Author: "Bailey-Wilson, J.E." - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Bailey-Wilson, J.E."' showing total 36 results

Start Over Author "Bailey-Wilson, J.E."

36 results on '"Bailey-Wilson, J.E."'

1. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Author: Musolf, A.M., Haarman, A.E.G., Luben, R.N., Ong, J.S., Patasova, K., Trapero, R.H., Marsh, J., Jain, I., Jain, R., Wang, P.Z., Lewis, D.D., Tedja, M.S., Iglesias, A.I., Li, Hengtong, Cowan, C.S., Biino, G., Klein, A.P., Duggal, P., Mackey, D.A., Hayward, C., Haller, T., Metspalu, A., Wedenoja, J., Pärssinen, O., Cheng, C.Y., Saw, S.M., Stambolian, D., Hysi, P.G., Khawaja, A.P., Vitart, V., Hammond, C.J., Duijn, C.M. van, Verhoeven, V.J.M., Klaver, C.C.W., Bailey-Wilson, J.E., Musolf, A.M., Haarman, A.E.G., Luben, R.N., Ong, J.S., Patasova, K., Trapero, R.H., Marsh, J., Jain, I., Jain, R., Wang, P.Z., Lewis, D.D., Tedja, M.S., Iglesias, A.I., Li, Hengtong, Cowan, C.S., Biino, G., Klein, A.P., Duggal, P., Mackey, D.A., Hayward, C., Haller, T., Metspalu, A., Wedenoja, J., Pärssinen, O., Cheng, C.Y., Saw, S.M., Stambolian, D., Hysi, P.G., Khawaja, A.P., Vitart, V., Hammond, C.J., Duijn, C.M. van, Verhoeven, V.J.M., Klaver, C.C.W., and Bailey-Wilson, J.E.
Abstract: Item does not contain fulltext, Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions.
Published: 2023

2. Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia

Author: Guggenheim, J.A., Clark, R., Cui, J., Terry, L., Patasova, K., Haarman, A.E.G., Musolf, A.M., Verhoeven, V.J.M., Klaver, C.C.W., Bailey-Wilson, J.E., Hysi, P.G., Williams, C., Guggenheim, J.A., Clark, R., Cui, J., Terry, L., Patasova, K., Haarman, A.E.G., Musolf, A.M., Verhoeven, V.J.M., Klaver, C.C.W., Bailey-Wilson, J.E., Hysi, P.G., and Williams, C.
Abstract: Item does not contain fulltext, Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potentially causative disease genes. We performed a genome-wide association study for refractive error in 51 624 unrelated adults, of European ancestry, aged 40-69 years from the UK and genotyped using WES. After testing 29 179 pLOF and 495 263 missense variants, 1 pLOF and 18 missense variants in 14 distinct genomic regions were taken forward for fine-mapping analysis. This yielded 19 putative causal variants of which 18 had a posterior inclusion probability >0.5. Of the 19 putative causal variants, 12 were novel discoveries. Specific variants were associated with a more myopic refractive error, while others were associated with a more hyperopic refractive error. Association with age of onset of spectacle wear (AOSW) was examined in an independent validation sample (38 100 early AOSW cases and 74 243 controls). Of 11 novel variants that could be tested, 8 (73%) showed evidence of association with AOSW status. This work identified COL4A4 and ATM as novel candidate genes associated with refractive error. In addition, novel putative causal variants were identified in the genes RASGEF1, ARMS2, BMP4, SIX6, GSDMA, GNGT2, ZNF652 and CRX. Despite these successes, the study also highlighted the limitations of community-based WES studies compared with high myopia case-control WES studies.
Published: 2022

3. Association analyses of rare variants identify two genes associated with refractive error

Author: Patasova, K., Haarman, A.E.G., Musolf, A.M., Mahroo, O.A., Rahi, J.S., Falchi, M., Verhoeven, V.J.M., Bailey-Wilson, J.E., Klaver, C.C.W., Duggal, P., Klein, A., Guggenheim, J.A., Hammond, C.J., Hysi, P.G., Patasova, K., Haarman, A.E.G., Musolf, A.M., Mahroo, O.A., Rahi, J.S., Falchi, M., Verhoeven, V.J.M., Bailey-Wilson, J.E., Klaver, C.C.W., Duggal, P., Klein, A., Guggenheim, J.A., Hammond, C.J., and Hysi, P.G.
Abstract: Contains fulltext : 282599.pdf (Publisher’s version ) (Open Access), PURPOSE: Genetic variants identified through population-based genome-wide studies are generally of high frequency, exerting their action in the central part of the refractive error spectrum. However, the power to identify associations with variants of lower minor allele frequency is greatly reduced, requiring considerable sample sizes. Here we aim to assess the impact of rare variants on genetic variation of refractive errors in a very large general population cohort. METHODS: Genetic association analyses of non-cyclopaedic autorefraction calculated as mean spherical equivalent (SPHE) used whole-exome sequence genotypic information from 50,893 unrelated participants in the UK Biobank of European ancestry. Gene-based analyses tested for association with SPHE using an optimised SNP-set kernel association test (SKAT-O) restricted to rare variants (minor allele frequency < 1%) within protein-coding regions of the genome. All models were adjusted for age, sex and common lead variants within the same locus reported by previous genome-wide association studies. Potentially causal markers driving association at significant loci were elucidated using sensitivity analyses by sequentially dropping the most associated variants from gene-based analyses. RESULTS: We found strong statistical evidence for association of SPHE with the SIX6 (p-value = 2.15 x 10-10, or Bonferroni-Corrected p = 4.41x10-06) and the CRX gene (p-value = 6.65 x 10-08, or Bonferroni-Corrected p = 0.001). The SIX6 gene codes for a transcription factor believed to be critical to the eye, retina and optic disc development and morphology, while CRX regulates photoreceptor specification and expression of over 700 genes in the retina. These novel associations suggest an important role of genes involved in eye morphogenesis in refractive error. CONCLUSION: The results of our study support previous research highlighting the importance of rare variants to the genetic risk of refractive error. We explain some of the o
Published: 2022

4. IMI 2021 Yearly Digest

Author: Jong, Monica, Jonas, J.B., Wolffsohn, J.S., Berntsen, D.A., Cho, P., Clarkson-Townsend, D., Flitcroft, D.I., Gifford, K.L., Haarman, A.E.G., Pardue, M.T., Richdale, K., Sankaridurg, P., Tedja, M.S., Wildsoet, C.F., Bailey-Wilson, J.E., Guggenheim, J.A., Hammond, C.J., Kaprio, J., MacGregor, S., Mackey, D.A., Musolf, A.M., Klaver, C.C.W., Verhoeven, V.J.M., Vitart, V., Smith, E.L., 3rd, Jong, Monica, Jonas, J.B., Wolffsohn, J.S., Berntsen, D.A., Cho, P., Clarkson-Townsend, D., Flitcroft, D.I., Gifford, K.L., Haarman, A.E.G., Pardue, M.T., Richdale, K., Sankaridurg, P., Tedja, M.S., Wildsoet, C.F., Bailey-Wilson, J.E., Guggenheim, J.A., Hammond, C.J., Kaprio, J., MacGregor, S., Mackey, D.A., Musolf, A.M., Klaver, C.C.W., Verhoeven, V.J.M., Vitart, V., and Smith, E.L., 3rd
Abstract: Item does not contain fulltext, PURPOSE: The International Myopia Institute (IMI) Yearly Digest highlights new research considered to be of importance since the publication of the first series of IMI white papers. METHODS: A literature search was conducted for articles on myopia between 2019 and mid-2020 to inform definitions and classifications, experimental models, genetics, interventions, clinical trials, and clinical management. Conference abstracts from key meetings in the same period were also considered. RESULTS: One thousand articles on myopia have been published between 2019 and mid-2020. Key advances include the use of the definition of premyopia in studies currently under way to test interventions in myopia, new definitions in the field of pathologic myopia, the role of new pharmacologic treatments in experimental models such as intraocular pressure-lowering latanoprost, a large meta-analysis of refractive error identifying 336 new genetic loci, new clinical interventions such as the defocus incorporated multisegment spectacles and combination therapy with low-dose atropine and orthokeratology (OK), normative standards in refractive error, the ethical dilemma of a placebo control group when myopia control treatments are established, reporting the physical metric of myopia reduction versus a percentage reduction, comparison of the risk of pediatric OK wear with risk of vision impairment in myopia, the justification of preventing myopic and axial length increase versus quality of life, and future vision loss. CONCLUSIONS: Large amounts of research in myopia have been published since the IMI 2019 white papers were released. The yearly digest serves to highlight the latest research and advances in myopia.
Published: 2021

5. Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer[Formula presented].

Author: Schleutker J., Giles G.G., MacInnis R.J., Southey M.C., Nguyen-Dumont T., Cancel-Tassin G., Cussenot O., Whittemore A.S., Sieh W., Ioannidis N.M., Hsieh C.-L., Stanford J.L., Fogarty Z., Cropp C.D., Carpten J., Hoegel J., Eeles R., Kote-Jarai Z., Ackerman M.J., Klein C.J., Mandal D., Cooney K.A., Bailey-Wilson J.E., Helfand B., Catalona W.J., Wiklund F., Riska S., Bahetti S., Larson M.C., Cannon Albright L., Teerlink C., Xu J., Isaacs W., Ostrander E.A., Thibodeau S.N., Schaid D.J., McDonnell S.K., FitzGerald L.M., DeRycke L., Schleutker J., Giles G.G., MacInnis R.J., Southey M.C., Nguyen-Dumont T., Cancel-Tassin G., Cussenot O., Whittemore A.S., Sieh W., Ioannidis N.M., Hsieh C.-L., Stanford J.L., Fogarty Z., Cropp C.D., Carpten J., Hoegel J., Eeles R., Kote-Jarai Z., Ackerman M.J., Klein C.J., Mandal D., Cooney K.A., Bailey-Wilson J.E., Helfand B., Catalona W.J., Wiklund F., Riska S., Bahetti S., Larson M.C., Cannon Albright L., Teerlink C., Xu J., Isaacs W., Ostrander E.A., Thibodeau S.N., Schaid D.J., McDonnell S.K., FitzGerald L.M., and DeRycke L.
Abstract: Background: Family history of prostate cancer (PCa) is a well-known risk factor, and both common and rare genetic variants are associated with the disease. Objective(s): To detect new genetic variants associated with PCa, capitalizing on the role of family history and more aggressive PCa. Design, setting, and participants: A two-stage design was used. In stage one, whole-exome sequencing was used to identify potential risk alleles among affected men with a strong family history of disease or with more aggressive disease (491 cases and 429 controls). Aggressive disease was based on a sum of scores for Gleason score, node status, metastasis, tumor stage, prostate-specific antigen at diagnosis, systemic recurrence, and time to PCa death. Genes identified in stage one were screened in stage two using a custom-capture design in an independent set of 2917 cases and 1899 controls. Outcome measurements and statistical analysis: Frequencies of genetic variants (singly or jointly in a gene) were compared between cases and controls. Results and limitations: Eleven genes previously reported to be associated with PCa were detected (ATM, BRCA2, HOXB13, FAM111A, EMSY, HNF1B, KLK3, MSMB, PCAT1, PRSS3, and TERT), as well as an additional 10 novel genes (PABPC1, QK1, FAM114A1, MUC6, MYCBP2, RAPGEF4, RNASEH2B, ULK4, XPO7, and THAP3). Of these 10 novel genes, all but PABPC1 and ULK4 were primarily associated with the risk of aggressive PCa. Conclusion(s): Our approach demonstrates the advantage of gene sequencing in the search for genetic variants associated with PCa and the benefits of sampling patients with a strong family history of disease or an aggressive form of disease. Patient Summary: Multiple genes are associated with prostate cancer (PCa) among men with a strong family history of this disease or among men with an aggressive form of PCa. Family history of prostate cancer (PCa) is a well-known risk factor. By capitalizing on affected men with a strong family history of disease
Published: 2021

