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


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 0.17 mmol l 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 CY, Yamashiro K, Chen LJ, Ahn J, Huang LL, Huang LZ, Cheung CMG, Miyake M, Cackett PD, Yeo IY, Laude A, Mathur R, Pang JX, Sim KS, Koh AH, Chen P, Lee SY, Wong D, Chan CM, Loh BK, Sun YY, 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 TYY, Tam POS, Chen H, Tang S, Ding XY, Wen F, Lu F, Zhang XZ, Shi Y, Zhao PQ, Zhao BW, Sang JH, Gong B, Dorajoo R, Yuan JM, Koh WP, van Dam RM, Friedlander Y, Lin Y, Hibberd ML, Foo JN, Wang NL, Wong CH, Tan GS, Park SJ, Bhargava M, Gopal L, Naing T, Liao JM, Ong PG, Mitchell P, Zhou P, Xie XF, Liang JL, Mei JP, Jin X, Saw SM, Ozaki M, Mizoguchi T, Kurimoto Y, Woo SJ, Chung H, Yu HG, Shin JY, Park DH, Kim IT, Chang W, Sagong M, Lee SJ, Kim HW, Lee JE, Li Y, Liu JJ, Teo YY, Heng CK, Lim TH, Yang SK, Song K, Vithana EN, Aung T, Bei JX, Zeng YX, Tai ES, Li XX, Yang ZL, Park KH, Pang CP, Yoshimura N, Wong TY, Khor CC
期刊名稱Nature Communications
Web of Science 學科類別Multidisciplinary Sciences; Science & Technology - Other Topics

上次更新時間 2021-18-01 於 00:14