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基于孟德尔随机化方法估计初潮年龄对青春期身高增长的因果效应

Estimation of Causal Effect of Age at Menarche on Pubertal Height Growth Using Mendelian Randomization.

机构信息

Department of Biostatistics, University of Iowa, Iowa City, IA 52242, USA.

Lieber Institute for Brain Development, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

出版信息

Genes (Basel). 2022 Apr 17;13(4):710. doi: 10.3390/genes13040710.

Abstract

We use Mendelian randomization to estimate the causal effect of age at menarche on late pubertal height growth and total pubertal height growth. The instrument SNPs selected from the exposure genome-wide association study (GWAS) are validated in additional population-matched exposure GWASs. Based on the inverse variance weighting method, there is a positive causal relationship of age at menarche on late pubertal growth (β^=0.56, 95% CI: (0.34, 0.78), p=3.16×10-7) and on total pubertal growth (β^=0.36, 95% CI: (0.14, 0.58), p=1.30×10-3). If the instrument SNPs are not validated in additional exposure GWASs, the estimated effect on late pubertal height growth increases by 3.6% to β^=0.58 (95% CI: (0.42, 0.73), p=4.38×10-13) while the estimates on total pubertal height growth increases by 41.7% to β^=0.51 (95% CI: (0.35, 0.67), p=2.96×10-11).

摘要

我们使用孟德尔随机化来估计初潮年龄对青春期后期身高增长和总青春期身高增长的因果效应。从暴露全基因组关联研究(GWAS)中选择的工具 SNP 在额外的人群匹配的暴露 GWAS 中得到验证。基于逆方差加权法,初潮年龄与青春期后期生长(β^=0.56,95%置信区间:(0.34,0.78),p=3.16×10-7)和总青春期生长(β^=0.36,95%置信区间:(0.14,0.58),p=1.30×10-3)之间存在正的因果关系。如果工具 SNP 在额外的暴露 GWAS 中没有得到验证,那么对青春期后期身高增长的估计影响将增加 3.6%,达到β^=0.58(95%置信区间:(0.42,0.73),p=4.38×10-13),而总青春期身高增长的估计值将增加 41.7%,达到β^=0.51(95%置信区间:(0.35,0.67),p=2.96×10-11)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d2c/9029282/b60c22680f54/genes-13-00710-g001.jpg

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