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4. A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

Author

Jang, Minwoo Wendy, Oh, Doo-Yi, Yi, Eunyoung, Liu, Xuezhong, Ling, Jie, Kim, Nayoung, Sharma, Kushal, Kim, Tai Young, Lee, Seungmin, Kim, Ah-Reum, Kim, Min Young, Kim, Min-A, Lee, Mingyu, Han, Jin-Hee, Han, Jae Joon, Park, Hye-Rim, Kim, Bong Jik, Lee, Sang-Yeon, Woo, Dong Ho, Oh, Jayoung, Oh, Soo-Jin, Du, Tingting, Koo, Ja-Won, Oh, Seung-Ha, Shin, Hyun-Woo, Seong, Moon-Woo, Lee, Kyu-Yup, Kim, Un-Kyung, Shin, Jung Bum, Sang, Shushan, Cai, Xinzhang, Mei, Lingyun, He, Chufeng, Blanton, Susan H., Chen, Zheng-Yi, Chen, Hongsheng, Liu, Xianlin, Nourbakhsh, Aida, Huang, Zaohua, Kang, Kwon-Woo, Park, Woong-Yang, Feng, Yong, Lee, C. Justin, and Choi, Byung Yoon more...

Published
2021

5. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Author

Chauhan, Ganesh, Adams, Hieab HH, Satizabal, Claudia L, Bis, Joshua C, Teumer, Alexander, Sargurupremraj, Muralidharan, Hofer, Edith, Trompet, Stella, Hilal, Saima, Smith, Albert Vernon, Jian, Xueqiu, Malik, Rainer, Traylor, Matthew, Pulit, Sara L, Amouyel, Philippe, Mazoyer, Bernard, Zhu, Yi-Cheng, Kaffashian, Sara, Schilling, Sabrina, Beecham, Gary W, Montine, Thomas J, Schellenberg, Gerard D, Kjartansson, Olafur, Guðnason, Vilmundur, Knopman, David S, Griswold, Michael E, Windham, B Gwen, Gottesman, Rebecca F, Mosley, Thomas H, Schmidt, Reinhold, Saba, Yasaman, Schmidt, Helena, Takeuchi, Fumihiko, Yamaguchi, Shuhei, Nabika, Toru, Kato, Norihiro, Rajan, Kumar B, Aggarwal, Neelum T, De Jager, Philip L, Evans, Denis A, Psaty, Bruce M, Rotter, Jerome I, Rice, Kenneth, Lopez, Oscar L, Liao, Jiemin, Chen, Christopher, Cheng, Ching-Yu, Wong, Tien Y, Ikram, Mohammad K, van der Lee, Sven J, Amin, Najaf, Chouraki, Vincent, DeStefano, Anita L, Aparicio, Hugo J, Romero, Jose R, Maillard, Pauline, DeCarli, Charles, Wardlaw, Joanna M, del C. Valdés Hernández, Maria, Luciano, Michelle, Liewald, David, Deary, Ian J, Starr, John M, Bastin, Mark E, Maniega, Susana Muñoz, Slagboom, P Eline, Beekman, Marian, Deelen, Joris, Uh, Hae-Won, Lemmens, Robin, Brodaty, Henry, Wright, Margaret J, Ames, David, Boncoraglio, Giorgio B, Hopewell, Jemma C, Beecham, Ashley H, Blanton, Susan H, Wright, Clinton B, Sacco, Ralph L, Wen, Wei, Thalamuthu, Anbupalam, Armstrong, Nicola J, Chong, Elizabeth, Schofield, Peter R, Kwok, John B, van der Grond, Jeroen, Stott, David J, Ford, Ian, Jukema, J Wouter, Vernooij, Meike W, Hofman, Albert, Uitterlinden, André G, van der Lugt, Aad, Wittfeld, Katharina, Grabe, Hans J, Hosten, Norbert, von Sarnowski, Bettina, Völker, Uwe, Levi, Christopher, and Jimenez-Conde, Jordi more...

