PhD Program for Health Science and Industry, College of Health Care, China Medical University, Taichung, Taiwan.
Department of Health Services Administration, China Medical University, Taichung, Taiwan.
BMC Med. 2022 Jul 13;20(1):250. doi: 10.1186/s12916-022-02450-w.
Height is an important anthropometric measurement and is associated with many health-related outcomes. Genome-wide association studies (GWASs) have identified hundreds of genetic loci associated with height, mainly in individuals of European ancestry.
We performed genome-wide association analyses and replicated previously reported GWAS-determined single nucleotide polymorphisms (SNPs) in the Taiwanese Han population (Taiwan Biobank; n = 67,452). A genetic instrument composed of 251 SNPs was selected from our GWAS, based on height and replication results as the best-fit polygenic risk score (PRS), in accordance with the clumping and p-value threshold method. We also examined the association between genetically determined height (PRS) and measured height (phenotype). We performed observational (phenotype) and genetic PRS association analyses of height and health-related outcomes.
GWAS identified 6843 SNPs in 89 genomic regions with genome-wide significance, including 18 novel loci. These were the most strongly associated genetic loci (EFEMP1, DIS3L2, ZBTB38, LCORL, HMGA1, CS, and GDF5) previously reported to play a role in height. There was a positive association between PRS and measured height (p < 0.001). Of the 14 traits and 49 diseases analyzed, we observed significant associations of measured and genetically determined height with only eight traits (p < 0.05/[14 + 49]). Height was positively associated with body weight, waist circumference, and hip circumference but negatively associated with body mass index, waist-hip ratio, body fat, total cholesterol, and low-density lipoprotein cholesterol (p < 0.05/[14 + 49]).
This study contributes to the understanding of the genetic features of height and health-related outcomes in individuals of Han Chinese ancestry in Taiwan.
身高是一个重要的人体测量指标，与许多健康相关的结果有关。全基因组关联研究（GWAS）已经确定了数百个与身高相关的遗传位点，主要是在欧洲血统的个体中。
我们在台湾汉族人群（台湾生物银行；n=67452）中进行了全基因组关联分析，并复制了先前报道的与身高相关的 GWAS 确定的单核苷酸多态性（SNP）。根据身高和复制结果，我们从 GWAS 中选择了一个由 251 个 SNP 组成的遗传工具，作为最佳拟合多基因风险评分（PRS），符合聚类和 p 值阈值方法。我们还检查了遗传决定的身高（PRS）与测量身高（表型）之间的关联。我们进行了身高和健康相关结果的观察（表型）和遗传 PRS 关联分析。
GWAS 在 89 个基因组区域中确定了 6843 个 SNP，达到全基因组显著性，包括 18 个新的位点。这些是之前报道的与身高有关的最强关联遗传位点（EFEMP1、DIS3L2、ZBTB38、LCORL、HMGA1、CS 和 GDF5）。PRS 与测量身高呈正相关（p<0.001）。在分析的 14 个特征和 49 种疾病中，我们仅观察到测量和遗传决定的身高与 8 个特征（p<0.05/[14+49]）有显著关联。身高与体重、腰围和臀围呈正相关，与体重指数、腰臀比、体脂肪、总胆固醇和低密度脂蛋白胆固醇呈负相关（p<0.05/[14+49]）。
本研究有助于了解台湾汉族人群身高和健康相关结果的遗传特征。
