Unknown

Dataset Information

0

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


ABSTRACT: 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.

SUBMITTER: Cheng CY 

PROVIDER: S-EPMC4317498 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Cheng Ching-Yu CY   Yamashiro Kenji K   Chen Li Jia LJ   Ahn Jeeyun J   Huang Lulin L   Huang Lvzhen L   Cheung Chui Ming G CM   Miyake Masahiro M   Cackett Peter D PD   Yeo Ian Y IY   Laude Augustinus A   Mathur Ranjana R   Pang Junxiong J   Sim Kar Seng KS   Koh Adrian H AH   Chen Peng P   Lee Shu Yen SY   Wong Doric D   Chan Choi Mun CM   Loh Boon Kwang BK   Sun Yaoyao Y   Davila Sonia S   Nakata Isao I   Nakanishi Hideo H   Akagi-Kurashige Yumiko Y   Gotoh Norimoto N   Tsujikawa Akitaka A   Matsuda Fumihiko F   Mori Keisuke K   Yoneya Shin S   Sakurada Yoichi Y   Iijima Hiroyuki H   Iida Tomohiro T   Honda Shigeru S   Lai Timothy Yuk Yau TY   Tam Pancy Oi Sin PO   Chen Haoyu H   Tang Shibo S   Ding Xiaoyan X   Wen Feng F   Lu Fang F   Zhang Xiongze X   Shi Yi Y   Zhao Peiquan P   Zhao Bowen B   Sang Jinghong J   Gong Bo B   Dorajoo Rajkumar R   Yuan Jian-Min JM   Koh Woon-Puay WP   van Dam Rob M RM   Friedlander Yechiel Y   Lin Ying Y   Hibberd Martin L ML   Foo Jia Nee JN   Wang Ningli N   Wong Chang Hua CH   Tan Gavin S GS   Park Sang Jun SJ   Bhargava Mayuri M   Gopal Lingam L   Naing Thet T   Liao Jiemin J   Ong Peng Guan PG   Mitchell Paul P   Zhou Peng P   Xie Xuefeng X   Liang Jinlong J   Mei Junpu J   Jin Xin X   Saw Seang-Mei SM   Ozaki Mineo M   Mizoguchi Takanori T   Kurimoto Yasuo Y   Woo Se Joon SJ   Chung Hum H   Yu Hyeong-Gon HG   Shin Joo Young JY   Park Dong Ho DH   Kim In Taek IT   Chang Woohyok W   Sagong Min M   Lee Sang-Joon SJ   Kim Hyun Woong HW   Lee Ji Eun JE   Li Yi Y   Liu Jianjun J   Teo Yik Ying YY   Heng Chew Kiat CK   Lim Tock Han TH   Yang Suk-Kyun SK   Song Kyuyoung K   Vithana Eranga N EN   Aung Tin T   Bei Jin Xin JX   Zeng Yi Xin YX   Tai E Shyong ES   Li Xiao Xin XX   Yang Zhenglin Z   Park Kyu-Hyung KH   Pang Chi Pui CP   Yoshimura Nagahisa N   Wong Tien Yin TY   Khor Chiea Chuen CC  

Nature communications 20150128


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 in  ...[more]

Similar Datasets

| S-EPMC5070898 | biostudies-literature
| S-EPMC4186733 | biostudies-literature
| S-EPMC7390936 | biostudies-literature
| S-EPMC3739472 | biostudies-literature
| S-EPMC6745026 | biostudies-literature
| S-EPMC8222216 | biostudies-literature
| S-EPMC2867722 | biostudies-literature
| S-EPMC3102591 | biostudies-literature
2011-03-22 | E-GEOD-28033 | biostudies-arrayexpress
| S-EPMC6358913 | biostudies-other