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Stroke, Genetics, Human Genome, Prevention, Brain Disorders, Cardiovascular, Aging, Cerebrovascular, 2.1 Biological and endogenous factors, Good Health and Well Being, Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts.MethodsWe performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI.ResultsThe mean prevalence was 17.7% for BI and 10.5% for SSBI, steeply rising after age 65. Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 × 10-8; and LINC00539/ZDHHC20, p = 5.82 × 10-9. Both have been associated with blood pressure (BP)-related phenotypes, but did not replicate in the smaller follow-up sample or show associations with related phenotypes. Age- and sex-adjusted associations with BI and SSBI were observed for BP traits (p value for BI, p [BI] = 9.38 × 10-25; p [SSBI] = 5.23 × 10-14 for hypertension), smoking (p [BI] = 4.4 × 10-10; p [SSBI] = 1.2 × 10-4), diabetes (p [BI] = 1.7 × 10-8; p [SSBI] = 2.8 × 10-3), previous cardiovascular disease (p [BI] = 1.0 × 10-18; p [SSBI] = 2.3 × 10-7), stroke (p [BI] = 3.9 × 10-69; p [SSBI] = 3.2 × 10-24), and MRI-defined white matter hyperintensity burden (p [BI] = 1.43 × 10-157; p [SSBI] = 3.16 × 10-106), but not with body mass index or cholesterol. GRS of BP traits were associated with BI and SSBI (p ≤ 0.0022), without indication of directional pleiotropy.ConclusionIn this multiethnic GWAS meta-analysis, including over 20,000 population-based participants, we identified genetic risk loci for BI requiring validation once additional large datasets become available. High BP, including genetically determined, was the most significant modifiable, causal risk factor for BI. more...

Published
2019

6. Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Author

Morris, Andrew P, Le, Thu H, Wu, Haojia, Akbarov, Artur, van der Most, Peter J, Hemani, Gibran, Smith, George Davey, Mahajan, Anubha, Gaulton, Kyle J, Nadkarni, Girish N, Valladares-Salgado, Adan, Wacher-Rodarte, Niels, Mychaleckyj, Josyf C, Dueker, Nicole D, Guo, Xiuqing, Hai, Yang, Haessler, Jeffrey, Kamatani, Yoichiro, Stilp, Adrienne M, Zhu, Gu, Cook, James P, Ärnlöv, Johan, Blanton, Susan H, de Borst, Martin H, Bottinger, Erwin P, Buchanan, Thomas A, Cechova, Sylvia, Charchar, Fadi J, Chu, Pei-Lun, Damman, Jeffrey, Eales, James, Gharavi, Ali G, Giedraitis, Vilmantas, Heath, Andrew C, Ipp, Eli, Kiryluk, Krzysztof, Kramer, Holly J, Kubo, Michiaki, Larsson, Anders, Lindgren, Cecilia M, Lu, Yingchang, Madden, Pamela AF, Montgomery, Grant W, Papanicolaou, George J, Raffel, Leslie J, Sacco, Ralph L, Sanchez, Elena, Stark, Holger, Sundstrom, Johan, Taylor, Kent D, Xiang, Anny H, Zivkovic, Aleksandra, Lind, Lars, Ingelsson, Erik, Martin, Nicholas G, Whitfield, John B, Cai, Jianwen, Laurie, Cathy C, Okada, Yukinori, Matsuda, Koichi, Kooperberg, Charles, Chen, Yii-Der Ida, Rundek, Tatjana, Rich, Stephen S, Loos, Ruth JF, Parra, Esteban J, Cruz, Miguel, Rotter, Jerome I, Snieder, Harold, Tomaszewski, Maciej, Humphreys, Benjamin D, and Franceschini, Nora more...

Subjects
Kidney, Humans, Kidney Calculi, Hypertension, Histones, Glomerular Filtration Rate, Histone Code, Blood Pressure, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, Ethnic Groups, Female, Male, Renal Insufficiency, Chronic, Genome-Wide Association Study, Genetic Loci, Polymorphism, Single Nucleotide, Renal Insufficiency, Chronic
Abstract

Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development. more...

