Hypertension: 遗传因素预测高血压发病与心血管风险

2021-02-23 MedSci原创 MedSci原创

遗传信息可以提高对高血压风险的预测能力

高血压影响着全球超过10亿人,是全球主要死亡原因--血管疾病(CVD)的核心风险因素。为了预防CVD及其并发症,临床医生必须能够准确评估患者患高血压的风险。

虽然生活方式因素可以预测高血压,但生活方式会不断改变。而相比之下,遗传因素是固定的,并且研究已经发现遗传因素会影响高血压的风险:父母高血压发病较早与后代高血压密切相关,双生子研究估计高血压的遗传度在50%~60%

全基因组关联分析(GWAS)已经发现了血压与单核苷酸多态性(SNPs)的效应关系,而多基因风险评分(PRSs)将数百万个SNP的效应大小结合起来,综合计算为一个分值。一个人的PRS越高,他对该疾病的遗传风险越高。因此PRS有助于识别出某类疾病的高风险人群,有助于加强对疾病风险的预测能力。

为了量化遗传因素对高血压和心血管疾病的预测能力,Felix Vaura等研究者分析了芬兰超过20万人的遗传和血压数据,研究成果近日发表于高血压权威期刊Hypertension上。

该研究纳入了218 792名FinnGen参与者(平均年龄58岁,56%为女性)和22 624名FINRISK参与者(平均年龄50岁,53%为女性)。研究者使用公开的全基因组关联数据来计算收缩压和舒张压(BP)的多基因风险评分(PRSs),然后评估了(1)在FinnGen中血压PRSs与高血压和心血管疾病(CVD)的关联性,以及(2)在FINRISK中,将血压PRSs与4年和10年高血压和CVD临床风险评分相结合时,预测模型是否改善。

在FinnGen中,与PRS在第20-80百分位范围的人群相比,PRS在最高的2.5%的人增加了2.3倍(95% CI,2.2-2.4)的高血压风险提前了10.6年(95% CI,9.9-11.4)的高血压发病时间。在亚组分析中,晚期高血压(年龄≥55岁)的这一风险仅为1.6倍(95% CI,1.5-1.7),但早期高血压(年龄<55岁)的风险为2.8倍(95% CI,2.6-2.9)。

图1 不同多基因风险评分(PRS)类别的高血压累积风险。

图2 不同多基因风险评分(PRS)类别的高血压发病年龄差异。

在FINRISK中,收缩压和舒张压PRS改善了对高血压临床风险的预测能力,使C统计量增加了0.7%(95% CI,0.3-1.1)。

该研究证明遗传信息可以提高对高血压风险的预测能力,特别是对早期高血压的预测。基因检测的费用越来越低廉,一个病人可以通过基因检测并计算血压的PRSs来预测他一生的高血压遗传风险。此遗传信息可与传统的危险因素一起使用,以改善对高血压风险的预测,或独立地估计高血压的终生风险。未来的研究应进一步发展PRS方法,并研究基于PRS的遗传风险咨询对健康行为和高血压预防的影响。

参考文献
Vaura F, Kauko A, Suvila K, et al. Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk \[published online ahead of print, 2021 Feb 22\]. _Hypertension_. 2021;HYPERTENSIONAHA12016471. doi:10.1161/HYPERTENSIONAHA.120.16471

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    2021-12-05 feather89
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    2021-03-08 1371f3708cm

    提高认识

    0

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  7. [GetPortalCommentsPageByObjectIdResponse(id=2082552, encodeId=96ce2082552f6, content=<a href='/topic/show?id=56658981223' target=_blank style='color:#2F92EE;'>#血管风险#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89812, encryptionId=56658981223, topicName=血管风险)], attachment=null, authenticateStatus=null, createdAvatar=http://thirdqq.qlogo.cn/qqapp/101296147/78FA0899509C358B01B975E8EAC1F88A/100, createdBy=7d822500145, createdName=ms5353107019656438, createdTime=Wed Apr 21 16:40:08 CST 2021, time=2021-04-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2039247, encodeId=5d0b203924e64, content=<a href='/topic/show?id=b45d1e274e8' target=_blank style='color:#2F92EE;'>#TENS#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=37, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=17274, encryptionId=b45d1e274e8, topicName=TENS)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=3b172500206, createdName=12498ebem19暂无昵称, createdTime=Sun Mar 28 05:40:08 CST 2021, time=2021-03-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1728837, encodeId=b0851e28837a7, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Sun Dec 05 17:40:08 CST 2021, time=2021-12-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=946365, encodeId=275c946365fd, content=提高认识, beContent=null, objectType=article, channel=null, level=null, likeNumber=78, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=29d12087071, createdName=1371f3708cm, createdTime=Mon Mar 08 12:33:39 CST 2021, time=2021-03-08, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1446360, encodeId=a1b91446360e0, content=<a href='/topic/show?id=fa34950e8ce' target=_blank style='color:#2F92EE;'>#遗传因素#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=43, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95078, encryptionId=fa34950e8ce, topicName=遗传因素)], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTJO58hUEwHTSriboUiaJJVJAFUh2Q9zFwDhIEx3o4vPWboomNEm7aRGHPjKslbcgez2BD57yUYH1FbQ/132, createdBy=16985204412, createdName=wjcjjian, createdTime=Wed Feb 24 19:40:08 CST 2021, time=2021-02-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1501524, encodeId=ec79150152433, content=<a href='/topic/show?id=f2db9238f9' target=_blank style='color:#2F92EE;'>#Hypertension#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=29, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9238, encryptionId=f2db9238f9, topicName=Hypertension)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=11ff9497046, createdName=jambiya, createdTime=Wed Feb 24 19:40:08 CST 2021, time=2021-02-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=926668, encodeId=36b992666867, content=有用, beContent=null, objectType=article, channel=null, level=null, likeNumber=80, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=7afb5456882, createdName=宙蕨, createdTime=Tue Feb 23 18:29:23 CST 2021, time=2021-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=926522, encodeId=aa3b92652209, content=遗传基因很强大, beContent=null, objectType=article, channel=null, level=null, likeNumber=83, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=b7a31928393, createdName=学医无涯, createdTime=Tue Feb 23 07:41:06 CST 2021, time=2021-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=926507, encodeId=11bb92650e3f, content=重视, beContent=null, objectType=article, channel=null, level=null, likeNumber=77, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210127/50a003c4097845e182c08afd64d8a509/bd766dfebe9c40e0bca2dae964601bdc.jpg, createdBy=22de5454917, createdName=carrotlyl, createdTime=Tue Feb 23 06:28:42 CST 2021, time=2021-02-23, status=1, ipAttribution=)]
    2021-02-23 宙蕨

    有用

    0

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    2021-02-23 学医无涯

    遗传基因很强大

    0

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    2021-02-23 carrotlyl

    重视

    0

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