6. The value of molecular haplotypes in a family-based linkage study

Author: Gillanders, E.M., Pearson, J.V., Sorant, A.J.M., Trent, J.M., O'Connell, J.R., and Bailey-Wilson, J.E.
Subjects: Haplotypes -- Research, Chromosome mapping -- Research, Heterogeneous catalysis -- Research, Pedigree analysis, Biological sciences
Abstract: A simulated study is used to compare the value of molecular haplotypes with the power of using standard genotyping in the context of a family-based linkage study. The results indicate that most of the increase in power is achieved by molecularly haplotyping a single individual in each family, thereby making it a valuable strategy for increasing the power of gene mapping studies of complex diseases.
Published: 2006

7. A major lung cancer susceptibility locus maps to chromosome 6q23-25

Author: Bailey-Wilson, J.E., Amos, C.I., Pinney, S.M., Petersen, G.M., de Andrade, M., Wiest, J.S., Fain, P., Schwartz, A.G., You, M., Franklin, W., Klein, C., Gazdar, A., Rothschild, H., Mandal, D., Coons, T., Slusser, J., Lee, J., Gaba, C., Kupert, E., Perez, A., Zhou, X., Zeng, D., Liu, Q., Zhang, Q., Seminara, D., Minna, J., and Anderson, M.W.
Subjects: Chromosomes -- Research, Lung cancer -- Research, Biological sciences
Published: 2004

8. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author: Fan, Q. (Qiao), Pozarickij, A. (Alfred), Tan, N.Y.Q. (Nicholas Y. Q.), Guo, X. (Xiaobo), Verhoeven, V.J.M. (Virginie), Vitart, V. (Veronique), Guggenheim, J. (Jean), Miyake, M. (Masahiro), Tideman, J.W.L. (Willem), Khawaja, A.P. (Anthony), Zhang, L. (Liang), MacGregor, S. (Stuart), Höhn, R. (René), Chen, P. (Peng), Biino, G. (Ginevra), Wedenoja, J. (Juho), Saffari, S.E. (Seyed Ehsan), Tedja, M. (Milly), Xie, J. (Jing), Lanca, C. (Carla), Wang, Y.X. (Ya Xing), Sahebjada, S. (Srujana), Mazur, J. (Johanna), Mirshahi, A. (Alireza), Martin, N.G. (Nicholas), Yazar, S. (Seyhan), Pennell, C.E. (Craig), Yap, M.K.H. (Maurice K. H.), Haarman, A.E.G. (Annechien E. G.), Enthoven, C.A. (Clair A.), Polling, J.R. (Jan Roelof), Bailey-Wilson, J.E. (Joan E.), Veluchamy, A.B. (Amutha Barathi), Burdon, K.P. (Kathryn P.), Campbell, H. (Harry), Chen, L.J. (Li Jia), Chew, E.Y. (Emily Y.), Craig, J.E. (Jamie), Cumberland, P.M. (Phillippa M.), DeAngelis, M.M. (Margaret), Delcourt, C. (Cécile), Ding, X. (Xiaohu), Evans, D.M. (David M.), Gharahkhani, P. (Puya), Iglesias, A.I. (Adriana I.), Haller, T. (Toomas), Han, X. (Xikun), Hoang, Q. (Quan), Igo Jr., R.P. (Robert), Iyengar, S.K. (Sudha), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Klein, B.E. (Barbara E.), Klein, R. (Ronald), Lass Jr., J.H. (Jonathan), Lee, K. (Kris), Lehtimäki, T. (Terho), Lewis, D.D. (Deyana D.), Li, Q. (Qing), Li, S.-M. (Shi-Ming), Lyytikäinen, L.-P. (Leo-Pekka), Meguro, A. (Akira), Metspalu, A. (Andres), Middlebrooks, C.D. (Candace D.), Mizuki, N. (Nobuhisa), Musolf, A.M. (Anthony M.), Nickels, S. (Stefan), Oexle, K. (Konrad), Pang, C.P. (Chi Pui), Paterson, A.D. (Andrew), Rahi, J.S. (Jugnoo S.), Raitakari, O. (Olli), Rudan, I. (Igor), Stambolian, D.E. (Dwight), Simpson, C.L. (Claire), Wang, N. (Ningli), Bin Wei, W. (Wen), Williams, K.M. (Katie M.), Wilson, J.F. (James), Wojciechowski, R. (Robert), Yamashiro, K. (Kenji), Yam, J.C.S. (Jason C. S.), Zhou, X. (Xiangtian), Aslam, T. (Tariq), Barman, S.A. (Sarah A.), Barrett, J.H. (Jenny H.), Bishop, P.N. (Paul), Blows, P. (Peter), Bunce, C. (Catey), Carare, R.O. (Roxana O.), Chakravarthy, U. (Usha), Chan, M. (Michelle), Chua, S.Y.L. (Sharon Y. L.), Crabb, D.P. (David), Cumberland, P.M. (Philippa M.), Day, A. (Alexander), Desai, P. (Parul), Dhillon, B. (Bal), Dick, A.D. (Andrew D.), Egan, C. (Cathy), Ennis, S. (Sarah), Fruttiger, M. (Marcus), Gallacher, J. (John), Garway-Heath, D.F. (David F.), Gibson, J. (Jane), Gore, D. (Dan), Hardcastle, A. (Alison), Harding, S.P. (Simon), Hogg, R. (Ruth), Keane, P.A. (Pearse A.), Khaw, S.P.T. (Sir Peng T.), Lascaratos, G. (Gerassimos), Lotery, A.J. (Andrew), Macgillivray, T. (Tom), Mackie, S. (Sarah), Martin, K. (Keith), McGaughey, M. (Michelle), McGuinness, B. (Bernadette), McKay, G.J. (Gareth), McKibbin, M. (Martin), Mitry, D. (Danny), Moore, T. (Tony), Morgan, J.E. (James E.), Muthy, Z.A. (Zaynah A.), O’Sullivan, E. (Eoin), Owen, C.G. (Chris G.), Patel, P. (Praveen), Paterson, E. (Euan), Peto, T. (Tünde), Petzold, A. (Axel), Rudnikca, A.R. (Alicja R.), Self, J. (Jay), Sivaprasad, S., Steel, D. (David), Stratton, I. (Irene), Strouthidis, N. (Nicholas), Sudlow, C. (Cathie), Thomas, D. (Dhanes), Trucco, E. (Emanuele), Tufail, A. (Adnan), Vernon, S.A. (Stephen A.), Viswanathan, A.C. (Ananth C.), Williams, K. (Katie), Woodside, J.V. (J.), Yates, M.M. (Max M.), Yip, J. (Jennifer), Zheng, Y. (Yalin), Hewit, A.W. (Alex), Jaddoe, V.W.V. (Vincent), Duijn, C.M. (Cornelia) van, Hayward, C. (Caroline), Polasek, O. (Ozren), Tai, E.S. (Shyong), Yoshikatsu, H. (Hosoda), Hysi, P.G. (Pirro G.), Young, T.L. (Terri L.), Tsujikawa, A. (Akitaka), Wang, J.J. (Jie Jing), Mitchell, P. (Paul), Pfeiffer, A.F.H. (Andreas), Pärssinen, O. (Olavi), Foster, P.J. (Paul), Fossarello, M. (Maurizio), Yip, S.P. (Shea Ping), Williams, C. (Cathy), Hammond, C.J. (Christopher), Jonas, J.B., He, M. (Mingguang), Mackey, D.A. (David), Wong, T.-Y. (Tien-Yin), Klaver, C.C.W. (Caroline), Saw, S-M. (Seang-Mei), Baird, P.N. (Paul), Cheng, C.-Y. (Ching-Yu), Fan, Q. (Qiao), Pozarickij, A. (Alfred), Tan, N.Y.Q. (Nicholas Y. Q.), Guo, X. (Xiaobo), Verhoeven, V.J.M. (Virginie), Vitart, V. (Veronique), Guggenheim, J. (Jean), Miyake, M. (Masahiro), Tideman, J.W.L. (Willem), Khawaja, A.P. (Anthony), Zhang, L. (Liang), MacGregor, S. (Stuart), Höhn, R. (René), Chen, P. (Peng), Biino, G. (Ginevra), Wedenoja, J. (Juho), Saffari, S.E. (Seyed Ehsan), Tedja, M. (Milly), Xie, J. (Jing), Lanca, C. (Carla), Wang, Y.X. (Ya Xing), Sahebjada, S. (Srujana), Mazur, J. (Johanna), Mirshahi, A. (Alireza), Martin, N.G. (Nicholas), Yazar, S. (Seyhan), Pennell, C.E. (Craig), Yap, M.K.H. (Maurice K. H.), Haarman, A.E.G. (Annechien E. G.), Enthoven, C.A. (Clair A.), Polling, J.R. (Jan Roelof), Bailey-Wilson, J.E. (Joan E.), Veluchamy, A.B. (Amutha Barathi), Burdon, K.P. (Kathryn P.), Campbell, H. (Harry), Chen, L.J. (Li Jia), Chew, E.Y. (Emily Y.), Craig, J.E. (Jamie), Cumberland, P.M. (Phillippa M.), DeAngelis, M.M. (Margaret), Delcourt, C. (Cécile), Ding, X. (Xiaohu), Evans, D.M. (David M.), Gharahkhani, P. (Puya), Iglesias, A.I. (Adriana I.), Haller, T. (Toomas), Han, X. (Xikun), Hoang, Q. (Quan), Igo Jr., R.P. (Robert), Iyengar, S.K. (Sudha), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Klein, B.E. (Barbara E.), Klein, R. (Ronald), Lass Jr., J.H. (Jonathan), Lee, K. (Kris), Lehtimäki, T. (Terho), Lewis, D.D. (Deyana D.), Li, Q. (Qing), Li, S.-M. (Shi-Ming), Lyytikäinen, L.-P. (Leo-Pekka), Meguro, A. (Akira), Metspalu, A. (Andres), Middlebrooks, C.D. (Candace D.), Mizuki, N. (Nobuhisa), Musolf, A.M. (Anthony M.), Nickels, S. (Stefan), Oexle, K. (Konrad), Pang, C.P. (Chi Pui), Paterson, A.D. (Andrew), Rahi, J.S. (Jugnoo S.), Raitakari, O. (Olli), Rudan, I. (Igor), Stambolian, D.E. (Dwight), Simpson, C.L. (Claire), Wang, N. (Ningli), Bin Wei, W. (Wen), Williams, K.M. (Katie M.), Wilson, J.F. (James), Wojciechowski, R. (Robert), Yamashiro, K. (Kenji), Yam, J.C.S. (Jason C. S.), Zhou, X. (Xiangtian), Aslam, T. (Tariq), Barman, S.A. (Sarah A.), Barrett, J.H. (Jenny H.), Bishop, P.N. (Paul), Blows, P. (Peter), Bunce, C. (Catey), Carare, R.O. (Roxana O.), Chakravarthy, U. (Usha), Chan, M. (Michelle), Chua, S.Y.L. (Sharon Y. L.), Crabb, D.P. (David), Cumberland, P.M. (Philippa M.), Day, A. (Alexander), Desai, P. (Parul), Dhillon, B. (Bal), Dick, A.D. (Andrew D.), Egan, C. (Cathy), Ennis, S. (Sarah), Fruttiger, M. (Marcus), Gallacher, J. (John), Garway-Heath, D.F. (David F.), Gibson, J. (Jane), Gore, D. (Dan), Hardcastle, A. (Alison), Harding, S.P. (Simon), Hogg, R. (Ruth), Keane, P.A. (Pearse A.), Khaw, S.P.T. (Sir Peng T.), Lascaratos, G. (Gerassimos), Lotery, A.J. (Andrew), Macgillivray, T. (Tom), Mackie, S. (Sarah), Martin, K. (Keith), McGaughey, M. (Michelle), McGuinness, B. (Bernadette), McKay, G.J. (Gareth), McKibbin, M. (Martin), Mitry, D. (Danny), Moore, T. (Tony), Morgan, J.E. (James E.), Muthy, Z.A. (Zaynah A.), O’Sullivan, E. (Eoin), Owen, C.G. (Chris G.), Patel, P. (Praveen), Paterson, E. (Euan), Peto, T. (Tünde), Petzold, A. (Axel), Rudnikca, A.R. (Alicja R.), Self, J. (Jay), Sivaprasad, S., Steel, D. (David), Stratton, I. (Irene), Strouthidis, N. (Nicholas), Sudlow, C. (Cathie), Thomas, D. (Dhanes), Trucco, E. (Emanuele), Tufail, A. (Adnan), Vernon, S.A. (Stephen A.), Viswanathan, A.C. (Ananth C.), Williams, K. (Katie), Woodside, J.V. (J.), Yates, M.M. (Max M.), Yip, J. (Jennifer), Zheng, Y. (Yalin), Hewit, A.W. (Alex), Jaddoe, V.W.V. (Vincent), Duijn, C.M. (Cornelia) van, Hayward, C. (Caroline), Polasek, O. (Ozren), Tai, E.S. (Shyong), Yoshikatsu, H. (Hosoda), Hysi, P.G. (Pirro G.), Young, T.L. (Terri L.), Tsujikawa, A. (Akitaka), Wang, J.J. (Jie Jing), Mitchell, P. (Paul), Pfeiffer, A.F.H. (Andreas), Pärssinen, O. (Olavi), Foster, P.J. (Paul), Fossarello, M. (Maurizio), Yip, S.P. (Shea Ping), Williams, C. (Cathy), Hammond, C.J. (Christopher), Jonas, J.B., He, M. (Mingguang), Mackey, D.A. (David), Wong, T.-Y. (Tien-Yin), Klaver, C.C.W. (Caroline), Saw, S-M. (Seang-Mei), Baird, P.N. (Paul), and Cheng, C.-Y. (Ching-Yu)
Abstract: Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.
Published: 2020
Full Text: View/download PDF

9. Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations

Author: Marroni, F., Aretini, P., D'Andrea, E., Caligo, M.A., Cortesi, L., Viel, A., Ricevuto, E., Montagna, M., Cipollini, G., Ferrari, S., Santarosa, M., Bisegna, R., Bailey-Wilson, J.E., Bevliacqua, G., Parmigiani, G., and Presciuttini, S.
Subjects: Gene mutations -- Research, Breast cancer -- Causes of, Breast cancer -- Research, Ovarian cancer -- Research, Ovarian cancer -- Causes of, Health
Published: 2004

10. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Author: Tedja, M.S., Wojciechowski, R., Hysi, P.G., Eriksson, N., Furlotte, N.A., Verhoeven, V.J., Iglesias, A.I., Meester-Smoor, M.A., Tompson, S.W., Fan, Q., Khawaja, A.P., Cheng, C.Y., Hohn, R., Yamashiro, K., Wenocur, A., Grazal, C., Haller, T., Metspalu, A., Wedenoja, J., Jonas, J.B., Wang, Y.X., Xie, J, Mitchell, P., Foster, P.J., Klein, B.E., Klein, R., Paterson, A.D., Hosseini, S.M., Shah, R.L., Williams, C., Teo, Y.Y., Tham, Y.C., Gupta, P., Zhao, W., Shi, Yuan, Saw, W.Y., Tai, E.S., Sim, X.L., Huffman, J.E., Polasek, O., Hayward, C., Bencic, G., Rudan, I., Wilson, J.F., Joshi, P.K., Tsujikawa, A., Matsuda, F., Whisenhunt, K.N., Zeller, T., Spek, P.J. van der, Haak, R., Meijers-Heijboer, H., Leeuwen, E.M. van, Iyengar, S.K., Lass, J.H., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Vingerling, J.R., Lehtimaki, T., Raitakari, O.T., Biino, G., Concas, M.P., Schwantes-An, T.H., Igo, R.P., Jr., Cuellar-Partida, G., Martin, N.G., Craig, J.E., Gharahkhani, P., Williams, K.M., Nag, A., Rahi, J.S., Cumberland, P.M., Delcourt, C, Bellenguez, C., Ried, J.S., Bergen, A.A., Meitinger, T., Gieger, C., Wong, T.Y., Hewitt, A.W., Mackey, D.A., Simpson, C.L., Pfeiffer, N., Parssinen, O., Baird, P.N., Vitart, V., Amin, N., Duijn, C.M. van, Bailey-Wilson, J.E., Young, T.L., Saw, S.M., Stambolian, D., MacGregor, S., Guggenheim, J.A., Tung, J.Y., Hammond, C.J., Klaver, C.C.W., Tedja, M.S., Wojciechowski, R., Hysi, P.G., Eriksson, N., Furlotte, N.A., Verhoeven, V.J., Iglesias, A.I., Meester-Smoor, M.A., Tompson, S.W., Fan, Q., Khawaja, A.P., Cheng, C.Y., Hohn, R., Yamashiro, K., Wenocur, A., Grazal, C., Haller, T., Metspalu, A., Wedenoja, J., Jonas, J.B., Wang, Y.X., Xie, J, Mitchell, P., Foster, P.J., Klein, B.E., Klein, R., Paterson, A.D., Hosseini, S.M., Shah, R.L., Williams, C., Teo, Y.Y., Tham, Y.C., Gupta, P., Zhao, W., Shi, Yuan, Saw, W.Y., Tai, E.S., Sim, X.L., Huffman, J.E., Polasek, O., Hayward, C., Bencic, G., Rudan, I., Wilson, J.F., Joshi, P.K., Tsujikawa, A., Matsuda, F., Whisenhunt, K.N., Zeller, T., Spek, P.J. van der, Haak, R., Meijers-Heijboer, H., Leeuwen, E.M. van, Iyengar, S.K., Lass, J.H., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Vingerling, J.R., Lehtimaki, T., Raitakari, O.T., Biino, G., Concas, M.P., Schwantes-An, T.H., Igo, R.P., Jr., Cuellar-Partida, G., Martin, N.G., Craig, J.E., Gharahkhani, P., Williams, K.M., Nag, A., Rahi, J.S., Cumberland, P.M., Delcourt, C, Bellenguez, C., Ried, J.S., Bergen, A.A., Meitinger, T., Gieger, C., Wong, T.Y., Hewitt, A.W., Mackey, D.A., Simpson, C.L., Pfeiffer, N., Parssinen, O., Baird, P.N., Vitart, V., Amin, N., Duijn, C.M. van, Bailey-Wilson, J.E., Young, T.L., Saw, S.M., Stambolian, D., MacGregor, S., Guggenheim, J.A., Tung, J.Y., Hammond, C.J., and Klaver, C.C.W.
Abstract: Item does not contain fulltext, Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.
Published: 2018

11. A genome-wide association study of corneal astigmatism: The CREAM Consortium

Author: Shah, R.L., Li, Q., Zhao, W., Tedja, M.S., Tideman, J.W., Khawaja, A.P., Fan, Q., Yazar, S., Williams, K.M., Verhoeven, V.J., Xie, J., Wang, Y.X., Hess, M., Nickels, S., Lackner, K.J., Parssinen, O., Wedenoja, J., Biino, G., Concas, M.P., Uitterlinden, A., Rivadeneira, F., Jaddoe, V.W., Hysi, P.G., Sim, X., Tan, N., Tham, Y.C., Sensaki, S., Hofman, A., Vingerling, J.R., Jonas, J.B., Mitchell, P., Hammond, C.J., Hohn, R., Baird, P.N., Wong, T.Y., Cheng, C.Y., Teo, Y.Y., Mackey, D.A., Williams, C., Saw, S.M., Klaver, C.C.W., Guggenheim, J.A., Bailey-Wilson, J.E., Shah, R.L., Li, Q., Zhao, W., Tedja, M.S., Tideman, J.W., Khawaja, A.P., Fan, Q., Yazar, S., Williams, K.M., Verhoeven, V.J., Xie, J., Wang, Y.X., Hess, M., Nickels, S., Lackner, K.J., Parssinen, O., Wedenoja, J., Biino, G., Concas, M.P., Uitterlinden, A., Rivadeneira, F., Jaddoe, V.W., Hysi, P.G., Sim, X., Tan, N., Tham, Y.C., Sensaki, S., Hofman, A., Vingerling, J.R., Jonas, J.B., Mitchell, P., Hammond, C.J., Hohn, R., Baird, P.N., Wong, T.Y., Cheng, C.Y., Teo, Y.Y., Mackey, D.A., Williams, C., Saw, S.M., Klaver, C.C.W., Guggenheim, J.A., and Bailey-Wilson, J.E.
Abstract: Contains fulltext : 191261.pdf (publisher's version ) (Open Access), Purpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55x10(-9). No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3). Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.
Published: 2018

12. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Author: Tedja, Milly S, Wojciechowski, Robert, Hysi, Pirro G, Eriksson, Nicholas, Furlotte, Nicholas A, Verhoeven, Virginie J M, Iglesias, Adriana I, Meester-Smoor, Magda A, Tompson, Stuart W, Fan, Qiao, Khawaja, Anthony P, Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B, Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J, Klein, Barbara E K, Klein, Ronald, Paterson, Andrew D, Hosseini, S Mohsen, Shah, Rupal L, Williams, Cathy, Teo, Yik-Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E, Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F, CREAM Consortium, Joshi, Peter K, Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N, Zeller, Tanja, Van der Spek, P.J., Haak, R., Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M, Iyengar, Sudha K, Lass, J.H., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Vingerling, J.R., Lehtimaki, T., Raitakari, O.T., Biino, G., Concas, M.P., Schwantes-An, T.H., Igo, R.P., Cuellar-Partida, G., Martin, N.G., Craig, J.E., Gharahkhani, P., Williams, K.M., Naq, A., Rahi, J.S., Cumberland, P.M., Delcourt, C., Bellenquez, C., Ried, J.S., Bergen, Arthur A, Meitinger, T., Gieger, C., Wong, T.Y., Hewitt, A.W., Mackey, D.A., Simpson, C.L., Pfeiffer, N., Parssinen, O., Baird, P.N., Vitart, V., Amin, N., Van Duijn, C.M., Bailey-Wilson, J.E., Young, T.L., Saw, S.M., Stambolian, D., MacGregor, S., Guggenheim, J.A., Tung, J.Y., Hammond, C.J., Klaver, C.C.W., Tedja, Milly S, Wojciechowski, Robert, Hysi, Pirro G, Eriksson, Nicholas, Furlotte, Nicholas A, Verhoeven, Virginie J M, Iglesias, Adriana I, Meester-Smoor, Magda A, Tompson, Stuart W, Fan, Qiao, Khawaja, Anthony P, Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B, Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J, Klein, Barbara E K, Klein, Ronald, Paterson, Andrew D, Hosseini, S Mohsen, Shah, Rupal L, Williams, Cathy, Teo, Yik-Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E, Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F, CREAM Consortium, Joshi, Peter K, Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N, Zeller, Tanja, Van der Spek, P.J., Haak, R., Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M, Iyengar, Sudha K, Lass, J.H., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Vingerling, J.R., Lehtimaki, T., Raitakari, O.T., Biino, G., Concas, M.P., Schwantes-An, T.H., Igo, R.P., Cuellar-Partida, G., Martin, N.G., Craig, J.E., Gharahkhani, P., Williams, K.M., Naq, A., Rahi, J.S., Cumberland, P.M., Delcourt, C., Bellenquez, C., Ried, J.S., Bergen, Arthur A, Meitinger, T., Gieger, C., Wong, T.Y., Hewitt, A.W., Mackey, D.A., Simpson, C.L., Pfeiffer, N., Parssinen, O., Baird, P.N., Vitart, V., Amin, N., Van Duijn, C.M., Bailey-Wilson, J.E., Young, T.L., Saw, S.M., Stambolian, D., MacGregor, S., Guggenheim, J.A., Tung, J.Y., Hammond, C.J., and Klaver, C.C.W.
Abstract: Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.
Published: 2018

