血脂多基因遗传风险评分及其应用制造技术

本发明专利技术提供了一种血脂多基因遗传风险评分(Polygenic risk score，PRS)及其应用，具体而言，本发明专利技术提供了检测个体信息的试剂在制备评估血脂异常风险的检测装置中的应用，其中，所述个体信息包括总胆固醇(TC)相关多个单核苷酸多态性位点、甘油三酯(TG)相关多个单核苷酸多态性位点、低密度脂蛋白胆固醇(LDL

【技术实现步骤摘要】
血脂多基因遗传风险评分及其应用


[0001]本专利技术是关于一种血脂多基因遗传风险评分及其应用。

技术介绍

[0002]血脂是动脉粥样硬化的主要原因。低密度脂蛋白胆固醇(LDL
‑
C)是致动脉粥样硬化性胆固醇的主要形式，此外，甘油三酯(TG)也可通过富含TG的脂蛋白在促心血管疾病中发挥重要作用。因此，血脂控制是心血管疾病一级预防的基础。
[0003]目前血脂控制更多关注高血脂水平的个体，然而，一旦个体出现血脂异常，则很难逆转这一不良状态以及随后而来的心血管不良效应，因此，识别潜在高危个体，尽早开展针对性的零级预防至关重要。

技术实现思路

[0004]本专利技术的一个目的在于提供一种血脂异常风险相关单核苷酸多态性位点及评估系统。
[0005]本专利技术专利技术人在研究中构建了血脂PRS评分，明确PRS与血脂水平、血脂年均变化量及血脂异常发病风险的关系，可以为PRS用于血脂高风险个体的早期筛查和评估提供证据。同时，专利技术人还在研究中明确了血脂年均变化量随年龄的动态变化趋势，有助于发现血脂快速改变的关键年龄窗口，进而确定潜在的预防关键期，并在个体血脂水平尚处于正常水平时提前实施干预。
[0006]具体而言，一方面，本专利技术提供了检测个体信息的试剂在制备评估血脂异常风险的检测装置中的应用，其中，所述个体信息包括以下一组或多组单核苷酸多态性位点信息：
[0007]组I：rs1077834、rs10889353、rs11136341、rs1129555、rs11557092、rs1169288、rs117711462、rs12027135、rs12042319、rs12453914、rs1260326、rs12740374、rs12927205、rs13277801、rs13306194、rs1367117、rs1495741、rs151193009、rs1532085、rs17122278、rs17358402、rs174546、rs174547、rs1800588、rs1883025、rs2000999、rs200990725、rs2043085、rs2066714、rs2081687、rs2230808、rs2297991、rs247616、rs2575876、rs2642442、rs312949、rs3846663、rs4377290、rs439401、rs4883201、rs4939883、rs507666、rs579459、rs58542926、rs651821、rs6871667、rs6882076、rs7185272、rs7258950、rs72654473、rs7306523、rs737337、rs7525649、rs7616006、rs769449、rs7770628、rs7965082、rs9357121、rs9376090、rs9390698；
[0008]组II：rs10096633、rs1037814、rs10889353、rs12042319、rs1260326、rs130071、rs13306194、rs1495741、rs1532085、rs157582、rs16990971、rs17145738、rs174546、rs174547、rs1800234、rs1800588、rs180327、rs1832007、rs2043085、rs2068888、rs2075260、rs2075291、rs2081687、rs2144300、rs3129853、rs35332062、rs439401、rs4719841、rs58542926、rs651821、rs6818397、rs6831256、rs6882076、rs6905288、rs72654473、rs738409、rs7499892、rs769449、rs7897379、rs995000；
[0009]组III：rs11125936、rs11136341、rs1129555、rs11557092、rs1169288、rs117711462、rs12027135、rs12453914、rs12740374、rs12927205、rs13277801、rs13306194、rs1367117、rs151193009、rs17135399、rs17358402、rs191835914、rs2000999、rs200990725、rs2081687、rs2328223、rs2642442、rs312949、rs3846663、rs4302748、rs507666、rs579459、rs58542926、rs6065311、rs6871667、rs6882076、rs7185272、rs7258950、rs7306523、rs737337、rs7499892、rs7525649、rs769449、rs7770628、rs7901016、rs7965082、rs9357121、rs9390698、rs9534262；
[0010]组IV：rs10096633、rs10773003、rs1077834、rs11869286、rs12718465、rs12801636、rs12970066、rs13702、rs148910227、rs1532085、rs1689800、rs17145738、rs174546、rs174547、rs17695224、rs1800588、rs180327、rs181359、rs181360、rs1883025、rs2000813、rs2043085、rs2066714、rs2068888、rs2075291、rs2156552、rs2230808、rs2245019、rs2292318、rs2296172、rs2297991、rs2303790、rs247616、rs2575876、rs2925979、rs2972143、rs326214、rs3785100、rs4129767、rs4142995、rs4148008、rs439401、rs4883263、rs4917014、rs4939883、rs499974、rs634501、rs651821、rs671、rs6905288、rs702485、rs7134594、rs7208487、rs737337、rs7499892、rs769449、rs838880、rs884366、rs9593。
[0011]另一方面，本专利技术还提供了一种，评估血脂异常风险的方法，其包括：检测个体信息；依据检测结果评估个体血脂异常风险。其中，所述个体信息包括所述组I、组II、组III、组IV中一组或多组单核苷酸多态性位点信息。
[0012]根据本专利技术的具体实施方案，本专利技术中，所述个体来自东亚人群。
[0013]根据本专利技术的具体实施方案，本专利技术中，所述血脂异常风险包括以下至少一种情况：
[0014]血脂指标水平；
[0015]血脂指标年均变化量；和/或
[0016]血脂指标异常发病风险。
[0017]根据本专利技术的具体本文档来自技高网...

