来自北京医科大学的Ningli Wang、新加坡国立大学的Tin Aung及其同事报道了原发性闭角型青光眼(PACG)(全世界性失明的主要原因)的全基因组关联分析结果。他们新鉴定到与PACG相关的3个位点。这是一个具有里程碑意义的研究,其确定了三个闭角型青光眼基因,有助于更好地了解这种致盲性疾病的发病机制。相关的研究论文于8月26日在线发表在《Nature Genetics》期刊上。

-2012年10月《自然-遗传》

中文翻译


【题目】全基因组关联分析新鉴定到3个影响原发性闭角型青光眼的易感位点

【译文】原发性闭角型青光眼(PACG)是造成失明的主要原因。我们对来自亚洲5个样本采集点的1854例PACG患者和9608例正常个体进行了全基因组关联研究(GWAS)。他们对来自另外6个样本采集点的额外1917例PACG患者和8943例正常个体进行了验证性实验。本研究报道了具有显著性关联的3个新位点:PLEKHA7基因上的rs11024102(优势率(OR)=1.22;P=5.33×10−12)、COL11A1基因上的rs3753841(OR=1.20;P=9.22×10−10)和染色体8q上介于PCMTD1ST18基因之间的rs1015213(OR=1.50;P=3.29×10−9)。从来自世界各地的样本中积累的研究结果揭示了PACG发病机理的可能机制。

 英文原稿


[Title]: Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma 

[Authors]: Eranga N Vithana, Chiea-Chuen Khor, Chunyan Qiao, Monisha E Nongpiur, Ronnie George, Li-Jia Chen, Tan Do, Khaled Abu-Amero, Chor Kai Huang, Sancy Low, Liza-Sharmini A Tajudin, Shamira A Perera, Ching-Yu Cheng, Liang Xu, Hongyan Jia, Ching-Lin Ho, Kar Seng Sim, Ren-Yi Wu, Clement C Y Tham, Paul T K Chew, Daniel H Su, Francis T Oen, Sripriya Sarangapani, Nagaswamy Soumittra, Essam A Osman, Hon-Tym Wong, Guangxian Tang, Sujie Fan, Hailin Meng, Dao T L Huong, Hua Wang, Bo Feng, Mani Baskaran, Balekudaru Shantha, Vedam L Ramprasad, Govindasamy Kumaramanickavel, Sudha K Iyengar, Alicia C How, Kelvin Y Lee, Theru A Sivakumaran, Victor H K Yong, Serena M L Ting, Yang Li, Ya-Xing Wang, Wan-Ting Tay, Xueling Sim, Raghavan Lavanya, Belinda K Cornes, Ying-Feng Zheng, Tina T Wong, Seng-Chee Loon, Vernon K Y Yong, Naushin Waseem, Azhany Yaakub, Kee-Seng Chia, R Rand Allingham, Michael A Hauser, Dennis S C Lam, Martin L Hibberd, Shomi S Bhattacharya, Mingzhi Zhang, Yik Ying Teo, Donald T Tan, Jost B Jonas, E-Shyong Tai, Seang-Mei Saw, Do Nhu Hon, Saleh A Al-Obeidan, Jianjun Liu, Tran Nguyen Bich Chau, Cameron P Simmons, Jin-Xin Bei, Yi-Xin Zeng, Paul J Foster, Lingam Vijaya, Tien-Yin Wong, Chi-Pui Pang, Ningli Wang & Tin Aung

[Abstract]: Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR) = 1.22; P = 5.33 × 10−12), rs3753841 in COL11A1 (per-allele OR = 1.20; P = 9.22 × 10−10) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR = 1.50; P = 3.29 × 10−9). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.

原文地址

http://www.nature.com/ng/journal/v44/n10/full/ng.2390.html

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