13. Assessing the genetic predisposition of education on myopia: A mendelian randomization study

Author: Cuellar-Partida, G., Lu, Y., Kho, P.F., Hewitt, A.W., Wichmann, H.-E., Yazar, S., Stambolian, D., Bailey-Wilson, J.E., Wojciechowski, R., Wang, J.J., Mitchell, P., Mackey, D.A., and MacGregor, S.
Subjects: Education, Instrumental Variable, Mendelian Randomization, Myopia, Polygenic Risk Scores, Refractive Error, genetic structures
Abstract: Myopia is the largest cause of uncorrected visual impairments globally and its recent dramatic increase in the population has made it a major public health problem. In observational studies, educational attainment has been consistently reported to be correlated to myopia. Nonetheless, correlation does not imply causation. Observational studies do not tell us if education causes myopia or if instead there are confounding factors underlying the association. In this work, we use a two-step least squares instrumental-variable (IV) approach to estimate the causal effect of education on refractive error, specifically myopia. We used the results from the educational attainment GWAS from the Social Science Genetic Association Consortium to define a polygenic risk score (PGRS) in three cohorts of late middle age and elderly Caucasian individuals (N = 5,649). In a meta-analysis of the three cohorts, using the PGRS as an IV, we estimated that each z-score increase in education (approximately 2 years of education) results in a reduction of 0.92 ± 0.29 diopters (P = 1.04 × 10-3). Our estimate of the effect of education on myopia was higher (P = 0.01) than the observed estimate (0.25 ± 0.03 diopters reduction per education z-score [∼2 years] increase). This suggests that observational studies may actually underestimate the true effect. Our Mendelian Randomization (MR) analysis provides new evidence for a causal role of educational attainment on refractive error.
Published: 2016

14. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Author: Fan, Q., Guo, X., Tideman, J.W.L., Williams, K.M., Yazar, S., Hosseini, S.M., Howe, L.D., Pourcain, B.S., Evans, D.M., Timpson, N.J., McMahon, G., Hysi, P.G., Krapohl, E., Wang, Y.X., Jonas, J.B., Baird, P.N., Wang, J.J., Cheng, C.Y., Teo, Y.Y., Wong, T.Y., Ding, X., Wojciechowski, R., Young, T.L., Pärssinen, O., Oexle, K., Pfeiffer, N., Bailey-Wilson, J.E., Paterson, A.D., Klaver, C.C.W., Plomin, R., Hammond, C.J., He, M., Saw, S.M., Guggenheim, J.A., Meguro, A., Wright, A.F., Hewitt, A.W., Young, A.L., Veluchamy, A.B., Metspalu, A., The CREAM Consortium (Döring, A., Gieger, C., Ried, J.S.), Khawaja, A.P., Klein, B.E., St Pourcain, B., Fleck, B., Hayward, C., Williams, C., Delcourt, C., Pang, C.P., Khor, C.C., Simpson, C.L., van Duijn, C.M., Mackey, D.A., Stambolian, D., Chew, E., Tai, E.S., Mihailov, E., Smith, G.D., Biino, G., Campbell, H., Rudan, I., Seppälä, I., Kaprio, J., Wilson, J.F., and Craig, J.E.
Abstract: Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).
Published: 2016

15. Model-dependent linkage analysis and Type I error rate under random ascertainment

Author: Mandal, D.M., Sorant, A.J.M., Wilson, A.F., and Bailey-Wilson, J.E.
Subjects: Genetic research -- Analysis, Human genetics -- Research, Biological sciences
Published: 2000

16. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Author: Fan, Q. (Qiao), Guo, X. (Xiaobo), Tideman, J.W.L. (Willem), Williams, K.M. (Katie M.), Yazar, S. (Seyhan), Hosseini, S.M. (S. Mohsen), Howe, L.D. (Laura), Pourcain, B.S. (Beate), Evans, D.M. (David), Timpson, N.J. (Nicholas), Mcmahon, G. (George), Hysi, P.G. (Pirro), Krapohl, E. (Eva), Wang, Y.X. (Ya Xing), Jonas, J.B., Baird, P.N. (Paul), Wang, J.J. (Jie Jin), Cheng, C.-Y. (Ching-Yu), Teo, Y.Y. (Yik Ying), Wong, T.-Y. (Tien-Yin), Ding, X. (Xiaohu), Wojciechowski, R. (Robert), Young, T.L. (Terri), Pärssinen, O. (Olavi), Oexle, K. (Konrad), Pfeiffer, A.F.H. (Andreas), Bailey-Wilson, J.E. (Joan E.), Paterson, A.D. (Andrew), Klaver, C.C.W. (Caroline C. W.), Plomin, R. (Robert), Hammond, C.J. (Christopher J.), He, M. (Mingguang), Saw, S-M. (Seang-Mei), Guggenheim, J. (Jean), Meguro, A. (Akira), Wright, A.F. (Alan), Hewit, A.W. (Alex), Young, A.L. (Alvin L.), Veluchamy, A.B. (Amutha Barathi), Metspalu, A. (Andres), Döring, A. (Angela), Khawaja, A.P. (Anthony P.), Klein, B.E.K. (Barbara), St Pourcain, B. (Beate), Fleck, B. (Brian), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Williams, C. (Cathy), Delcourt, C. (Cécile), Pang, C.P. (Chi Pui), Khor, C.C., Gieger, C. (Christian), Simpson, C.L. (Claire), Duijn, C.M. (Cornelia) van, Mackey, D.A. (David), Stambolian, D. (Dwight), Chew, E.Y. (Emily), Tai, E.-S. (E.-Shyong), Mihailov, E. (Evelin), Smith, A.V. (Davey), Biino, G. (Ginevra), Campbell, H. (Harry), Rudan, I. (Igor), Seppälä, I. (Ilkka), Kaprio, J. (Jaakko), Wilson, J.F. (James F.), Craig, J.E. (Jamie E.), Ried, J.S. (Janina), Korobelnik, J.-F. (Jean-François), Fondran, J.R. (Jeremy R.), Liao, J. (Jie), Zhao, J.H. (Jing Hua), Xie, J. (Jing), Kemp, J.P. (John), Lass Jr., J.H. (Jonathan), Rahi, J.S. (Jugnoo), Wedenoja, J. (Juho), Makela, K.M. (Kari Matti), Burdon, K.P. (Kathryn P.), Khaw, K.T., Yamashiro, K. (Kenji), Chen, L.J. (Li Jia), Xu, L. (Liang), Farrer, L.A. (Lindsay), Ikram, M.K. (M. Kamran), DeAngelis, M.M. (Margaret), Morrison, M.A. (Margaux A.), Schache, M. (Maria), Pirastu, M. (Mario), Miyake, M. (Masahiro), Yap, M.K.H. (Maurice K. H.), Fossarello, M. (Maurizio), Kähönen, M. (Mika), Tedja, M. (Milly), Yoshimura, N., Martin, N.G. (Nicholas), Wareham, N.J. (Nick), Mizuki, N. (Nobuhisa), Raitakari, O. (Olli), Polasek, O. (Ozren), Tam, P.O. (Pancy O.), Foster, P.J. (Paul), Mitchell, P. (Paul), Chen, P. (Peng), Cumberland, P. (Phillippa), Gharahkhani, P. (Puya), Höhn, R. (René), Fogarty, R.D. (Rhys D.), Luben, R.N. (Robert), Igo Jr., R.P. (Robert), Klein, R. (Ronald), Janmahasatian, S. (Sarayut), Yip, S.P. (Shea Ping), Feng, S. (Sheng), Vaccargiu, S. (Simona), Panda-Jonas, S. (Songhomitra), MacGregor, S. (Stuart), Iyengar, S.K. (Sudha), Rantanen, T. (Taina), Lehtimäki, T. (Terho), Meitinger, T. (Thomas), Aung, T. (Tin), Haller, T. (Toomas), Vitart, V. (Veronique), Nangia, M. (Monika), Verhoeven, V.J.M. (Virginie), Jhanji, V. (Vishal), Zhao, W. (Wanting), Chen, W. (Wei), Zhou, X. (Xiangtian), Lu, Y. (Yi), Vatavuk, Z. (Zoran), Fan, Q. (Qiao), Guo, X. (Xiaobo), Tideman, J.W.L. (Willem), Williams, K.M. (Katie M.), Yazar, S. (Seyhan), Hosseini, S.M. (S. Mohsen), Howe, L.D. (Laura), Pourcain, B.S. (Beate), Evans, D.M. (David), Timpson, N.J. (Nicholas), Mcmahon, G. (George), Hysi, P.G. (Pirro), Krapohl, E. (Eva), Wang, Y.X. (Ya Xing), Jonas, J.B., Baird, P.N. (Paul), Wang, J.J. (Jie Jin), Cheng, C.-Y. (Ching-Yu), Teo, Y.Y. (Yik Ying), Wong, T.-Y. (Tien-Yin), Ding, X. (Xiaohu), Wojciechowski, R. (Robert), Young, T.L. (Terri), Pärssinen, O. (Olavi), Oexle, K. (Konrad), Pfeiffer, A.F.H. (Andreas), Bailey-Wilson, J.E. (Joan E.), Paterson, A.D. (Andrew), Klaver, C.C.W. (Caroline C. W.), Plomin, R. (Robert), Hammond, C.J. (Christopher J.), He, M. (Mingguang), Saw, S-M. (Seang-Mei), Guggenheim, J. (Jean), Meguro, A. (Akira), Wright, A.F. (Alan), Hewit, A.W. (Alex), Young, A.L. (Alvin L.), Veluchamy, A.B. (Amutha Barathi), Metspalu, A. (Andres), Döring, A. (Angela), Khawaja, A.P. (Anthony P.), Klein, B.E.K. (Barbara), St Pourcain, B. (Beate), Fleck, B. (Brian), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Williams, C. (Cathy), Delcourt, C. (Cécile), Pang, C.P. (Chi Pui), Khor, C.C., Gieger, C. (Christian), Simpson, C.L. (Claire), Duijn, C.M. (Cornelia) van, Mackey, D.A. (David), Stambolian, D. (Dwight), Chew, E.Y. (Emily), Tai, E.-S. (E.-Shyong), Mihailov, E. (Evelin), Smith, A.V. (Davey), Biino, G. (Ginevra), Campbell, H. (Harry), Rudan, I. (Igor), Seppälä, I. (Ilkka), Kaprio, J. (Jaakko), Wilson, J.F. (James F.), Craig, J.E. (Jamie E.), Ried, J.S. (Janina), Korobelnik, J.-F. (Jean-François), Fondran, J.R. (Jeremy R.), Liao, J. (Jie), Zhao, J.H. (Jing Hua), Xie, J. (Jing), Kemp, J.P. (John), Lass Jr., J.H. (Jonathan), Rahi, J.S. (Jugnoo), Wedenoja, J. (Juho), Makela, K.M. (Kari Matti), Burdon, K.P. (Kathryn P.), Khaw, K.T., Yamashiro, K. (Kenji), Chen, L.J. (Li Jia), Xu, L. (Liang), Farrer, L.A. (Lindsay), Ikram, M.K. (M. Kamran), DeAngelis, M.M. (Margaret), Morrison, M.A. (Margaux A.), Schache, M. (Maria), Pirastu, M. (Mario), Miyake, M. (Masahiro), Yap, M.K.H. (Maurice K. H.), Fossarello, M. (Maurizio), Kähönen, M. (Mika), Tedja, M. (Milly), Yoshimura, N., Martin, N.G. (Nicholas), Wareham, N.J. (Nick), Mizuki, N. (Nobuhisa), Raitakari, O. (Olli), Polasek, O. (Ozren), Tam, P.O. (Pancy O.), Foster, P.J. (Paul), Mitchell, P. (Paul), Chen, P. (Peng), Cumberland, P. (Phillippa), Gharahkhani, P. (Puya), Höhn, R. (René), Fogarty, R.D. (Rhys D.), Luben, R.N. (Robert), Igo Jr., R.P. (Robert), Klein, R. (Ronald), Janmahasatian, S. (Sarayut), Yip, S.P. (Shea Ping), Feng, S. (Sheng), Vaccargiu, S. (Simona), Panda-Jonas, S. (Songhomitra), MacGregor, S. (Stuart), Iyengar, S.K. (Sudha), Rantanen, T. (Taina), Lehtimäki, T. (Terho), Meitinger, T. (Thomas), Aung, T. (Tin), Haller, T. (Toomas), Vitart, V. (Veronique), Nangia, M. (Monika), Verhoeven, V.J.M. (Virginie), Jhanji, V. (Vishal), Zhao, W. (Wanting), Chen, W. (Wei), Zhou, X. (Xiangtian), Lu, Y. (Yi), and Vatavuk, Z. (Zoran)
Abstract: Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).
Published: 2016
Full Text: View/download PDF

17. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Author: Li, Q. (Qing), Wojciechowski, R. (Robert), Simpson, C.L. (Claire), Hysi, P.G. (Pirro), Verhoeven, V.J.M. (Virginie), Ikram, M.K. (Kamran), Höhn, R. (René), Vitart, V. (Veronique), Hewit, A.W. (Alex), Oexle, K. (Konrad), Makela, K.M. (Kari Matti), MacGregor, S. (Stuart), Pirastu, M. (Mario), Fan, Q. (Qiao), Cheng, C-Y. (Ching-Yu), St Pourcain, B. (Beate), Mcmahon, G. (George), Kemp, J.P. (John), Northstone, K. (Kate), Rahi, J.S. (Jugnoo), Cumberland, P. (Phillippa), Martin, N.G. (Nicholas), Sanfilippo, P.G. (Paul G.), Lu, Y. (Yi), Wang, Y. (Ying), Hayward, C. (Caroline), Polasek, O. (Ozren), Campbell, H. (Harry), Bencic, G. (Goran), Wright, A. (Alan), Wedenoja, J. (Juho), Zeller, T. (Tanja), Schillert, A. (Arne), Mirshahi, A. (Alireza), Lackner, K.J. (Karl), Yip, S.P. (Shea Ping), Yap, M.K.H. (Maurice K. H.), Ried, J.S. (Janina), Gieger, C. (Christian), Murgia, D. (Daniela), Wilson, J.F. (James F), Fleck, B.W. (Brian W.), Yazar, S. (Seyhan), Vingerling, J.R. (Hans), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Amin, N. (Najaf), Karssen, L.C. (Lennart), Oostra, B.A. (Ben), Zhou, X. (Xin), Teo, Y.Y. (Yik Ying), Tai, E.S. (Shyong), Vithana, E.N. (Eranga), Barathi, V.A. (Veluchamy), Zheng, Y. (Yingfeng), Siantar, R. (Rosalynn), Neelam, K. (Kumari), Shin, Y. (Youchan), Lam, J. (Janice), Yonova-Doing, E. (Ekaterina), Venturini, C. (Cristina), Hosseini, S.M. (S Mohsen), Wong, H.-S. (Hoi-Suen), Lehtimäki, T. (Terho), Kähönen, M. (Mika), Raitakari, O. (Olli), Timpson, N.J. (Nicholas), Evans, D.M. (David M.), Khor, C.C., Aung, T. (Tin), Young, T.L. (Terri), Mitchell, P. (Paul), Klein, B.E.K. (Barbara), Duijn, C.M. (Cornelia) van, Meitinger, T. (Thomas), Jonas, J.B. (Jost B.), Baird, P.N. (Paul), Mackey, D.A. (David), Wong, T.Y. (Tien Yin), Saw, S-M. (Seang-Mei), Pärssinen, O. (Olavi), Stambolian, D.E. (Dwight), Hammond, C.J. (Christopher), Klaver, C.C.W. (Caroline), Williams, C. (Cathy), Paterson, A.D. (Andrew), Bailey-Wilson, J.E. (Joan E.), Guggenheim, J. (Jean), Li, Q. (Qing), Wojciechowski, R. (Robert), Simpson, C.L. (Claire), Hysi, P.G. (Pirro), Verhoeven, V.J.M. (Virginie), Ikram, M.K. (Kamran), Höhn, R. (René), Vitart, V. (Veronique), Hewit, A.W. (Alex), Oexle, K. (Konrad), Makela, K.M. (Kari Matti), MacGregor, S. (Stuart), Pirastu, M. (Mario), Fan, Q. (Qiao), Cheng, C-Y. (Ching-Yu), St Pourcain, B. (Beate), Mcmahon, G. (George), Kemp, J.P. (John), Northstone, K. (Kate), Rahi, J.S. (Jugnoo), Cumberland, P. (Phillippa), Martin, N.G. (Nicholas), Sanfilippo, P.G. (Paul G.), Lu, Y. (Yi), Wang, Y. (Ying), Hayward, C. (Caroline), Polasek, O. (Ozren), Campbell, H. (Harry), Bencic, G. (Goran), Wright, A. (Alan), Wedenoja, J. (Juho), Zeller, T. (Tanja), Schillert, A. (Arne), Mirshahi, A. (Alireza), Lackner, K.J. (Karl), Yip, S.P. (Shea Ping), Yap, M.K.H. (Maurice K. H.), Ried, J.S. (Janina), Gieger, C. (Christian), Murgia, D. (Daniela), Wilson, J.F. (James F), Fleck, B.W. (Brian W.), Yazar, S. (Seyhan), Vingerling, J.R. (Hans), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Amin, N. (Najaf), Karssen, L.C. (Lennart), Oostra, B.A. (Ben), Zhou, X. (Xin), Teo, Y.Y. (Yik Ying), Tai, E.S. (Shyong), Vithana, E.N. (Eranga), Barathi, V.A. (Veluchamy), Zheng, Y. (Yingfeng), Siantar, R. (Rosalynn), Neelam, K. (Kumari), Shin, Y. (Youchan), Lam, J. (Janice), Yonova-Doing, E. (Ekaterina), Venturini, C. (Cristina), Hosseini, S.M. (S Mohsen), Wong, H.-S. (Hoi-Suen), Lehtimäki, T. (Terho), Kähönen, M. (Mika), Raitakari, O. (Olli), Timpson, N.J. (Nicholas), Evans, D.M. (David M.), Khor, C.C., Aung, T. (Tin), Young, T.L. (Terri), Mitchell, P. (Paul), Klein, B.E.K. (Barbara), Duijn, C.M. (Cornelia) van, Meitinger, T. (Thomas), Jonas, J.B. (Jost B.), Baird, P.N. (Paul), Mackey, D.A. (David), Wong, T.Y. (Tien Yin), Saw, S-M. (Seang-Mei), Pärssinen, O. (Olavi), Stambolian, D.E. (Dwight), Hammond, C.J. (Christopher), Klaver, C.C.W. (Caroline), Williams, C. (Cathy), Paterson, A.D. (Andrew), Bailey-Wilson, J.E. (Joan E.), and Guggenheim, J. (Jean)
Abstract: To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E−8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E−07), TOX (rs7823467, P = 3.47E−07) and LINC00340 (rs12212674, P = 1.49E−06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical
Published: 2015
Full Text: View/download PDF

18. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Author: Hysi, P.G. (Pirro), Cheng, C-Y. (Ching-Yu), Springelkamp, H. (Henriët), MacGregor, S. (Stuart), Bailey, J.N.C. (Jessica N. Cooke), Wojciechowski, R. (Robert), Vitart, V. (Veronique), Nag, A. (Abhishek), Hewit, A.W. (Alex), Höhn, R. (René), Venturini, C. (Cristina), Mirshahi, A. (Alireza), Ramdas, W.D. (Wishal), Thorleifsson, G. (Gudmar), Vithana, E.N. (Eranga), Khor, C.C., Stefansson, A.B. (Arni B.), Liao, J. (Jie), Haines, J.L. (Jonathan), Amin, N. (Najaf), Wang, Y. (Ying), Wild, P.S. (Philipp S.), Ozel, A.B. (Ayse), Li, J., Fleck, B.W. (Brian W.), Zeller, T. (Tanja), Staffieri, S.E. (Sandra E.), Teo, Y.Y. (Yik Ying), Cuellar-Partida, G. (Gabriel), Luo, X. (Xiaoyan), Allingham, R.R. (R Rand), Richards, J.E. (Julia), Senft, A. (Andrea), Karssen, L.C. (Lennart), Zheng, Y. (Yingfeng), Bellenguez, C. (Céline), Xu, L. (Liang), Iglesias González, A.I. (Adriana), Wilson, J.F. (James F), Kang, J.H. (Jae), Leeuwen, E.M. (Elisa) van, Jonsson, V. (Vesteinn), Thorsteinsdottir, U. (Unnur), Despriet, D.D.G. (Dominique), Ennis, S. (Sarah), Moroi, S.E. (Sayoko), Martin, N.G. (Nicholas), Jansonius, N.M. (Nomdo), Yazar, S. (Seyhan), Tai, E.S. (Shyong), Amouyel, P. (Philippe), Kirwan, J. (James), Koolwijk, L.M.E. (Leonieke) van, Hauser, M.A. (Michael), Jonasson, F. (Fridbert), Leo, P.J. (Paul), Loomis, S.J. (Stephanie J.), Fogarty, R. (Rhys), Rivadeneira Ramirez, F. (Fernando), Kearns, L.S. (Lisa S.), Lackner, K.J. (Karl), Jong, P.T.V.M. (Paulus) de, Simpson, C.L. (Claire), Pennell, C.E. (Craig), Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Saw, S-M. (Seang-Mei), Lotery, A.J. (Andrew), Bailey-Wilson, J.E. (Joan E.), Hofman, A. (Albert), Vingerling, J.R. (Hans), Maubaret, C. (Cécilia), Pfeiffer, A.F.H. (Andreas), Wolfs, R.C.W. (Roger), Lemij, H.G. (Hans), Young, T.L. (Terri), Pasquale, L.R. (Louis), Delcourt, C. (Cécile), Spector, T.D. (Timothy), Klaver, C.C.W. (Caroline), Small, K.S. (Kerrin), Burdon, K.P. (Kathryn), Zwart, J-A. (John-Anker), Wong, T.Y. (Tien Yin), Viswanathan, A.C. (Ananth), Mackey, D.A. (David), Craig, J.E. (Jamie), Wiggs, J.L. (Janey), Duijn, C.M. (Cornelia) van, Hammond, C.J. (Christopher), Aung, T. (Tin), Hysi, P.G. (Pirro), Cheng, C-Y. (Ching-Yu), Springelkamp, H. (Henriët), MacGregor, S. (Stuart), Bailey, J.N.C. (Jessica N. Cooke), Wojciechowski, R. (Robert), Vitart, V. (Veronique), Nag, A. (Abhishek), Hewit, A.W. (Alex), Höhn, R. (René), Venturini, C. (Cristina), Mirshahi, A. (Alireza), Ramdas, W.D. (Wishal), Thorleifsson, G. (Gudmar), Vithana, E.N. (Eranga), Khor, C.C., Stefansson, A.B. (Arni B.), Liao, J. (Jie), Haines, J.L. (Jonathan), Amin, N. (Najaf), Wang, Y. (Ying), Wild, P.S. (Philipp S.), Ozel, A.B. (Ayse), Li, J., Fleck, B.W. (Brian W.), Zeller, T. (Tanja), Staffieri, S.E. (Sandra E.), Teo, Y.Y. (Yik Ying), Cuellar-Partida, G. (Gabriel), Luo, X. (Xiaoyan), Allingham, R.R. (R Rand), Richards, J.E. (Julia), Senft, A. (Andrea), Karssen, L.C. (Lennart), Zheng, Y. (Yingfeng), Bellenguez, C. (Céline), Xu, L. (Liang), Iglesias González, A.I. (Adriana), Wilson, J.F. (James F), Kang, J.H. (Jae), Leeuwen, E.M. (Elisa) van, Jonsson, V. (Vesteinn), Thorsteinsdottir, U. (Unnur), Despriet, D.D.G. (Dominique), Ennis, S. (Sarah), Moroi, S.E. (Sayoko), Martin, N.G. (Nicholas), Jansonius, N.M. (Nomdo), Yazar, S. (Seyhan), Tai, E.S. (Shyong), Amouyel, P. (Philippe), Kirwan, J. (James), Koolwijk, L.M.E. (Leonieke) van, Hauser, M.A. (Michael), Jonasson, F. (Fridbert), Leo, P.J. (Paul), Loomis, S.J. (Stephanie J.), Fogarty, R. (Rhys), Rivadeneira Ramirez, F. (Fernando), Kearns, L.S. (Lisa S.), Lackner, K.J. (Karl), Jong, P.T.V.M. (Paulus) de, Simpson, C.L. (Claire), Pennell, C.E. (Craig), Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Saw, S-M. (Seang-Mei), Lotery, A.J. (Andrew), Bailey-Wilson, J.E. (Joan E.), Hofman, A. (Albert), Vingerling, J.R. (Hans), Maubaret, C. (Cécilia), Pfeiffer, A.F.H. (Andreas), Wolfs, R.C.W. (Roger), Lemij, H.G. (Hans), Young, T.L. (Terri), Pasquale, L.R. (Louis), Delcourt, C. (Cécile), Spector, T.D. (Timothy), Klaver, C.C.W. (Caroline), Small, K.S. (Kerrin), Burdon, K.P. (Kathryn), Zwart, J-A. (John-Anker), Wong, T.Y. (Tien Yin), Viswanathan, A.C. (Ananth), Mackey, D.A. (David), Craig, J.E. (Jamie), Wiggs, J.L. (Janey), Duijn, C.M. (Cornelia) van, Hammond, C.J. (Christopher), and Aung, T. (Tin)
Abstract: Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10 '8 for rs6445055), two on chromosome 9 (P = 2.80 × 10 '11 for rs2472493 near ABCA1 and P = 6.39 × 10 '11 for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10 '11 for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.
Published: 2014
Full Text: View/download PDF

19. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

Author: Simpson, C.L. (Claire), Wojciechowski, R. (Robert), Oexle, K. (Konrad), Murgia, D. (Daniela), Portas, L. (Laura), Li, X. (Xiaohui), Virginie, J.M.V. (J.M. Verhoeven), Vitart, V. (Veronique), Schache, M. (Maria), Mohsen Hosseini, S., Hysi, P.G. (Pirro), Raffel, L.J. (Leslie), Cotch, M.F. (Mary Frances), Chew, E.Y. (Emily), Klein, B.E.K. (Barbara), Klein, R. (Ronald), Wong, T.Y. (Tien Yin), Duijn, C.M. (Cornelia) van, Mitchell, P. (Paul), Saw, S-M. (Seang-Mei), Fossarello, M. (Maurizio), Wang, J.J. (Jie Jin), Polasek, O. (Ozren), Campbell, H. (Harry), Rudan, I. (Igor), Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Amin, N. (Najaf), Karssen, L.C. (Lennart), Vingerling, J.R. (Hans), Döring, A. (Angela), Bettecken, T. (Thomas), Bencic, G. (Goran), Gieger, C. (Christian), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Venturini, C. (Cristina), Fleck, B. (Brian), Cumberland, P. (Phillippa), Rahi, J.S. (Jugnoo), Hammond, C.J. (Christopher), Hayward, C. (Caroline), Wright, A. (Alan), Paterson, A.D. (Andrew), Baird, P.N. (Paul), Klaver, C.C.W. (Caroline), Rotter, J.I. (Jerome I.), Pirastu, M. (Mario), Meitinger, T. (Thomas), Bailey-Wilson, J.E. (Joan E.), Stambolian, D.E. (Dwight), Simpson, C.L. (Claire), Wojciechowski, R. (Robert), Oexle, K. (Konrad), Murgia, D. (Daniela), Portas, L. (Laura), Li, X. (Xiaohui), Virginie, J.M.V. (J.M. Verhoeven), Vitart, V. (Veronique), Schache, M. (Maria), Mohsen Hosseini, S., Hysi, P.G. (Pirro), Raffel, L.J. (Leslie), Cotch, M.F. (Mary Frances), Chew, E.Y. (Emily), Klein, B.E.K. (Barbara), Klein, R. (Ronald), Wong, T.Y. (Tien Yin), Duijn, C.M. (Cornelia) van, Mitchell, P. (Paul), Saw, S-M. (Seang-Mei), Fossarello, M. (Maurizio), Wang, J.J. (Jie Jin), Polasek, O. (Ozren), Campbell, H. (Harry), Rudan, I. (Igor), Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Amin, N. (Najaf), Karssen, L.C. (Lennart), Vingerling, J.R. (Hans), Döring, A. (Angela), Bettecken, T. (Thomas), Bencic, G. (Goran), Gieger, C. (Christian), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Venturini, C. (Cristina), Fleck, B. (Brian), Cumberland, P. (Phillippa), Rahi, J.S. (Jugnoo), Hammond, C.J. (Christopher), Hayward, C. (Caroline), Wright, A. (Alan), Paterson, A.D. (Andrew), Baird, P.N. (Paul), Klaver, C.C.W. (Caroline), Rotter, J.I. (Jerome I.), Pirastu, M. (Mario), Meitinger, T. (Thomas), Bailey-Wilson, J.E. (Joan E.), and Stambolian, D.E. (Dwight)
Abstract: Refractive error (RE) is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness) and hyperopia (farsightedness), which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25610-8), which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE) refractive error. We observed two genomewide significant associations
Published: 2014
Full Text: View/download PDF

20. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

Author: Cross, J.L., primary, Iben, J., additional, Simpson, C.L., additional, Thurm, A., additional, Swedo, S., additional, Tierney, E., additional, Bailey-Wilson, J.E., additional, Biesecker, L.G., additional, Porter, F.D., additional, and Wassif, C.A., additional
Published: 2014
Full Text: View/download PDF

21. Segregation analysis of 389 Icelandic pedigrees with Breast and prostate cancer

Author: Baffoe-Bonnie, A.B., Kiemeney, L.A.L.M., Beaty, T.H., Bailey-Wilson, J.E., Schnell, A.H., Sigvaldason, H., Olafsdóttir, G., Tryggvadottir, L., and Tulinius, H.
Subjects: Epidemiologie, Epidemiology, Urological oncology, Urologische oncologie
Abstract: Item does not contain fulltext Breast cancer and prostate cancer are the most commonly occurring cancers in females and males, respectively. The objective of this project was to test the hypothesis that breast cancer in females and prostate cancer in males represent homologous cancers that may be controlled by one or more common unidentified genes that may explain some of the observed familial aggregation. We modeled the transmission of a breast-prostate cancer phenotype in 389 pedigrees ascertained through a breast cancer proband drawn from the Icelandic Cancer Registry. Assuming that age at diagnosis of this combined phenotype followed a logistic distribution, segregation analyses were performed to evaluate residual parental effects, a sibship covariate, and a dichotomous cohort effect. The most parsimonious model was a Mendelian codominant model, which could partly explain the familial aggregation of both cancers. Inheritance of a putative high-risk allele (A) predicted gender-specific mean ages of onset for females as 53.8 years, 59.7 years, and 65.6 years for the putative AA, AB, and BB genotypes, respectively. Similarly, the predicted means were 73.7 years, 75.6 years, and 78.3 years, respectively, among males. Under this codominant model, the lifetime risk of a woman being affected was 19% by age 80 years. This implies that when prostate cancer among male relatives of breast cancer probands (unselected for family history or early-onset disease) is considered a pleiotrophic effect of the same gene that increases the risk for breast cancer, women are predicted to have a less than 1 in 5 risk of developing breast cancer when they carry the putative high-risk allele. However, this is a higher risk than in the general Icelandic population. Our results suggest that BRCA2 mutations alone are inadequate to explain all of the excess clustering of prostate cancer cases in families of breast cancer probands, and that additional genes conferring excess risk to both breast and prostate cancer may exist in this population. Genet. Epidemiol. 23:349-363, 2002.
Published: 2002

22. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author: Verhoeven, V.J.M. (Virginie), Hysi, P.G. (Pirro), Wojciechowski, R. (Robert), Fan, Q. (Qiao), Guggenheim, J. (Jean), Höhn, R. (René), MacGregor, S. (Stuart), Hewit, A.W. (Alex), Nag, A. (Abhishek), Cheng, C-Y. (Ching-Yu), Yonova-Doing, E. (Ekaterina), Zhou, X. (Xin), Ikram, M.K. (Kamran), Buitendijk, G.H.S. (Gabrielle), Mcmahon, G. (George), Kemp, J.P. (John), Pourcain, B.S. (Beate), Simpson, C.L. (Claire), Mäkelä, M.J., Lehtimäki, T. (Terho), Kähönen, M. (Mika), Paterson, A.D. (Andrew), Hosseini, M. (Mehran), Wong, H.S. (Hoi Suen), Xu, L. (Liang), Jonas, J.B., Pärssinen, O. (Olavi), Wedenoja, J. (Juho), Yip, S.P. (Shea Ping), Ho, D.W.H. (Daniel), Pang, C.P. (Chi), Chen, L.J. (Li), Burdon, K.P. (Kathryn), Craig, J.E. (Jamie), Klein, B.E.K. (Barbara), Haller, T. (Toomas), Metspalu, A. (Andres), Khor, C.C., Tai, E.S. (Shyong), Aung, T. (Tin), Vithana, E.N. (Eranga), Tay, W.-T. (Wan-Ting), Barathi, V.A. (Veluchamy), Chen, P. (Ping), Li, R. (Rui), Liao, J. (Jie), Zheng, Y. (Yuhui), Ong, R.T.H. (Rick Twee-Hee), Döring, A. (Angela), Evans, D.M. (David), Timpson, N.J. (Nicholas), Verkerk, A., Meitinger, T. (Thomas), Raitakari, O. (Olli), Hawthorne, F. (Felicia), Spector, T.D. (Timothy), Karssen, L.C. (Lennart), Pirastu, M. (Mario), Murgia, D. (Daniela), Ang, W.Q. (Wei), Mishra, A. (Aniket), Montgomery, G.W. (Grant), Pennell, C.E. (Craig), Cumberland, P. (Phillippa), Cotlarciuc, I. (Ioana), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Schache, M. (Maria), Janmahasathian, S. (Sarayut), Igo Jr., R.P. (Robert), Lass Jr., J.H. (Jonathan), Chew, E.Y. (Emily), Iyengar, S.K. (Sudha), Gorgels, T.G.M.F. (Theo), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Polasek, O. (Ozren), Vatavuk, Z. (Zoran), Wilson, J.F. (James), Fleck, B. (Brian), Zeller, T. (Tanja), Mirshahi, A. (Alireza), Müller, C. (Christian), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Hofman, A. (Albert), Oostra, B.A. (Ben), Amin, N. (Najaf), Bergen, A.A.B. (Arthur), Teo, Y.Y. (Yik Ying), Rahi, J.S. (Jugnoo), Vitart, V. (Veronique), Williams, C. (Cathy), Baird, P.N. (Paul), Wong, T.Y. (Tien Yin), Oexle, K. (Konrad), Pfeiffer, A.F.H. (Andreas), Mackey, D.A. (David), Young, T.L. (Terri), Duijn, C.M. (Cornelia) van, Saw, S-M. (Seang-Mei), Bailey-Wilson, J.E. (Joan), Stambolian, D.E. (Dwight), Klaver, C.C.W. (Caroline), Hammond, C.J. (Christopher), Verhoeven, V.J.M. (Virginie), Hysi, P.G. (Pirro), Wojciechowski, R. (Robert), Fan, Q. (Qiao), Guggenheim, J. (Jean), Höhn, R. (René), MacGregor, S. (Stuart), Hewit, A.W. (Alex), Nag, A. (Abhishek), Cheng, C-Y. (Ching-Yu), Yonova-Doing, E. (Ekaterina), Zhou, X. (Xin), Ikram, M.K. (Kamran), Buitendijk, G.H.S. (Gabrielle), Mcmahon, G. (George), Kemp, J.P. (John), Pourcain, B.S. (Beate), Simpson, C.L. (Claire), Mäkelä, M.J., Lehtimäki, T. (Terho), Kähönen, M. (Mika), Paterson, A.D. (Andrew), Hosseini, M. (Mehran), Wong, H.S. (Hoi Suen), Xu, L. (Liang), Jonas, J.B., Pärssinen, O. (Olavi), Wedenoja, J. (Juho), Yip, S.P. (Shea Ping), Ho, D.W.H. (Daniel), Pang, C.P. (Chi), Chen, L.J. (Li), Burdon, K.P. (Kathryn), Craig, J.E. (Jamie), Klein, B.E.K. (Barbara), Haller, T. (Toomas), Metspalu, A. (Andres), Khor, C.C., Tai, E.S. (Shyong), Aung, T. (Tin), Vithana, E.N. (Eranga), Tay, W.-T. (Wan-Ting), Barathi, V.A. (Veluchamy), Chen, P. (Ping), Li, R. (Rui), Liao, J. (Jie), Zheng, Y. (Yuhui), Ong, R.T.H. (Rick Twee-Hee), Döring, A. (Angela), Evans, D.M. (David), Timpson, N.J. (Nicholas), Verkerk, A., Meitinger, T. (Thomas), Raitakari, O. (Olli), Hawthorne, F. (Felicia), Spector, T.D. (Timothy), Karssen, L.C. (Lennart), Pirastu, M. (Mario), Murgia, D. (Daniela), Ang, W.Q. (Wei), Mishra, A. (Aniket), Montgomery, G.W. (Grant), Pennell, C.E. (Craig), Cumberland, P. (Phillippa), Cotlarciuc, I. (Ioana), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Schache, M. (Maria), Janmahasathian, S. (Sarayut), Igo Jr., R.P. (Robert), Lass Jr., J.H. (Jonathan), Chew, E.Y. (Emily), Iyengar, S.K. (Sudha), Gorgels, T.G.M.F. (Theo), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Polasek, O. (Ozren), Vatavuk, Z. (Zoran), Wilson, J.F. (James), Fleck, B. (Brian), Zeller, T. (Tanja), Mirshahi, A. (Alireza), Müller, C. (Christian), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Hofman, A. (Albert), Oostra, B.A. (Ben), Amin, N. (Najaf), Bergen, A.A.B. (Arthur), Teo, Y.Y. (Yik Ying), Rahi, J.S. (Jugnoo), Vitart, V. (Veronique), Williams, C. (Cathy), Baird, P.N. (Paul), Wong, T.Y. (Tien Yin), Oexle, K. (Konrad), Pfeiffer, A.F.H. (Andreas), Mackey, D.A. (David), Young, T.L. (Terri), Duijn, C.M. (Cornelia) van, Saw, S-M. (Seang-Mei), Bailey-Wilson, J.E. (Joan), Stambolian, D.E. (Dwight), Klaver, C.C.W. (Caroline), and Hammond, C.J. (Christopher)
Abstract: Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.
Published: 2013
Full Text: View/download PDF

23. Autosomal dominant inheritance of prostate cancer: a confirmatory study

Author: Verhage, B., Baffoe-Bonnie, A.B., Baglietto, L., Smith, D.S., Bailey-Wilson, J.E., Beaty, T.H., Catalona, W.J., and Kiemeney, L.A.L.M.
Subjects: Epidemiologie, Epidemiology, Urological oncology, Urologische oncologie
Abstract: Item does not contain fulltext OBJECTIVES: To confirm, in a study of a large, independent cohort of families with prostate cancer, the findings of three segregation analyses that have suggested the existence of an inherited form of prostate cancer with an autosomal dominant inheritance mode. METHODS: Between January 1991 and December 1993, 1199 pedigrees were ascertained through single, unrelated, prostate cancer probands who presented for radical prostatectomy at the Division of Urologic Surgery, Washington University Medical Center in St. Louis, Missouri. Maximum likelihood segregation analysis was used to test specifically for mendelian inheritance of prostate cancer. RESULTS: Segregation analyses revealed that the familial aggregation of prostate cancer can be best explained by the autosomal dominant inheritance of a rare (q = 0.0037) high-risk allele. According to the best-fitting autosomal dominant model, 97% of all carriers will be affected by 85 years of age compared with 10% of noncarriers. Furthermore, the autosomal dominant model predicts that the high-risk allele accounts for a large proportion (65%) of all patients diagnosed with prostate cancer before 56 years of age. However, of all prostate cancer cases, a relatively small proportion is inherited (8% by 85 years old). CONCLUSIONS: These results are in agreement with earlier reports of segregation analyses of prostate cancer and strengthen the evidence that prostate cancer is inherited in a mendelian fashion within a subset of families.
Published: 2001

24. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author: Verhoeven, V.J.M. (Virginie), Hysi, P.G. (Pirro), Saw, S-M. (Seang-Mei), Vitart, V. (Veronique), Mirshahi, A. (Alireza), Guggenheim, J. (Jean), Cotch, M.F. (Mary Frances), Yamashiro, K. (Kenji), Baird, P.N. (Paul), Mackey, D.A. (David), Wojciechowski, R. (Robert), Ikram, M.K. (Kamran), Hewit, A.W. (Alex), Duggal, P. (Priya), Janmahasatian, S. (Sarayut), Khor, C.C., Fan, Q. (Qiao), Zhou, X. (Xinying), Young, T.L. (Terri), Tai, E.S. (Shyong), Goh, L.-K., Li, Y.J. (Yi), Aung, T. (Tin), Vithana, E.N. (Eranga), Teo, Y.Y. (Yik Ying), Tay, W.-T., Sim, X. (Xueling), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Polasek, O. (Ozren), Campbell, H. (Harry), Wilson, J.F. (James), Fleck, B. (Brian), Nakata, I. (Isao), Yoshimura, N., Yamada, R. (Ryo), Matsuda, F. (Fumihiko), Ohno-Matsui, K. (Kyoko), Nag, A. (Abhishek), Mcmahon, G. (George), St Pourcain, B. (Beate), Lu, Y. (Yi), Rahi, J.S. (Jugnoo), Cumberland, P. (Phillippa), Bhattacharya, S. (Shoumo), Simpson, C.L. (Claire), Atwood, L.D. (Larry), Li, X. (Xiaohui), Raffel, L.J. (Leslie), Murgia, D. (Daniela), Portas, L. (Laura), Despriet, D.D.G. (Dominique), Koolwijk, L.M.E. (Leonieke) van, Wolfram, C. (Christian), Lackner, K.J. (Karl), Tönjes, A. (Anke), Mägi, R. (Reedik), Lehtimäki, T. (Terho), Kähönen, M. (Mika), Esko, T. (Tõnu), Metspalu, A. (Andres), Rantanen, T. (Taina), Pärssinen, O. (Olavi), Klein, B.E.K. (Barbara), Meitinger, T. (Thomas), Spector, T.D. (Timothy), Oostra, B.A. (Ben), Smith, A.V. (Davey), Jong, P.T.V.M. (Paulus) de, Hofman, A. (Albert), Amin, N. (Najaf), Karssen, L.C. (Lennart), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Eiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Döring, A. (Angela), Bettecken, T. (Thomas), Uitterlinden, A.G. (André), Williams, C. (Cathy), Zeller, T. (Tanja), Castagne, R. (Raphaële), Oexle, K. (Konrad), Duijn, C.M. (Cornelia) van, Iyengar, S.K. (Sudha), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Höhn, R. (René), Pfeiffer, A.F.H. (Andreas), Bailey-Wilson, J.E. (Joan), Stambolian, D.E. (Dwight), Wong, T.Y. (Tien Yin), Hammond, C.J. (Christopher), Klaver, C.C.W. (Caroline), Verhoeven, V.J.M. (Virginie), Hysi, P.G. (Pirro), Saw, S-M. (Seang-Mei), Vitart, V. (Veronique), Mirshahi, A. (Alireza), Guggenheim, J. (Jean), Cotch, M.F. (Mary Frances), Yamashiro, K. (Kenji), Baird, P.N. (Paul), Mackey, D.A. (David), Wojciechowski, R. (Robert), Ikram, M.K. (Kamran), Hewit, A.W. (Alex), Duggal, P. (Priya), Janmahasatian, S. (Sarayut), Khor, C.C., Fan, Q. (Qiao), Zhou, X. (Xinying), Young, T.L. (Terri), Tai, E.S. (Shyong), Goh, L.-K., Li, Y.J. (Yi), Aung, T. (Tin), Vithana, E.N. (Eranga), Teo, Y.Y. (Yik Ying), Tay, W.-T., Sim, X. (Xueling), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Polasek, O. (Ozren), Campbell, H. (Harry), Wilson, J.F. (James), Fleck, B. (Brian), Nakata, I. (Isao), Yoshimura, N., Yamada, R. (Ryo), Matsuda, F. (Fumihiko), Ohno-Matsui, K. (Kyoko), Nag, A. (Abhishek), Mcmahon, G. (George), St Pourcain, B. (Beate), Lu, Y. (Yi), Rahi, J.S. (Jugnoo), Cumberland, P. (Phillippa), Bhattacharya, S. (Shoumo), Simpson, C.L. (Claire), Atwood, L.D. (Larry), Li, X. (Xiaohui), Raffel, L.J. (Leslie), Murgia, D. (Daniela), Portas, L. (Laura), Despriet, D.D.G. (Dominique), Koolwijk, L.M.E. (Leonieke) van, Wolfram, C. (Christian), Lackner, K.J. (Karl), Tönjes, A. (Anke), Mägi, R. (Reedik), Lehtimäki, T. (Terho), Kähönen, M. (Mika), Esko, T. (Tõnu), Metspalu, A. (Andres), Rantanen, T. (Taina), Pärssinen, O. (Olavi), Klein, B.E.K. (Barbara), Meitinger, T. (Thomas), Spector, T.D. (Timothy), Oostra, B.A. (Ben), Smith, A.V. (Davey), Jong, P.T.V.M. (Paulus) de, Hofman, A. (Albert), Amin, N. (Najaf), Karssen, L.C. (Lennart), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Eiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Döring, A. (Angela), Bettecken, T. (Thomas), Uitterlinden, A.G. (André), Williams, C. (Cathy), Zeller, T. (Tanja), Castagne, R. (Raphaële), Oexle, K. (Konrad), Duijn, C.M. (Cornelia) van, Iyengar, S.K. (Sudha), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Höhn, R. (René), Pfeiffer, A.F.H. (Andreas), Bailey-Wilson, J.E. (Joan), Stambolian, D.E. (Dwight), Wong, T.Y. (Tien Yin), Hammond, C.J. (Christopher), and Klaver, C.C.W. (Caroline)
Abstract: Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10 -12 for SNP rs634990 in Caucasians, and 9.65 × 10 -4 for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10 -23 for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10 -2 for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.
Published: 2012
Full Text: View/download PDF

