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2. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry

Author

Hauser, M.A., Allingham, R.R., Aung, T., Heide, C.J. Van Der, Taylor, K.D., Rotter, J.I., Wang, S.J., Bonnemaijer, P.W.M., Williams, S.E., Abdullahi, S.M., Abu-Amero, K.K., Anderson, M.G., Akafo, S., Alhassan, M.B., Asimadu, I., Ayyagari, R., Bakayoko, S., Nyamsi, P.B., Bowden, D.W., Bromley, W.C., Budenz, D.L., Carmichael, T.R., Challa, P., Chen, Yi, Chuka-Okosa, C.M., Bailey, J.N., Costa, V.P., Cruz, Dario, DuBiner, H., Ervin, J.F., Feldman, R.M., Flamme-Wiese, M., Gaasterland, D.E., Garnai, S.J., Girkin, C.A., Guirou, N., Guo, X., Haines, J.L., Hammond, C.J., Herndon, L., Hoffmann, T.J., Hulette, C.M., Hydara, A., Igo, R.P., Jr., Jorgenson, E., Kabwe, J., Kilangalanga, N.J., Kizor-Akaraiwe, N., Kuchtey, R.W., Lamari, H., Li, Z, Liebmann, J.M., Liu, Y, Loos, R.J., Melo, M.B., Moroi, S.E., Msosa, J.M., Mullins, R.F., Nadkarni, G., Napo, A., Ng, M.C., Nunes, H.F., Obeng-Nyarkoh, E., Okeke, A., Okeke, S., Olaniyi, O., Olawoye, O., Oliveira, M.B., Pasquale, L.R., Perez-Grossmann, R.A., Pericak-Vance, M.A., Qin, X., Ramsay, M., Resnikoff, S., Richards, J.E., Schimiti, R.B., Sim, K.S., Sponsel, W.E., Svidnicki, P.V., Thiadens, A., Uche, N.J., Duijn, C.M. van, Vasconcellos, J.P.C. de, Wiggs, J.L., Zangwill, L.M., Risch, N., Milea, D., Ashaye, A., Klaver, C.C.W., Weinreb, R.N., Koch, A.E., Fingert, J.H., Khor, C.C., Hauser, M.A., Allingham, R.R., Aung, T., Heide, C.J. Van Der, Taylor, K.D., Rotter, J.I., Wang, S.J., Bonnemaijer, P.W.M., Williams, S.E., Abdullahi, S.M., Abu-Amero, K.K., Anderson, M.G., Akafo, S., Alhassan, M.B., Asimadu, I., Ayyagari, R., Bakayoko, S., Nyamsi, P.B., Bowden, D.W., Bromley, W.C., Budenz, D.L., Carmichael, T.R., Challa, P., Chen, Yi, Chuka-Okosa, C.M., Bailey, J.N., Costa, V.P., Cruz, Dario, DuBiner, H., Ervin, J.F., Feldman, R.M., Flamme-Wiese, M., Gaasterland, D.E., Garnai, S.J., Girkin, C.A., Guirou, N., Guo, X., Haines, J.L., Hammond, C.J., Herndon, L., Hoffmann, T.J., Hulette, C.M., Hydara, A., Igo, R.P., Jr., Jorgenson, E., Kabwe, J., Kilangalanga, N.J., Kizor-Akaraiwe, N., Kuchtey, R.W., Lamari, H., Li, Z, Liebmann, J.M., Liu, Y, Loos, R.J., Melo, M.B., Moroi, S.E., Msosa, J.M., Mullins, R.F., Nadkarni, G., Napo, A., Ng, M.C., Nunes, H.F., Obeng-Nyarkoh, E., Okeke, A., Okeke, S., Olaniyi, O., Olawoye, O., Oliveira, M.B., Pasquale, L.R., Perez-Grossmann, R.A., Pericak-Vance, M.A., Qin, X., Ramsay, M., Resnikoff, S., Richards, J.E., Schimiti, R.B., Sim, K.S., Sponsel, W.E., Svidnicki, P.V., Thiadens, A., Uche, N.J., Duijn, C.M. van, Vasconcellos, J.P.C. de, Wiggs, J.L., Zangwill, L.M., Risch, N., Milea, D., Ashaye, A., Klaver, C.C.W., Weinreb, R.N., Koch, A.E., Fingert, J.H., and Khor, C.C.