Published
2019

8. Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities

Author

Beecham, Ashley, Dong, Chuanhui, Wright, Clinton B, Dueker, Nicole, Brickman, Adam M, Wang, Liyong, DeCarli, Charles, Blanton, Susan H, Rundek, Tatjana, Mayeux, Richard, and Sacco, Ralph L

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Minority Health, Aging, Human Genome, 2.1 Biological and endogenous factors, Good Health and Well Being, Neurosciences, Clinical sciences
Abstract

ObjectiveTo investigate genetic variants influencing white matter hyperintensities (WMHs) in the understudied Hispanic population.MethodsUsing 6.8 million single nucleotide polymorphisms (SNPs), we conducted a genome-wide association study (GWAS) to identify SNPs associated with WMH volume (WMHV) in 922 Hispanics who underwent brain MRI as a cross-section of 2 community-based cohorts in the Northern Manhattan Study and the Washington Heights-Inwood Columbia Aging Project. Multiple linear modeling with PLINK was performed to examine the additive genetic effects on ln(WMHV) after controlling for age, sex, total intracranial volume, and principal components of ancestry. Gene-based tests of association were performed using VEGAS. Replication was performed in independent samples of Europeans, African Americans, and Asians.ResultsFrom the SNP analysis, a total of 17 independent SNPs in 7 genes had suggestive evidence of association with WMHV in Hispanics (p < 1 × 10-5) and 5 genes from the gene-based analysis with p < 1 × 10-3. One SNP (rs9957475 in GATA6) and 1 gene (UBE2C) demonstrated evidence of association (p < 0.05) in the African American sample. Four SNPs with p < 1 × 10-5 were shown to affect binding of SPI1 using RegulomeDB.ConclusionsThis GWAS of 2 community-based Hispanic cohorts revealed several novel WMH-associated genetic variants. Further replication is needed in independent Hispanic samples to validate these suggestive associations, and fine mapping is needed to pinpoint causal variants. more...

Published
2017

10. Novel genetic loci associated with hippocampal volume.

Author

Hibar, Derrek P, Adams, Hieab HH, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher RK, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David CM, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, and Teumer, Alexander more...

Subjects
Hippocampus, Humans, Alzheimer Disease, Genetic Predisposition to Disease, Protein-Serine-Threonine Kinases, Glycoproteins, Microtubule-Associated Proteins, Nerve Tissue Proteins, Organ Size, Cohort Studies, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Genome-Wide Association Study, Young Adult, Methionine Sulfoxide Reductases, Genetic Loci, Dipeptidyl Peptidase 4, Human Genome, Aging, Brain Disorders, Clinical Research, Acquired Cognitive Impairment, Neurodegenerative, Dementia, Neurosciences, Prevention, Genetics, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Mental Health, 2.1 Biological and endogenous factors, Mental health, Neurological
Abstract

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg=-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness. more...

Published
2017

11. Novel genetic loci underlying human intracranial volume identified through genome-wide association

Author

Adams, Hieab HH, Hibar, Derrek P, Chouraki, Vincent, Stein, Jason L, Nyquist, Paul A, Rentería, Miguel E, Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivières, Sylvane, Beecham, Ashley H, Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C, Blanken, Laura ME, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, Braber, Anouk Den, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Greven, Corina U, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K, Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liao, Jiemin, Liewald, David CM, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, Mazoyer, Bernard, McKay, David R, McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L, Maniega, Susana Muñoz, Nho, Kwangsik, Nugent, Allison C, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Pütz, Benno, Rajan, Kumar B, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, and Satizabal, Claudia L more...

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Genetics, Aging, Clinical Research, Biotechnology, Neurodegenerative, Brain Disorders, Human Genome, Prevention, 2.1 Biological and endogenous factors, Brain, Cognition, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Oncogene Protein v-akt, Parkinson Disease, Phenotype, Phosphatidylinositol 3-Kinases, Polymorphism, Single Nucleotide, White People, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits. more...

Published
2016

12. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Author

Yan, Denise, Tekin, Demet, Bademci, Guney, Foster, Joseph, Cengiz, F Basak, Kannan-Sundhari, Abhiraami, Guo, Shengru, Mittal, Rahul, Zou, Bing, Grati, Mhamed, Kabahuma, Rosemary I, Kameswaran, Mohan, Lasisi, Taye J, Adedeji, Waheed A, Lasisi, Akeem O, Menendez, Ibis, Herrera, Marianna, Carranza, Claudia, Maroofian, Reza, Crosby, Andrew H, Bensaid, Mariem, Masmoudi, Saber, Behnam, Mahdiyeh, Mojarrad, Majid, Feng, Yong, Duman, Duygu, Mawla, Alex M, Nord, Alex S, Blanton, Susan H, Liu, Xue Z, and Tekin, Mustafa more...

Subjects
Brain Disorders, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Deafness, Ethnicity, Female, Genetic Testing, Genetics, Population, Humans, Male, Mutation, Usher Syndromes, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity
Abstract

Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity. more...

Published
2016

14. Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI

Author

Verhaaren, Benjamin FJ, Debette, Stéphanie, Bis, Joshua C, Smith, Jennifer A, Ikram, M Kamran, Adams, Hieab H, Beecham, Ashley H, Rajan, Kumar B, Lopez, Lorna M, Barral, Sandra, van Buchem, Mark A, van der Grond, Jeroen, Smith, Albert V, Hegenscheid, Katrin, Aggarwal, Neelum T, de Andrade, Mariza, Atkinson, Elizabeth J, Beekman, Marian, Beiser, Alexa S, Blanton, Susan H, Boerwinkle, Eric, Brickman, Adam M, Bryan, R Nick, Chauhan, Ganesh, Chen, Christopher PLH, Chouraki, Vincent, de Craen, Anton JM, Crivello, Fabrice, Deary, Ian J, Deelen, Joris, De Jager, Philip L, Dufouil, Carole, Elkind, Mitchell SV, Evans, Denis A, Freudenberger, Paul, Gottesman, Rebecca F, Guðnason, Vilmundur, Habes, Mohamad, Heckbert, Susan R, Heiss, Gerardo, Hilal, Saima, Hofer, Edith, Hofman, Albert, Ibrahim-Verbaas, Carla A, Knopman, David S, Lewis, Cora E, Liao, Jiemin, Liewald, David CM, Luciano, Michelle, van der Lugt, Aad, Martinez, Oliver O, Mayeux, Richard, Mazoyer, Bernard, Nalls, Mike, Nauck, Matthias, Niessen, Wiro J, Oostra, Ben A, Psaty, Bruce M, Rice, Kenneth M, Rotter, Jerome I, von Sarnowski, Bettina, Schmidt, Helena, Schreiner, Pamela J, Schuur, Maaike, Sidney, Stephen S, Sigurdsson, Sigurdur, Slagboom, P Eline, Stott, David JM, van Swieten, John C, Teumer, Alexander, Töglhofer, Anna Maria, Traylor, Matthew, Trompet, Stella, Turner, Stephen T, Tzourio, Christophe, Uh, Hae-Won, Uitterlinden, André G, Vernooij, Meike W, Wang, Jing J, Wong, Tien Y, Wardlaw, Joanna M, Windham, B Gwen, Wittfeld, Katharina, Wolf, Christiane, Wright, Clinton B, Yang, Qiong, Zhao, Wei, Zijdenbos, Alex, Jukema, J Wouter, Sacco, Ralph L, Kardia, Sharon LR, Amouyel, Philippe, Mosley, Thomas H, Longstreth, WT, DeCarli, Charles C, van Duijn, Cornelia M, Schmidt, Reinhold, Launer, Lenore J, Grabe, Hans J, and Seshadri, Sudha S more...

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Acquired Cognitive Impairment, Stroke, Neurosciences, Aging, Dementia, Genetics, Neurodegenerative, Cerebrovascular, Human Genome, Prevention, Clinical Research, Brain Disorders, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease Related Dementias (ADRD), Vascular Cognitive Impairment/Dementia, 2.1 Biological and endogenous factors, Aged, Aged, 80 and over, Chromosomes, Human, Female, Genetic Loci, Genome-Wide Association Study, Humans, Male, Meta-Analysis as Topic, Middle Aged, Models, Genetic, Racial Groups, White Matter, cerebral small vessel diseases, cerebrovascular disorders, genome-wide association study, hypertension, leukoencephalopathies, polymorphisms, single nucleotide, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology
Abstract

BackgroundThe burden of cerebral white matter hyperintensities (WMH) is associated with an increased risk of stroke, dementia, and death. WMH are highly heritable, but their genetic underpinnings are incompletely characterized. To identify novel genetic variants influencing WMH burden, we conducted a meta-analysis of multiethnic genome-wide association studies.Methods and resultsWe included 21 079 middle-aged to elderly individuals from 29 population-based cohorts, who were free of dementia and stroke and were of European (n=17 936), African (n=1943), Hispanic (n=795), and Asian (n=405) descent. WMH burden was quantified on MRI either by a validated automated segmentation method or a validated visual grading scale. Genotype data in each study were imputed to the 1000 Genomes reference. Within each ethnic group, we investigated the relationship between each single-nucleotide polymorphism and WMH burden using a linear regression model adjusted for age, sex, intracranial volume, and principal components of ancestry. A meta-analysis was conducted for each ethnicity separately and for the combined sample. In the European descent samples, we confirmed a previously known locus on chr17q25 (P=2.7×10(-19)) and identified novel loci on chr10q24 (P=1.6×10(-9)) and chr2p21 (P=4.4×10(-8)). In the multiethnic meta-analysis, we identified 2 additional loci, on chr1q22 (P=2.0×10(-8)) and chr2p16 (P=1.5×10(-8)). The novel loci contained genes that have been implicated in Alzheimer disease (chr2p21 and chr10q24), intracerebral hemorrhage (chr1q22), neuroinflammatory diseases (chr2p21), and glioma (chr10q24 and chr2p16).ConclusionsWe identified 4 novel genetic loci that implicate inflammatory and glial proliferative pathways in the development of WMH in addition to previously proposed ischemic mechanisms. more...

Published
2015

20. Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Author

Cengiz, Filiz Basak, Yilmazer, Rasim, Olgun, Levent, Sennaroglu, Levent, Kirazli, Tayfun, Alper, Hudaver, Olgun, Yuksel, Incesulu, Armagan, Atik, Tahir, Huesca-Hernandez, Fabiola, Domínguez-Aburto, Juan, González-Rosado, Garly, Hernandez-Zamora, Edgar, Arenas-Sordo, Maria de la Luz, Menendez, Ibis, Orhan, Kadir Serkan, Avci, Hakan, Mahdieh, Nejat, Bonyadi, Mortaza, Foster, Joseph, II, Duman, Duygu, Ozkinay, Ferda, Blanton, Susan H., Bademci, Guney, and Tekin, Mustafa more...

Published
2017
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23. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Author

Daiger, Stephen P., Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Blanton, Susan H., Wheaton, Dianna K., Avery, Cheryl E., Cadena, Elizabeth D., Koenekoop, Robert K., Fulton, Robert S., Wilson, Richard K., Weinstock, George M., Lewis, Richard A., Birch, David G., Bowes Rickman, Catherine, editor, LaVail, Matthew M., editor, Anderson, Robert E., editor, Grimm, Christian, editor, Hollyfield, Joe, editor, and Ash, John, editor more...

Published
2016
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26. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Author

Bademci, Guney, Abad, Clemer, Incesulu, Armagan, Rad, Abolfazl, Alper, Ozgul, Kolb, Susanne M., Cengiz, Filiz B., Diaz-Horta, Oscar, Silan, Fatma, Mihci, Ercan, Ocak, Emre, Najafi, Maryam, Maroofian, Reza, Yilmaz, Elanur, Nur, Banu G., Duman, Duygu, Guo, Shengru, Sant, David W., Wang, Gaofeng, Monje, Paula V., Haaf, Thomas, Blanton, Susan H., Vona, Barbara, Walz, Katherina, and Tekin, Mustafa more...

Published
2018
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28. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

Author

Leslie, Elizabeth J., Liu, Huan, Carlson, Jenna C., Shaffer, John R., Feingold, Eleanor, Wehby, George, Laurie, Cecelia A., Jain, Deepti, Laurie, Cathy C., Doheny, Kimberly F., McHenry, Toby, Resick, Judith, Sanchez, Carla, Jacobs, Jennifer, Emanuele, Beth, Vieira, Alexandre R., Neiswanger, Katherine, Standley, Jennifer, Czeizel, Andrew E., Deleyiannis, Frederic, Christensen, Kaare, Munger, Ronald G., Lie, Rolv T., Wilcox, Allen, Romitti, Paul A., Field, L. Leigh, Padilla, Carmencita D., Cutiongco-de la Paz, Eva Maria C., Lidral, Andrew C., Valencia-Ramirez, Luz Consuelo, Lopez-Palacio, Ana Maria, Valencia, Dora Rivera, Arcos-Burgos, Mauricio, Castilla, Eduardo E., Mereb, Juan C., Poletta, Fernando A., Orioli, Iêda M., Carvalho, Flavia M., Hecht, Jacqueline T., Blanton, Susan H., Buxó, Carmen J., Butali, Azeez, Mossey, Peter A., Adeyemo, Wasiu L., James, Olutayo, Braimah, Ramat O., Aregbesola, Babatunde S., Eshete, Mekonen A., Deribew, Milliard, Koruyucu, Mine, Seymen, Figen, Ma, Lian, de Salamanca, Javier Enríquez, Weinberg, Seth M., Moreno, Lina, Cornell, Robert A., Murray, Jeffrey C., and Marazita, Mary L. more...