25. Segregation analysis of urothelial cell carcinoma.

Author: Aben, K.K.H., Baglietto, L., Baffoe-Bonnie, A.B., Coebergh, J.W.W., Bailey-Wilson, J.E., Trink, B., Verbeek, A.L.M., Schoenberg, M.P., Witjes, J.A., Kiemeney, L.A.L.M., Aben, K.K.H., Baglietto, L., Baffoe-Bonnie, A.B., Coebergh, J.W.W., Bailey-Wilson, J.E., Trink, B., Verbeek, A.L.M., Schoenberg, M.P., Witjes, J.A., and Kiemeney, L.A.L.M.
Abstract: Contains fulltext : 49842.pdf (publisher's version ) (Closed access), A family history of urothelial cell carcinoma (UCC) confers an almost two-fold increased risk of developing UCC. It is unknown whether (part of) this aggregation of UCC has a Mendelian background. We performed complex segregation analyses on 1193 families ascertained through a proband with UCC of the bladder, ureter, renal pelvis or urethra, who were newly diagnosed between January 1, 1995 and December 31, 1997 and registered by two population-based cancer registries in the southeastern part of the Netherlands. Data were reported on 10 738 first-degree relatives by postal questionnaire; 101 of these relatives had UCC. All reported occurrences of UCC were verified (if possible) using medical records. Analyses were performed with the S.A.G.E. segregation package. Five restricted models (Mendelian dominant, Mendelian recessive, Mendelian co-dominant, 'no major gene' model and environmental model) were tested against the general unrestricted model. Sex and smoking status were incorporated as covariates. Strong evidence of Mendelian inheritance of UCC through a single major gene was not found in these 1 193 families. However, since none of the Mendelian models could be rejected, an inherited subtype of UCC cannot be excluded. A major gene may segregate in some families but this effect may have been masked in a background of high sporadic incidence. The 'no major gene' (or sporadic) model appeared to be the most parsimonious one to describe the occurrence of UCC in these families.
Published: 2006

26. A founder mutation in LEPRE1 causes lethal recessive type VIII osteogenesis imperfecta and occurs in West Africans and African Americans

Author: Cabral, W.A., primary, Barnes, A.M., additional, Chitayat, D., additional, Porter, F.D., additional, Panny, S.R., additional, Rebbeck, T.R., additional, Tishkoff, S.A., additional, Bailey-Wilson, J.E., additional, Brody, L.C., additional, Rotimi, C.N., additional, and Marini, J.C., additional
Published: 2010
Full Text: View/download PDF

27. Genetic epidemiology of breast cancer: segregation analysis of 389 Icelandic pedigrees

Author: Baffoe-Bonnie, A.B., Beaty, T.H., Bailey-Wilson, J.E., Kiemeney, L.A.L.M., Sigvaldason, H., Olafsdóttir, G., Tryggvadottir, L., Tulinius, H., Baffoe-Bonnie, A.B., Beaty, T.H., Bailey-Wilson, J.E., Kiemeney, L.A.L.M., Sigvaldason, H., Olafsdóttir, G., Tryggvadottir, L., and Tulinius, H.
Abstract: Item does not contain fulltext
Published: 2000

28. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Author: Cross, J.L., Iben, J., Simpson, C.L., Thurm, A., Swedo, S., Tierney, E., Bailey‐Wilson, J.E., Biesecker, L.G., Porter, F.D., and Wassif, C.A.
Subjects: NUCLEOTIDE sequence, SINGLE nucleotide polymorphisms, GENE frequency, OPITZ-Frias syndrome, GENETIC code
Abstract: Data from massively parallel sequencing or 'Next Generation Sequencing' of the human exome has reached a critical mass in both public and private databases, in that these collections now allow researchers to critically evaluate population genetics in a manner that was not feasible a decade ago. The ability to determine pathogenic allele frequencies by evaluation of the full coding sequences and not merely a single nucleotide polymorphism ( SNP) or series of SNPs will lead to more accurate estimations of incidence. For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndrome ( SLOS), the 7-dehydrocholesterol reductase ( DHCR7) gene and determined both the carrier frequency for DHCR7 mutations, and predicted an expected incidence of the disorder. Estimations of the incidence of SLOS have ranged widely from 1:10,000 to 1:70,000 while the carrier frequency has been reported as high as 1 in 30. Using four exome data sets with a total of 17,836 chromosomes, we ascertained a carrier frequency of pathogenic DHRC7 mutations of 1.01%, and predict a SLOS disease incidence of 1/39,215 conceptions. This approach highlights yet another valuable aspect of the exome sequencing databases, to inform clinical and health policy decisions related to genetic counseling, prenatal testing and newborn screening. [ABSTRACT FROM AUTHOR]
Published: 2015
Full Text: View/download PDF

29. Introduction: Association and Transmission/Disequilibrium Test Analyses of Discrete Traits in the GAW12 Simulated Data

Author: Bailey-Wilson, J.E., primary
Published: 2001
Full Text: View/download PDF

30. Comparison of Novel and Existing Methods for Detection of Linkage Disequilibrium Using Parent‐Child Trios in the GAW12 Genetic Isolate Simulated Data

Author: Bailey-Wilson, J.E., primary, Sorant, A.J.M., additional, Malley, J.D., additional, Presciuttini, S., additional, Redner, R.A., additional, Severini, T.A., additional, Badner, J.A., additional, Pajevic, S., additional, Jufer, R., additional, Baffoe-Bonnie, A., additional, Kao, L., additional, Doan, B.Q., additional, Goldstein, J.L., additional, Holmes, T.N., additional, Behneman, D., additional, Mandal, D.M., additional, Turley, T.N., additional, Weissbecker, K.A., additional, O'Neill, J., additional, and Pugh, E.W., additional
Published: 2001
Full Text: View/download PDF

31. Identification of a major susceptibility locus for human prostate cancer

Author: Trent, J.M., primary, Smith, J.R., additional, Freije, D., additional, Carpten, J.D., additional, Gronberg, H., additional, Xu, J., additional, Isaacs, S.D., additional, Brownstein, M.J., additional, Bova, G.S., additional, Guo, H., additional, Bujnovszky, P., additional, Nusskern, D.R., additional, Damber, J.E., additional, Bergh, A., additional, Emanuelsson, M., additional, Kallioniemi, O.P., additional, Walker Daniels, J., additional, Bailey-Wilson, J.E., additional, Beaty, T.H., additional, Meyers, D.A., additional, Walsh, P.C., additional, Collins, F.S., additional, and Isaacs, W.B., additional
Published: 1997
Full Text: View/download PDF

32. Response to Craddock et al.

Author: Spence, M. Anne, primary, Flodman, P. L., additional, Sadovnik, A.D., additional, Ameli, H., additional, Bailey-Wilson, J.E., additional, and Remick, R.A., additional
Published: 1997
Full Text: View/download PDF

33. Sib-pair linkage analysis applied to pedigrees with melanoma and dysplastic nevi

Author: Bailey-Wilson, J.E., primary and Dobbins, T.E., additional
Published: 1992
Full Text: View/download PDF

34. A Comprehensive Method for Genome Scans

Author: Malley, J.D., Naiman, D.Q., and Bailey-Wilson, J.E.
Abstract: AbstractIn applications involving the use of genome scans the problem of correcting for multiple testing figures prominently. A frequently used approach is the Bonferroni adjustment, but this is known to be often severely conservative. As an alternative we use the method of importance sampling to accurately and efficiently obtain required exceedance probabilities. This method is comprehensive in the sense that it has application to exceedance probabilities for other classes of test statistics, such as those for linkage disequilibrium or Hardy-Weinberg equilibrium at multiple loci. We illustrate the importance sampling technique by focusing on affected sib pair tests done at a large number of fully informative markers. We demonstrate how our approach can be used to obtain exceedance probabilities for arbitrary marker spacings, and we compare our approach with that of Feingold et al. [1993], which uses the method of large deviations and does not provide the means for adjusting for unequal marker spacing.Copyright © 2002 S. Karger AG, Basel
Published: 2003

35. Sib-pair linkage analysis applied to pedigrees with melanoma and dysplastic nevi.

Author: Bailey-Wilson, J.E. and Dobbins, T.E.
Published: 1992
Full Text: View/download PDF

36. A genome wide screen in an unusually large inflammatory bowel disease pedigree: Suggestive evidence for linkage on chromosomes 18p, 7p and 15q; No evidence for IBD1 or IBD2 loci

Author: Karban, A.S., Panhuysen, C.I.M., Bailey-Wilson, J.E., Friedman, Y., Ravenhill, G., Cho, J.H., Duerr, R.H., Bayless, T.M., Epstein, E.H., and Brant, S.R.
Published: 2001
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Database

Publisher

36 results on '"Bailey-Wilson, J.E."'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources