CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies.
CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies.
复制标题
DOI：
10.1371/journal.pone.0039278
复制
发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Hejtmancik JF
中科院分区：
文献类型：
--
作者：
Cao D;Jiao X;Liu X;Hennis A;Leske MC;Nemesure B;Hejtmancik JF
这项研究的目的是确认先前报道的CDC7/TGFBR3、ZP4、SRBD1、ELOVL5、CAV1/CAV2、TLR4、CDKN2B、CDKN2B-AS1、ATOH7、PLXDC2、TMTC2、SIX1和CARD10等常见变异与西印度群岛巴巴多斯非洲裔加勒比人的原发性开角型青光眼(POAG)的相关性。来自巴巴多斯开角型青光眼家族研究(BFSG)的437名无关受试者，包括272名POAG患者和165名未受影响的个体被纳入本研究。采用多重快照方法对18个SNPs进行了基因分型。采用卡方检验和Logistic回归分析SNPs与POAG的等位基因关联、基因关联和基于模型的关联(显性、隐性和加性)。Rs1063192(接近CDKN2B)与POAG显著相关(等位基因P = 0.0008，基因型P = 0.0029)，等位基因C对POAG有保护作用(OR = 为0.39；95%CI = 为0.22−0.69)。也注意到rs7916697(接近ATHO7，等位基因P = 0.0096，基因型P = 0.01)与保护性等位基因(OR = 0.67；95%CI = 0.50−0.91)的关联，尽管这一发现不能经得起多重检验的校正。然而，在rs1063192和rs7916697之间存在显著的交互作用(P-交互作用 = 2.80×10−5)。携带rs1063192保护基因CC或CT和同时携带rs7916697基因GG或GA的个体患POAG的风险显著降低(OR = 为0.17，95%CI：0.07−0.41)。我们的研究证实了在巴巴多斯的非洲裔加勒比人口中，SNP rs1063192(CDKN2B，以前被证明影响垂直杯盘比和9p21的POAG)与POAG存在显著关联。Rs1063192的小等位基因与rs7916697(ATOH7)的小等位基因相互作用，降低了POAG的风险。我们的结果还表明，rs1063912是非洲人和欧洲人后裔中常见的POAG保护性变异体。
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 = 0.22−0.69). 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 = 0.50−0.91), 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 = 2.80×10−5). 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: 0.07−0.41). 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.
登录
查看更多内容
影响因子：
--
作者：
LESKE, MC;CONNELL, AMS;HYMAN, L
通讯作者：
HYMAN, L
影响因子：
--
作者：
LESKE, MC;CONNELL, AMS;GEORGE, TW
通讯作者：
GEORGE, TW
影响因子：
3.5
作者：
Ramdas, Wishal D.;van Koolwijk, Leonieke M. E.;van Duijn, Cornelia M.
通讯作者：
van Duijn, Cornelia M.
影响因子：
5.3
作者：
Nemesure, B;Jiao, XD;Hejtmancik, F
通讯作者：
Hejtmancik, F
影响因子：
4.1
作者：
Quigley, HA;Broman, AT
通讯作者：
Broman, AT