内科2025，Vol.20Issue(5)：529-537,9.DOI:10.16121/j.cnki.cn45-1347/r.2025.05.12
体重指数与白癜风的因果关系:基于GWAS数据的两样本孟德尔随机化分析
Causal relationship between body mass index and vitiligo:a two-sample Mendelian randomization analysis based on GWAS data
摘要
Abstract
Objective To explore the causal relationship between body mass index(BMI)and vitiligo using the two-sample Mendelian randomization(MR)analysis method.Methods This study was a two-sample MR analysis based on summary data from a genome-wide association study.The exposure data(BMI,n=339,224)and outcome data(vitiligo,n=337,159)were both derived from the European population.The screening criteria for instrumental variables were as follows:(1)Single nucleotide polymorphisms(SNPs)significantly associated with BMI at the genome-wide level(P<5×10-8)were selected;(2)Linkage disequilibrium filtering was performed on the initially screened SNPs(r2<0.001,physical distance>10,000 kb);(3)The PhenoScanner database(v2)was used to retrieve the associated phenotypes of each SNP,and SNPs significantly associated with known confounding factors(such as neurological diseases,mood disorders,sleep status,etc.)were excluded.Five MR analysis methods,including random-effects inverse variance weighting(IVW),MR Egger regression,weighted median estimator(WME),simple mode,and weighted mode,were used to study the causal relationship between BMI and vitiligo.Cochran's Q test was used to assess heterogeneity,the intercept term test in MR Egger regression was used to evaluate horizontal pleiotropy,and a"leave-one-out"method was used for sensitivity analysis.Results The results of all five MR analysis methods showed no statistically significant causal relationship between BMI and vitiligo(all P>0.05).Specifically,the OR obtained by the random-effects IVW method was 1.000 1(95%CI:0.999 6-1.000 6);the OR from MR Egger regression was 1.000 5(95%CI:0.999 1-1.001 8);the OR via WME was 1.000 1(95%CI:0.999 5-1.000 8);the OR using the simple mode was 1.000 2(95%CI:0.998 7-1.001 8);and the OR from the weighted mode was 1.000 2(95%CI:0.999 0-1.001 4).The results of Cochran's Q test showed no statistically significant heterogeneity among SNPs strongly associated with BMI(P>0.05).The intercept term test results of MR Egger regression indicated no horizontal pleiotropy in SNPs strongly associated with BMI(P>0.05).The results of the"leave-one-out"sensitivity analysis showed that after excluding SNPs one by one,the IVW analysis results did not change significantly.Conclusion No genetic-level causal relationship between BMI and vitiligo was found in this study.关键词
体重指数/白癜风/孟德尔随机化/因果推断Key words
Body mass index/Vitiligo/Mendelian randomization/Causal inference分类
医药卫生引用本文复制引用
LI Xiaoping,LU Fuyong,CHEN Yao,PENG Cheng,LIU Yi..体重指数与白癜风的因果关系:基于GWAS数据的两样本孟德尔随机化分析[J].内科,2025,20(5):529-537,9.基金项目
广西壮族自治区中医药管理局自筹经费科研课题(GXZYC20240258) （GXZYC20240258）
广西壮族自治区卫生健康委员会自筹经费科研课题(Z-C20220188 （）
Z-C20230189) （）
