Nat Commun:大型多民族GWAS荟萃分析鉴定白内障的新风险位点

2021-06-15 xiaozeng MedSci原创

白内障是由晶状体混浊所引起的,其会导致视力的逐渐丧失。

白内障是由晶状体混浊所引起的,其会导致视力的逐渐丧失。白内障可表现为年轻患者的发育障碍(先天性或小儿白内障),而更常见的则是作为衰老疾病出现,且是全球老年人失明的主要原因。

白内障手术是美国最常见的手术之一。既往研究显示,白内障的形成和白内障手术在女性中更为常见。双胞胎和家庭聚集研究也强烈支持了遗传因素在白内障易感性中的重要作用,该疾病的遗传率约为35%到58%。

由于白内障形成的遗传病因尚不清楚,在该研究中,研究人员采用多民族全基因组关联荟萃分析,结合成人健康与老龄化遗传流行病学研究(GERA)和英国生物样本库(UKB)的结果,并在23andMe研究队列中进行了测试。


该研究展示了迄今为止进行的最大的、种族最多样化的白内障易感性遗传研究。分析对象共包括来自两个队列的585,243名个体(67,844例白内障病例和517,399例无白内障的对照)。

GWAS荟萃分析白内障的曼哈顿图

研究人员报告了54个全基因组显著性位点,其中的37个为新发现的。性别分层分析将CASP7确定为女性特有的新基因座。根据iSyTE分析,在不同时空阶段的小鼠晶状体中,白内障相关基因座内或附近80%的基因显著表达和/或富集表达。


此外,iSyTE分析显示,在9种不同的晶状体缺陷/白内障基因扰动小鼠模型中,相关位点中的32个候选基因的表达改变,说明这些基因与晶状体的生物学状态相关。

白内障主要变异的全表型组关联矩阵

总而言之,该研究结果进一步深入的探索了白内障易感性的相关复杂遗传结构。


原始出处:

Choquet, H., Melles, R.B., Anand, D. et al. A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects. Nat Commun 12, 3595 (14 June 2021).

 

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    2022-04-25 liye789132251
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    2022-01-31 liuli5079
  5. [GetPortalCommentsPageByObjectIdResponse(id=1885236, encodeId=2b431885236df, content=<a href='/topic/show?id=3b2112532d8' target=_blank style='color:#2F92EE;'>#Nat#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12532, encryptionId=3b2112532d8, topicName=Nat)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2e6f107, createdName=liye789132251, createdTime=Mon Apr 25 08:29:44 CST 2022, time=2022-04-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1836977, encodeId=4ef218369e75b, content=<a href='/topic/show?id=1f188e230c5' target=_blank style='color:#2F92EE;'>#荟萃分析#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=41, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=87230, encryptionId=1f188e230c5, topicName=荟萃分析)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=b79433, createdName=fangcong, createdTime=Fri May 13 20:29:44 CST 2022, time=2022-05-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1066277, encodeId=012d10662e7d7, content=<a href='/topic/show?id=b2dee16532c' target=_blank style='color:#2F92EE;'>#白内障#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=84, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71653, encryptionId=b2dee16532c, topicName=白内障)], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20211210/ede9c51184aa4f54ae6c1164cfb8eeac/967dbf3eff2943c7bf3ccfec3a776ab0.JPG, createdBy=a33789389, createdName=病毒猎手, createdTime=Tue Nov 02 16:22:13 CST 2021, time=2021-11-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2088032, encodeId=e8b12088032d8, content=<a href='/topic/show?id=490750196b' target=_blank style='color:#2F92EE;'>#COMMUN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5019, encryptionId=490750196b, topicName=COMMUN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7931272, createdName=liuli5079, createdTime=Mon Jan 31 06:29:44 CST 2022, time=2022-01-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1681418, encodeId=1e981681418f7, content=<a href='/topic/show?id=366b8e2299e' target=_blank style='color:#2F92EE;'>#荟萃#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=87229, encryptionId=366b8e2299e, topicName=荟萃)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=c12d27855367, createdName=venlin, createdTime=Sun Dec 19 09:29:44 CST 2021, time=2021-12-19, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1280048, encodeId=ff391280048cc, content=<a href='/topic/show?id=b05983454a' target=_blank style='color:#2F92EE;'>#GWAS#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=8345, encryptionId=b05983454a, topicName=GWAS)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=04ce158, createdName=lxg951, createdTime=Thu Jun 17 13:29:44 CST 2021, time=2021-06-17, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=974028, encodeId=35b29e402807, content=还行吧, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210616/06f7c5da39ab431d951fe3a04f13726f/96f31ac4ff3f4bebb7196c82e8f9845a.jpg, createdBy=2b415520667, createdName=noctis-, createdTime=Wed Jun 16 10:03:02 CST 2021, time=2021-06-16, status=1, ipAttribution=)]
    2021-12-19 venlin
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    2021-06-17 lxg951
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    2021-06-16 noctis-

    还行吧

    0

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