2012年9月2日 訊 /生物谷BIOON/ --新加坡科學(xué)家們近日發(fā)現(xiàn)與原發(fā)性閉角型青光眼(PACG)相關(guān)的三個(gè)新基因,。原發(fā)性閉角型青光眼會(huì)影響全球15億人,其中80%患者生活在亞洲。
這項(xiàng)研究發(fā)表在著名科學(xué)雜志Nature Genetics上,,新加坡眼科研究所(SERI)/新加坡全國(guó)眼科中心(SNEC)、新加坡基因組研究院(GIS),、新加坡國(guó)立大學(xué)(NUS),、新加坡國(guó)立大學(xué)醫(yī)院和陳篤生醫(yī)院眼科部共同合作完成研究。
研究小組科學(xué)家領(lǐng)導(dǎo)對(duì)來(lái)自亞洲的1854例PACG患者和9,608例健康志愿者進(jìn)行了全基因組關(guān)聯(lián)研究(GWAS),。他們對(duì)另外1,917原發(fā)性閉角型青光眼患和8,943志愿者進(jìn)行了驗(yàn)證性實(shí)驗(yàn),,其中總共有1,293例原發(fā)性閉角型青光眼新加坡患者和8025名新加坡健康志愿者參加了這項(xiàng)研究。這項(xiàng)工作是首次從全基因組的角度來(lái)研究原發(fā)性閉角型青光眼的遺傳學(xué)機(jī)制,。
該研究為證明遺傳因素在原發(fā)性閉角型青光眼的發(fā)病中發(fā)揮作用提供了充足的證據(jù),,這項(xiàng)研究結(jié)果可能有助于新的治療方法的誕生。
哈佛醫(yī)學(xué)院眼科教授Janey Wiggs教授補(bǔ)充說(shuō),,這是一個(gè)具有里程碑意義的研究,,其確定了三個(gè)閉角型青光眼基因,有助于更好地了解這種致盲性疾病的分子機(jī)制,。(生物谷:Bioon.com)
doi:10.1038/ng.2390
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Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
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,et al.
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.