Abstract

Item does not contain fulltext, Importance: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. Objectives: To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. Design, Settings, and Participants: A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma. Exposures: Genetic variants associated with primary open-angle glaucoma. Main Outcomes and Measures: Presence of primary open-angle glaucoma. Genome-wide significance was defined as P < 5 x 10-8 in the discovery stage and in the meta-analysis of combined discovery and validation data. Results: A total of 2320 individuals with primary open-angle glaucoma (mean [interquartile range] age, 64.6 [56-74] years; 1055 [45.5%] women) and 2121 individuals without primary open-angle glaucoma (mean [interquartile range] age, 63.4 [55-71] years; 1025 [48.3%] women) were included in the discovery GWAS. Th

Published
2019

3. Axial length and optic disc size in normal eyes

Author

Oliveira, C., Harizman, N., Girkin, C.A., Xie, A., Tello, C., Liebmann, J.M., and Ritch, R.

Subjects
Optic disc -- Physiological aspects, Optic disc -- Research, Myopia -- Physiological aspects, Myopia -- Research, Glaucoma -- Risk factors, Glaucoma -- Diagnosis, Glaucoma -- Research, Health
Published
2007

5. Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

Author

Bonnemaijer, P.W.M., Iglesias, A.I., Nadkarni, G.N., Sanyiwa, A.J., Hassan, H.G., Cook, C., Simcoe, M., Taylor, K.D., Schurmann, C., Belbin, G.M., Kenny, E.E., Bottinger, E.P., Laar, S. van de, Wiliams, S.E.I., Akafo, S.K., Ashaye, A.O., Zangwill, L.M., Girkin, C.A., Ng, M.C., Rotter, J.I., Weinreb, R.N., Li, Z., Allingham, R.R., Nag, A., Hysi, P.G., Meester-Smoor, M.A., Wiggs, J.L., Hauser, M.A., Hammond, C.J., Lemij, H.G., Loos, R.J., Duijn, C.M. van, Thiadens, A., Klaver, C.C.W., Bonnemaijer, P.W.M., Iglesias, A.I., Nadkarni, G.N., Sanyiwa, A.J., Hassan, H.G., Cook, C., Simcoe, M., Taylor, K.D., Schurmann, C., Belbin, G.M., Kenny, E.E., Bottinger, E.P., Laar, S. van de, Wiliams, S.E.I., Akafo, S.K., Ashaye, A.O., Zangwill, L.M., Girkin, C.A., Ng, M.C., Rotter, J.I., Weinreb, R.N., Li, Z., Allingham, R.R., Nag, A., Hysi, P.G., Meester-Smoor, M.A., Wiggs, J.L., Hauser, M.A., Hammond, C.J., Lemij, H.G., Loos, R.J., Duijn, C.M. van, Thiadens, A., and Klaver, C.C.W.

Abstract

Contains fulltext : 200131.pdf (publisher's version ) (Open Access), Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide efforts to elucidate the genetic complexity of POAG in African populations has been limited. We conducted a genome-wide association study in 1113 POAG cases and 1826 controls from Tanzanian, South African and African American study samples. Apart from confirming evidence of association at TXNRD2 (rs16984299; OR[T] 1.20; P = 0.003), we found that a genetic risk score combining the effects of the 15 previously reported POAG loci was significantly associated with POAG in our samples (OR 1.56; 95% CI 1.26-1.93; P = 4.79 x 10(-5)). By genome-wide association testing we identified a novel candidate locus, rs141186647, harboring EXOC4 (OR[A] 0.48; P = 3.75 x 10(-8)), a gene transcribing a component of the exocyst complex involved in vesicle transport. The low frequency and high degree of genetic heterogeneity at this region hampered validation of this finding in predominantly West-African replication sets. Our results suggest that established genetic risk factors play a role in African POAG, however, they do not explain the higher disease load. The high heterogeneity within Africans remains a challenge to identify the genetic commonalities for POAG in this ethnicity, and demands studies of extremely large size.

