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单核苷酸多态性的遗传风险评分累积效应对代谢综合征痰证易感性的影响

Cumulative effect of genetic risk score of polygenic single nucleotide polymorphism on susceptibility to phlegm syndrome in metabolic syndrome
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摘要 目的:探讨代谢综合征(MS)痰证易感性与多基因单核苷酸多态性(SNPs)遗传风险评分累积效应、肥胖之间的关系。方法:运用证素辨证的方法将MS患者(685例)分成MS痰证组(394例)和非痰证组(291例),采用SNP scanTM多重SNP分型技术检测685例MS患者的46个SNPs基因型,使用广义线性模型(GLM)初步筛选46个SNPs中可能能够良好预测痰证的SNPs,再采用简单相加遗传风险评分(SC-GRS)和以OR值为权重的遗传风险评分(OR-GRS)两种计算方法分析多个SNPs、肥胖与MS痰证易感风险的关系。最后以BMI为标准进行分层分组计算多个基因SNPs的GRS累积效应。结果:多个基因SNPs累积的GRS越高,患MS痰证的风险越高{OR(95%CI):3.128[1.896,5.160]/3.166[2.032,4.934]}(P<0.05)。以BMI为标准分层,肥胖者累积的GRS越高,其痰证的风险也越高{OR(95%CI):2.449[1.429,4.198]/2.251[1.339,3.784]}(P<0.05)。结论:LPL rs10503669、CDKN2B-AS1 rs564398、KCNJ11 rs5215、ABCA1 rs2230806、MTNR1B rs10830963、MC4R rs17782313这6个SNPs是MS痰证的遗传风险因素,其累积的GRS越高,痰证的易感风险越高。 Objective:To explore the relationship between the susceptibility risk of phlegm syndrome in metabolic syndrome and genetic risk scoring methods,as well as obesity.Methods:MS patients were divided into the MS phlegm syndrome group(394 cases)and the non phlegm syndrome group(291 cases)using the syndrome differentiation method.The SNPscanTM multiple SNP typing technique was used to detect the genotypes of 46 SNPs,and a generalized linear model(GLM)was used for preliminary analysis Screen out 46 SNPs that may be able to predict phlegm syndrome well,and then two calculation methods were used to analyze the relationship between multiple SNPs and obesity on the susceptibility to MS phlegm syndrome,namely the Simple Additive Genetic Risk Score(SC-GRS)and the OR Weighted Genetic Risk Score(OR-GRS).Finally,the GRS cumulative effect of multiple gene SNPs was calculated by stratified grouping based on BMI as the standard.Results:The higher the genetic risk score,the higher the risk of developing MS phlegm syndrome{OR(95%CI):3.128[1.896,5.160]/3.166[2.032,4.934]}(P<0.05).Stratified by BMI,the higher the genetic risk score of obese individuals,the higher the risk of phlegm syndrome{OR(95%CI):2.449[1.429,4.198]/2.251[1.339,3.784]}(P<0.05).Conclusion:LPL rs10503669,CDKN2B-AS1 rs564398,KCNJ11rs5215,ABCA1 rs2230806,MTNR1B rs10830963,MC4R rs17782313,these six SNPs are genetic risk factors for MS phlegm syndrome.The higher the genetic risk score,the higher the susceptibility of phlegm syndrome.
作者 李缘缘 黄涛 林雪娟 王永发 乔世杰 郑秀娟 蔡晶 高碧珍 LI Yuanyuan;HUANG Tao;LIN Xuejuan;WANG Yongfa;QIAO Shije;ZHENG Xiujuan;CAI Jing;GAO Bizhen(Fujian University of Traditional Chinese Medicine,Fuzhou 350122,China;Key Laboratory of TCM Syndrome Research in Fujian Province University,Fuzhou 350122,China;Jinjiang Hospital Affiliated to Fujian University of Traditional Chinese Medicine,Jinjiang 362200,China;The Third People's Hospital Affiliated to Fujian University of Traditional Chinese Medicine,Fuzhou 350122,China;Fujian Key Laboratory of TCM Health Status,Fuzhou 350122,China)
出处 《中华中医药杂志》 CAS CSCD 北大核心 2024年第5期2667-2674,共8页 China Journal of Traditional Chinese Medicine and Pharmacy
基金 国家自然科学基金项目(No.81873234,No.81273666) 福建省卫生教育联合攻关计划项目(No.2019-WJ-39) 福建省自然科学基金面上项目(No.2021J01891)。
关键词 代谢综合征 痰证 非痰证 单核苷酸多态性 遗传风险评分 Metabolic syndrome Phlegm syndrome Non-phlegm syndrome Single nucleotide polymorphisms(SNPs) Genetic Risk Score(GRS)
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