The genetics of POAG in black South Africans: a candidate gene association study.
The genetics of POAG in black South Africans: a candidate gene association study.
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DOI：
10.1038/srep08378
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发表时间：
2015-02-11
影响因子：
4.6
通讯作者：
Ramsay M
中科院分区：
文献类型：
--
作者：
Williams SE;Carmichael TR;Allingham RR;Hauser M;Ramsay M
多个基因座与原发性开角型青光眼（POAG）或与此相关的遗传性眼部数量性状相关。本研究在一组南非黑人（215例POAG病例和214例对照）中检测了这些位点与POAG、中央角膜厚度（CCT）、垂直杯盘比（VCDR）和糖尿病的相关性。人口是同质的，不同于其他非洲和欧洲人口。MYOC、COL 8A 2、COL 1A 1和ZNF 469基因区域的单核苷酸多态性与原发性开角型青光眼的发病关系不大。在TMCO 1、CAV 1/CAV 2、CYP 1B 1、COL 1A 2、COL 5A 1、CDKN 2B/CDKN 2BAS-1、SIX 1/SIX 6或染色体2 p16区域标记SNPs与POAG无关联，与CCT或VCDR无关联。然而，WDR 36中的SNP rs 12522383与糖尿病相关（p = 0.00008）。因此，这项首次在南非黑人中进行的POAG遗传关联研究确定了需要在该人群和其他人群中进行额外调查以确定其重要性的关联。这突出表明，如果我们要实现促进早期POAG检测并最终预防这种情况导致的不可逆性失明的目标，就需要在这一人群中进行更大规模的研究。
Multiple loci have been associated with either primary open angle glaucoma (POAG) or heritable ocular quantitative traits associated with this condition. This study examined the association of these loci with POAG, with central corneal thickness (CCT), vertical cup-to-disc ratio (VCDR) and with diabetes mellitus in a group of black South Africans (215 POAG cases and 214 controls). The population was homogeneous and distinct from other African and European populations. Single SNPs in the MYOC, COL8A2, COL1A1 and ZNF469 gene regions showed marginal associations with POAG. No association with POAG was identified with tagging SNPs in TMCO1, CAV1/CAV2, CYP1B1, COL1A2, COL5A1, CDKN2B/CDKN2BAS-1, SIX1/SIX6 or the chromosome 2p16 regions and there were no associations with CCT or VCDR. However, SNP rs12522383 in WDR36 was associated with diabetes mellitus (p = 0.00008). This first POAG genetic association study in black South Africans has therefore identified associations that require additional investigation in this and other populations to determine their significance. This highlights the need for larger studies in this population if we are to achieve the goal of facilitating early POAG detection and ultimately preventing irreversible blindness from this condition.
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影响因子：
30.8
作者：
de Bakker, PIW;Yelensky, R;Altshuler, D
通讯作者：
Altshuler, D
影响因子：
4
作者：
Mackey, David A.
通讯作者：
Mackey, David A.
影响因子：
13.7
作者：
Chopra, Vikas;Varma, Rohit;Azen, Stanley P.
通讯作者：
Azen, Stanley P.
DOI：
10.1073/pnas.1017511108
发表时间：
2011-03-29
影响因子：
11.1
作者：
Henn, Brenna M.;Gignoux, Christopher R.;Feldman, Marcus W.
通讯作者：
Feldman, Marcus W.
影响因子：
7.1
作者：
Levitt, Naomi S.;Steyn, Krisela;Bradshaw, Debbie
通讯作者：
Bradshaw, Debbie