New loci and coding variants confer risk for age-related macular degeneration in East Asians
Publication in refereed journal

替代計量分析
.

其它資訊
摘要Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10-22). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17mmoll-1 (P=5.82 × 10-21) in East Asians (n=7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala (OR=0.78, P=6.19 × 10-18), SLC44A4 Asp47Val (OR=1.27, P=1.08 × 10-11) and FGD6 Gln257Arg (OR=0.87, P=2.85 × 10-8). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature.
著者Cheng C.-Y., Yamashiro K., Jia Chen L., Ahn J., Huang L., Huang L., Cheung C.M.G., Miyake M., Cackett P.D., Yeo I.Y., Laude A., Mathur R., Pang J., Sim K.S., Koh A.H., Chen P., Lee S.Y., Wong D., Chan C.M., Loh B.K., Sun Y., Davila S., Nakata I., Nakanishi H., Akagi-Kurashige Y., Gotoh N., Tsujikawa A., Matsuda F., Mori K., Yoneya S., Sakurada Y., Iijima H., Iida T., Honda S., Lai T.Y.Y., Tam P.O.S., Chen H., Tang S., Ding X., Wen F., Lu F., Zhang X., Shi Y., Zhao P., Zhao B., Sang J., Gong B., Dorajoo R., Yuan J.-M., Koh W.-P., Van Dam R.M., Friedlander Y., Lin Y., Hibberd M.L., Foo J.N., Wang N., Wong C.H., Tan G.S., Park S.J., Bhargava M., Gopal L., Naing T., Liao J., Guan Ong P., Mitchell P., Zhou P., Xie X., Liang J., Mei J., Jin X., Saw S.-M., Ozaki M., Mizoguchi T., Kurimoto Y., Woo S.J., Chung H., Yu H.-G., Shin J.Y., Park D.H., Kim I.T., Chang W., Sagong M., Lee S.-J., Kim H.W., Lee J.E., Li Y., Liu J., Teo Y.Y., Heng C.K., Lim T.H., Yang S.-K., Song K., Vithana E.N., Aung T., Bei J.X., Zeng Y.X., Tai E.S., Li X.X., Yang Z., Park K.-H., Pang C.P., Yoshimura N., Yin Wong T., Khor C.C.
期刊名稱Nature Communications
出版年份2015
月份1
日期28
卷號6
出版社Nature Publishing Group
出版地United Kingdom
國際標準期刊號2041-1723
語言英式英語

上次更新時間 2021-16-04 於 00:20