Ethnic specific association of the CAV1/CAV2 locus with primary open-angle glaucoma
Publication in refereed journal

替代計量分析
.

其它資訊
摘要A single-nucleotide polymorphism (SNP) rs4236601 at the CAV1/CAV2 locus is associated with primary open-angle glaucoma (POAG). Rs4236601 is common in Caucasians but rare in East Asians. Here we conducted a haplotype-tagging SNP analysis followed by replication in a total of 848 POAG cases and 1574 controls drawn from 3 cities in China and 1 city in Japan. Two SNPs, rs4236601 (odds ratio [OR] = 6.25; P = 0.0086) and a tagging-SNP rs3801994 (OR = 1.32; P = 0.042), were associated with POAG in the Hong Kong Chinese cohort after age and gender adjustments. Rs4236601 was associated with POAG also in Shantou (OR = 6.09; P = 0.0037) and Beijing (OR = 3.92; P = 0.030) cohorts after age and gender adjustment, with a pooled-OR of 5.26 (P = 9.0 × 10 â'6) in Chinese; but it is non-polymorphic in the Osaka cohort. SNP rs3801994 showed a similar trend of effect in the Shantou and Beijing cohorts, with a pooled-OR of 1.23 (P = 0.022) and 1.20 (P = 0.063) in Chinese, prior to and after age and gender adjustment, respectively; but it showed a reverse effect in the Osaka cohort (OR = 0.58; P = 0.033) after the adjustments. We have thus confirmed the association of rs4236601 with POAG in different Chinese cohorts. Also, we found a common SNP rs3801994 of diverse associations with POAG between Chinese and Japanese.
著者Rong S.S., Chen L.J., Leung C.K.S., Matsushita K., Jia L., Miki A., Chiang S.W.Y., Tam P.O.S., Hashida N., Young A.L., Tsujikawa M., Zhang M., Wang N., Nishida K., Pang C.P.
期刊名稱Scientific Reports
出版年份2016
月份6
日期14
卷號6
出版社Nature Publishing Group
出版地United Kingdom
國際標準期刊號2045-2322
電子國際標準期刊號2045-2322
語言英式英語

上次更新時間 2021-27-01 於 00:39