【技术保护点】

【技术特征摘要】
1.检测个体信息的试剂在制备评估血脂异常风险的检测装置中的应用，其中，所述个体信息包括以下一组或多组单核苷酸多态性位点信息：组I：rs1077834、rs10889353、rs11136341、rs1129555、rs11557092、rs1169288、rs117711462、rs12027135、rs12042319、rs12453914、rs1260326、rs12740374、rs12927205、rs13277801、rs13306194、rs1367117、rs1495741、rs151193009、rs1532085、rs17122278、rs17358402、rs174546、rs174547、rs1800588、rs1883025、rs2000999、rs200990725、rs2043085、rs2066714、rs2081687、rs2230808、rs2297991、rs247616、rs2575876、rs2642442、rs312949、rs3846663、rs4377290、rs439401、rs4883201、rs4939883、rs507666、rs579459、rs58542926、rs651821、rs6871667、rs6882076、rs7185272、rs7258950、rs72654473、rs7306523、rs737337、rs7525649、rs7616006、rs769449、rs7770628、rs7965082、rs9357121、rs9376090、rs9390698；组II：rs10096633、rs1037814、rs10889353、rs12042319、rs1260326、rs130071、rs13306194、rs1495741、rs1532085、rs157582、rs16990971、rs17145738、rs174546、rs174547、rs1800234、rs1800588、rs180327、rs1832007、rs2043085、rs2068888、rs2075260、rs2075291、rs2081687、rs2144300、rs3129853、rs35332062、rs439401、rs4719841、rs58542926、rs651821、rs6818397、rs6831256、rs6882076、rs6905288、rs72654473、rs738409、rs7499892、rs769449、rs7897379、rs995000；组III：rs11125936、rs11136341、rs1129555、rs11557092、rs1169288、rs117711462、rs12027135、rs12453914、rs12740374、rs12927205、rs13277801、rs13306194、rs1367117、rs151193009、rs17135399、rs17358402、rs191835914、rs2000999、rs200990725、rs2081687、rs2328223、rs2642442、rs312949、rs3846663、rs4302748、rs507666、rs579459、rs58542926、rs6065311、rs6871667、rs6882076、rs7185272、rs7258950、rs7306523、rs737337、rs7499892、rs7525649、rs769449、rs7770628、rs7901016、rs7965082、rs9357121、rs9390698、rs9534262；组IV：rs10096633、rs10773003、rs1077834、rs11869286、rs12718465、rs12801636、rs12970066、rs13702、rs148910227、rs1532085、rs1689800、rs17145738、rs174546、rs174547、rs17695224、rs1800588、rs180327、rs181359、rs181360、rs1883025、rs2000813、rs2043085、rs2066714、rs2068888、rs2075291、rs2156552、rs2230808、rs2245019、rs2292318、rs2296172、rs2297991、rs2303790、rs247616、rs2575876、rs2925979、rs2972143、rs326214、rs3785100、rs4129767、rs4142995、rs4148008、rs439401、rs4883263、rs4917014、rs4939883、rs499974、rs634501、rs651821、rs671、rs6905288、rs702485、rs7134594、rs7208487、rs737337、rs7499892、rs769449、rs838880、rs884366、rs9593。2.根据权利要求1所述的应用，其中，所述个体来自东亚人群；优选地，所述个体信息包括以下单核苷酸多态性位点信息：rs10096633、rs1037814、rs10773003、rs1077834、rs10889353、rs11125936、rs11136341、rs1129555、rs11557092、rs1169288、rs117711462、rs11869286、rs12027135、rs12042319、rs12453914、rs1260326、rs12718465、rs12740374、rs12801636、rs12927205、rs1...

【专利技术属性】
技术研发人员：鲁向锋，顾东风，李建新，黄建凤，刘梦瑶，
申请(专利权)人：中国医学科学院阜外医院，
类型：发明
国别省市：