Published
2018

6. Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

Author

Bonnemaijer, P.W.M. (Pieter), Iglesias, A.I. (Adriana I.), Nadkarni, G.N. (Girish N.), Sanyiwa, A.J. (Anna J.), Hassan, H.G. (Hassan G.), Cook, C. (Colin), Simcoe, M. (Mark), Taylor, K.D. (Kent), Schurmann, C. (Claudia), Belbin, G.M. (Gillian M.), Kenny, E.E. (Eimear E.), Bottinger, E.P. (Erwin P.), van de Laar, S. (Suzanne), Wiliams, S.E.I. (Susan E. I.), Akafo, S.K. (Stephen K.), Ashaye, A.O. (Adeyinka O.), Zangwill, L.M. (Linda), Girkin, C.A. (Christopher A.), Ng, M.C.Y. (Maggie C.Y.), Rotter, J.I. (Jerome I.), Weinreb, R.N. (Robert N.), Li, Z. (Zheng), Allingham, R.R. (R Rand), Nag, A. (Abhishek), Hysi, P.G. (Pirro G.), Meester-Smoor, M.A. (Magda), Wiggs, J.L. (Janey L.), Hauser, M.A. (Michael A.), Hammond, C.J. (Christopher J.), Lemij, H.G. (Hans G.), Loos, R.J.F. (Ruth), Duijn, C.M. (Cornelia) van, Thiadens, A.A.H.J. (Alberta), Klaver, C.C.W. (Caroline), Bonnemaijer, P.W.M. (Pieter), Iglesias, A.I. (Adriana I.), Nadkarni, G.N. (Girish N.), Sanyiwa, A.J. (Anna J.), Hassan, H.G. (Hassan G.), Cook, C. (Colin), Simcoe, M. (Mark), Taylor, K.D. (Kent), Schurmann, C. (Claudia), Belbin, G.M. (Gillian M.), Kenny, E.E. (Eimear E.), Bottinger, E.P. (Erwin P.), van de Laar, S. (Suzanne), Wiliams, S.E.I. (Susan E. I.), Akafo, S.K. (Stephen K.), Ashaye, A.O. (Adeyinka O.), Zangwill, L.M. (Linda), Girkin, C.A. (Christopher A.), Ng, M.C.Y. (Maggie C.Y.), Rotter, J.I. (Jerome I.), Weinreb, R.N. (Robert N.), Li, Z. (Zheng), Allingham, R.R. (R Rand), Nag, A. (Abhishek), Hysi, P.G. (Pirro G.), Meester-Smoor, M.A. (Magda), Wiggs, J.L. (Janey L.), Hauser, M.A. (Michael A.), Hammond, C.J. (Christopher J.), Lemij, H.G. (Hans G.), Loos, R.J.F. (Ruth), Duijn, C.M. (Cornelia) van, Thiadens, A.A.H.J. (Alberta), and Klaver, C.C.W. (Caroline)

Abstract

Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide efforts to elucidate the genetic complexity of POAG in African populations has been limited. We conducted a genome-wide association study in 1113 POAG cases and 1826 controls from Tanzanian, South African and African American study samples. Apart from confirming evidence of association at TXNRD2 (rs16984299; OR[T] 1.20; P = 0.003), we found that a genetic risk score combining the effects of the 15 previously reported POAG loci was significantly associated with POAG in our samples (OR 1.56; 95% CI 1.26–1.93; P = 4.79 × 10−5). By genome-wide association testing we identified a novel candidate locus, rs141186647, harboring EXOC4 (OR[A] 0.48; P = 3.75 × 10−8), a gene transcribing a component of the exocyst complex involved in vesicle transport. The low frequency and high degree of genetic heterogeneity at this region hampered validation of this finding in predominantly West-African replication sets. Our results suggest that established genetic risk factors play a role in African POAG, however, they do not explain the higher disease load. The high heterogeneity within Africans remains a challenge to identify the genetic commonalities for POAG in this ethnicity, and demands studies of extremely large size.

Published
2018
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