CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies

abstract: ...The purpose of this study was to confirm previously reported associations of common variants in or near CDC7/TGFBR3 , ZP4 , SRBD1 , ELOVL5 , CAV1/CAV2 , TLR4 , CDKN2B , CDKN2B-AS1 , ATOH7 , PLXDC2 , TMTC2 , SIX1 , and CARD10 , with primary open angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. A total of 437 unrelated subjects from the Barbados Family Study of Open Angle Glaucoma (BFSG), including 272 with POAG and 165 unaffected individuals were included in this study. Eighteen SNPs were genotyped by using the multiplex SNaPshot method. Allelic, genotypic and model-based (dominant, recessive, and additive) associations of the SNPs with POAG were analyzed using Chi-squared tests and logistic regression. SNP rs1063192 (near CDKN2B ) was found to be significantly associated with POAG (allelic P =0.0008, genotypic P =0.0029), and the minor allele C of rs1063192 was protective against POAG (OR =0.39; 95%CI =0.220.69). Suggestive association was also noted for rs7916697 (near ATHO7 , allelic P =0.0096, genotypic P=0.01) with the minor allele being protective (OR =0.67; 95% CI =0.500.91), although this finding did not withstand correction for multiple testing. However, a significant interactive effect on POAG risk was identified between rs1063192 and rs7916697 ( P -interaction =2.8010 5 ). Individuals with the rs1063192 protective genotype CC or CT and also rs7916697 genotypes GG or GA show a significantly decreased risk of POAG (OR=0.17, 95%CI: 0.070.41). Our study confirms the significant association between SNP rs1063192 ( CDKN2B , previously shown to influence vertical cup-to-disc ratio and POAG at 9p21) and POAG in the Afro-Caribbean population of Barbados. The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduce POAG risk. Our results also suggest that rs1063912 is a common protective variant for POAG in populations of African as well as European descent.

...PLoS One PLoS ONE plos plosone PLoS ONE 1932-6203 Public Library of Science San Francisco, USA 22761751 3384655 PONE-D-12-08689 10.1371/journal.pone.0039278 Research Article Biology Computational Biology Population Genetics Genetic Polymorphism Evolutionary Biology Population Genetics Genetic Polymorphism Genetics Heredity Complex Traits Human Genetics Genetic Association Studies Population Genetics Genetic Polymorphism Population Biology Population Genetics Genetic Polymorphism Medicine Ophthalmology Glaucoma Inherited Eye Disorders CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies CDKN2B Associated with POAG in Barbados Cao Dan 1 2 Jiao Xiaodong 1 Liu Xing 2 Hennis Anselm 3 Leske M. Cristina 4 Nemesure Barbara 4 Hejtmancik J. Fielding 1 * 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America 2 State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China 3 Ministry of Health and University of the West Indies, Bridgetown, Barbados 4 Department of Preventive Medicine, Stony Brook Medicine, Stony Brook, New York, United States of America Yu Zhaoxia Editor University of California, Irvine, United States of America * E-mail: f3h@helix.nih.gov Conceived and designed the experiments: DC XJ XL AH CL BN JFH. Performed the experiments: CD XJ. Analyzed the data: CD XJ JFH. Wrote the paper: DC XJ JFH. 2012 27 6 2012 7 6 e39278 26 3 2012 16 5 2012 This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. 2012 The purpose of this study was to confirm previously reported associations of common variants in or near CDC7/TGFBR3 , ZP4 , SRBD1 , ELOVL5 , CAV1/CAV2 , TLR4 , CDKN2B , CDKN2B-AS1 , ATOH7 , PLXDC2 , TMTC2 , SIX1 , and CARD10 , with primary open angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies. A total of 437 unrelated subjects from the Barbados Family Study of Open Angle Glaucoma (BFSG), including 272 with POAG and 165 unaffected individuals were included in this study. Eighteen SNPs were genotyped by using the multiplex SNaPshot method. Allelic, genotypic and model-based (dominant, recessive, and additive

... tetratricopeptide repeat containing 2 ; TMTC2 ) in a Japanese population [17] , but a subsequent replication study in an Indian population did not confirm this finding [41] . We were not able to find significant association to any of these six SNPs (rs547984, rs540782, rs693421, rs2499601, rs7081455 and rs7961953) with POAG in our cohort either ( Table 3 ). We were also unable to replicate the association between SRBD1 , ELOVL5 and TLR4 polymorphisms and POAG in our samples. This might be due to differences in

infinome is an open experiment to study human longevity. Link your 23andMe account for personalized reports.

Gene: TMTC2 - transmembrane and tetratricopeptide repeat containing 2 - (NCBI)

Images from Open Access Papers

Association Studies

Search Results from Open Access Papers