Height is one of the most influential traits of human beings, it has a high heritability factor but few major alleles. Hundreds of candidate genetic variants that potentially play a role in the determination of human height have been identified through dozens of genome-wide association studies (GWAS). Profiling these variants, underlying genes, and networks can help for understanding the genetic knowledge of human height. In this study, a multi-step integrative bioinformatic analysis platform was performed to identify hub genes and their interacting partners. Single nucleotide polymorphisms (SNPs) and other variant loci (n = 673) were collected from 30 data sets (n = 327,870) from GWAS Central. Next, we performed multi-step integrative bioinformatic analyses, including function prediction of SNPs, Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, and protein-protein interaction (PPI). A total of 372 genes were identified and mapped to pathways based on the reported and prioritized height-related SNPs. The majority were significantly enriched in skeletal system development and morphogenesis; cartilage development and differentiation; and other height-related biological process (BP); as well as the pathway which relates to long-term depression. The top 10 hub genes were identified from this analysis and a corresponding PPI network were also developed. This replication study identified candidate height-related hub genes based on input from GWAS studies and pathway analyses. This multi-step integrative bioinformatic analysis with GWAS inputs is an applicable approach to investigate the genetic background of human height and other complex polygenic traits.

身高是人类最有影响力的特征之一，它具有很高的遗传力，但主要等位基因却很少。通过数十项全基因组关联研究（GWAS），已经确定了数百种可能在确定人类身高中发挥作用的候选遗传变异。对这些变体，基础基因和网络进行概要分析可以帮助理解人类身高的遗传知识。在这项研究中，执行了一个多步骤的综合生物信息学分析平台，以识别集线器基因及其相互作用的伙伴。从GWAS Central的30个数据集中（n = 327,870）收集了单核苷酸多态性（SNP）和其他变异位点（n = 673）。接下来，我们进行了多步骤的综合生物信息学分析，包括SNP的功能预测，基因本体论（GO），京都基因与基因组百科全书（KEGG）富集分析和蛋白质-蛋白质相互作用（PPI）。根据已报告的和与高度相关的SNP优先级，共鉴定了372个基因并将其定位于途径。大多数人的骨骼系统发育和形态发生显着丰富。软骨发育和分化；和其他与高度有关的生物过程（BP）；以及与长期抑郁有关的途径。从该分析中鉴定出前10个中枢基因，并且还开发了相应的PPI网络。这项复制研究基于GWAS研究的输入和途径分析，鉴定了与高度相关的候选枢纽基因。