Published
2016
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29. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Author

Bademci, Guney, Foster, Joseph, II, Mahdieh, Nejat, Bonyadi, Mortaza, Duman, Duygu, Cengiz, F.Basak, Menendez, Ibis, Diaz-Horta, Oscar, Shirkavand, Atefeh, Zeinali, Sirous, Subasioglu, Asli, Tokgoz-Yilmaz, Suna, Huesca-Hernandez, Fabiola, de la Luz Arenas-Sordo, Maria, Dominguez-Aburto, Juan, Hernandez-Zamora, Edgar, Montenegro, Paola, Paredes, Rosario, Moreta, Germania, Vinueza, Rodrigo, Villegas, Franklin, Mendoza-Benitez, Santiago, Guo, Shengru, Bozan, Nazim, Tos, Tulay, Incesulu, Armagan, Sennaroglu, Gonca, Blanton, Susan H., Ozturkmen-Akay, Hatice, Yildirim-Baylan, Muzeyyen, and Tekin, Mustafa more...

Published
2016
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31. Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study

Author

Pulit, Sara L, McArdle, Patrick F, Wong, Quenna, Malik, Rainer, Gwinn, Katrina, Achterberg, Sefanja, Algra, Ale, Amouyel, Philippe, Anderson, Christopher D, Arnett, Donna K, Arsava, Ethem Murat, Attia, John, Ay, Hakan, Bartz, Traci M, Battey, Thomas, Benavente, Oscar R, Bevan, Steve, Biffi, Alessandro, Bis, Joshua C, Blanton, Susan H, Boncoraglio, Giorgio B, Brown, Robert D, Jr, Burgess, Annette I, Carrera, Caty, Chapman Smith, Sherita N, Chasman, Daniel I, Chauhan, Ganesh, Chen, Wei-Min, Cheng, Yu-Ching, Chong, Michael, Cloonan, Lisa K, Cole, John W, Cotlarciuc, Ioana, Cruchaga, Carlos, Cuadrado-Godia, Elisa, Dave, Tushar, Dawson, Jesse, Debette, Stéphanie, Delavaran, Hossein, Dell, Cameron A, Dichgans, Martin, Doheny, Kimberly F, Dong, Chuanhui, Duggan, David J, Engström, Gunnar, Evans, Michele K, Pallejà, Xavier Estivill, Faul, Jessica D, Fernández-Cadenas, Israel, Fornage, Myriam, Frossard, Philippe M, Furie, Karen, Gamble, Dale M, Gieger, Christian, Giese, Anne-Katrin, Giralt-Steinhauer, Eva, González, Hector M, Goris, An, Gretarsdottir, Solveig, Grewal, Raji P, Grittner, Ulrike, Gustafsson, Stefan, Han, Buhm, Hankey, Graeme J, Heitsch, Laura, Higgins, Peter, Hochberg, Marc C, Holliday, Elizabeth, Hopewell, Jemma C, Horenstein, Richard B, Howard, George, Ikram, M Arfan, Ilinca, Andreea, Ingelsson, Erik, Irvin, Marguerite R, Jackson, Rebecca D, Jern, Christina, Conde, Jordi Jiménez, Johnson, Julie A, Jood, Katarina, Kahn, Muhammad S, Kaplan, Robert, Kappelle, L Jaap, Kardia, Sharon L R, Keene, Keith L, Kissela, Brett M, Kleindorfer, Dawn O, Koblar, Simon, Labovitz, Daniel, Launer, Lenore J, Laurie, Cathy C, Laurie, Cecelia A, Lee, Cue Hyunkyu, Lee, Jin-Moo, Lehm, Manuel, Lemmens, Robin, Levi, Christopher, Leys, Didier, Lindgren, Arne, Longstreth, W T, Jr, Maguire, Jane, Manichaikul, Ani, Markus, Hugh S, McClure, Leslie A, McDonough, Caitrin W, Meisinger, Christa, Melander, Olle, Meschia, James F, Mola-Caminal, Marina, Montaner, Joan, Mosley, Thomas H, Müller-Nurasyid, Martina, Nalls, Mike A, O'Connell, Jeffrey R, O'Donnell, Martin, Ois, ángel, Papanicolaou, George J, Paré, Guillaume, Peddareddygari, Leema Reddy, Pedersén, Annie, Pera, Joanna, Peters, Annette, Poole, Deborah, Psaty, Bruce M, Rabionet, Raquel, Raffeld, Miriam R, Rannikmäe, Kristiina, Rasheed, Asif, Redfors, Petra, Reiner, Alex P, Rexrode, Kathryn, Ribasés, Marta, Rich, Stephen S, Robberecht, Wim, Rodriguez-Campello, Ana, Rolfs, Arndt, Roquer, Jaume, Rose, Lynda M, Rosenbaum, Daniel, Rost, Natalia S, Rothwell, Peter M, Rundek, Tatjana, Ryan, Kathleen A, Sacco, Ralph L, Sale, Michèle M, Saleheen, Danish, Salomaa, Veikko, Sánchez-Mora, Cristina, Schmidt, Carsten Oliver, Schmidt, Helena, Schmidt, Reinhold, Schürks, Markus, Scott, Rodney, Segal, Helen C, Seiler, Stephan, Seshadri, Sudha, Sharma, Pankaj, Shuldiner, Alan R, Silver, Brian, Slowik, Agnieszka, Smith, Jennifer A, Söderholm, Martin, Soriano, Carolina, Sparks, Mary J, Stanne, Tara, Stefansson, Kari, Stine, O Colin, Strauch, Konstantin, Sturm, Jonathan, Sudlow, Cathie LM, Tajuddin, Salman M, Talbert, Robert L, Tatlisumak, Turgut, Thijs, Vincent, Thorleifsson, Gudmar, Thorsteindottir, Unnur, Tiedt, Steffen, Traylor, Matthew, Trompet, Stella, Valant, Valerie, Waldenberger, Melanie, Walters, Matthew, Wang, Liyong, Wassertheil-Smoller, Sylvia, Weir, David R, Wiggins, Kerri L, Williams, Stephen R, Wloch-Kopec, Dorota, Woo, Daniel, Woodfield, Rebecca, Wu, Ona, Xu, Huichun, Zonderman, Alan B, Worrall, Bradford B, de Bakker, Paul IW, Kittner, Steven J, Mitchell, Braxton D, Rosand, Jonathan, Sudlow, Cathie L M, Worrall, Bradford B Worrall, Arnett, Donna K Arnett, Benavente, Oscar, and Wasssertheil-Smoller, Sylvia more...

Published
2016
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34. Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Author

Daiger, Stephen P., Bowne, Sara J., Sullivan, Lori S., Blanton, Susan H., Weinstock, George M., Koboldt, Daniel C., Fulton, Robert S., Larsen, David, Humphries, Peter, Humphries, Marian M., Pierce, Eric A., Chen, Rui, Li, Yumei, Lambris, John D., Series editor, Ash, John D., editor, Grimm, Christian, editor, Hollyfield, Joe G., editor, Anderson, Robert E., editor, LaVail, Matthew M., editor, and Bowes Rickman, Catherine, editor more...

Published
2014
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45. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Author

Daiger, Stephen P., primary, Sullivan, Lori S., additional, Bowne, Sara J., additional, Koboldt, Daniel C., additional, Blanton, Susan H., additional, Wheaton, Dianna K., additional, Avery, Cheryl E., additional, Cadena, Elizabeth D., additional, Koenekoop, Robert K., additional, Fulton, Robert S., additional, Wilson, Richard K., additional, Weinstock, George M., additional, Lewis, Richard A., additional, and Birch, David G., additional more...

Published
2015
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