Li Yang, Huang He, Liang Bo, Xiao Feng-Li, Zhou Fu-Sheng, Zheng Xiao-Dong, Yang Sen, Zhang Xue-Jun
Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.
Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, Anhui, China.
Front Genet. 2024 Sep 16;15:1438375. doi: 10.3389/fgene.2024.1438375. eCollection 2024.
Male pattern baldness (MPB), also known as androgenetic alopecia, represents the most prevalent form of progressive hair loss in humans. It is characterized by a distinctive pattern of hair loss progression from the scalp; however, its underlying mechanism remains elusive and is influenced by hereditary, immune, and environmental factors. Genome-wide association studies (GWASs) have uncovered numerous risk genes/loci among European individuals with MPB. However, the validation of these susceptibility genes/loci within Han Chinese men remains largely unexplored. The aim of this study was to investigate whether the 71 susceptibility loci identified in a recent GWAS among European men also confer risk for MPB in Chinese men.
Forty-seven single nucleotide polymorphisms (SNPs) previously reported in GWASs of MPB were selected and genotyped in independent individuals comprising 499 Han Chinese cases and 1,489 controls using the Sequenom MassArray system. After stringent quality control measures, 25 SNPs were subjected to statistical analyses. Cochran-Armitage trend test was used to evaluate the association between SNPs and disease susceptibility. To address multiple tests, Bonferroni correction was conducted, setting the threshold for statistical significance at a -value <2 × 10 (0.05/25).
The rs13405699 SNP located at 2q31.1 exhibited a significant association with MPB in Han Chinese men ( = 4.84 × 10, OR = 1.37, 95% CI: 1.18-1.59). Moreover, the difference in rs13405699 genotype distribution between MPB cases and controls was statistically significant ( = 7.00 × 10). Genotype-based association analysis suggested that the recessive model provided the best fit for the rs13405699 polymorphism.
This study represents the first confirmation of the association between the rs13405699 SNP at 2q31.1 and MPB within the Han Chinese population, thereby enhancing our understanding of the genetic underpinnings of MPB.
男性型秃发（MPB），也称为雄激素性脱发，是人类进行性脱发最常见的形式。其特征是头皮脱发呈现出独特的模式；然而，其潜在机制仍不清楚，并且受遗传、免疫和环境因素影响。全基因组关联研究（GWAS）已在患有MPB的欧洲个体中发现了众多风险基因/位点。然而，在汉族男性中对这些易感基因/位点的验证在很大程度上仍未得到探索。本研究的目的是调查在最近一项针对欧洲男性的GWAS中确定的71个易感位点是否也会增加中国男性患MPB的风险。
选择先前在MPB的GWAS中报道的47个单核苷酸多态性（SNP），并使用Sequenom MassArray系统在由499例汉族病例和1489例对照组成的独立个体中进行基因分型。经过严格的质量控制措施后，对25个SNP进行统计分析。采用 Cochr an-Armitage趋势检验评估SNP与疾病易感性之间的关联。为了解决多重检验问题，进行了Bonferroni校正，将统计学显著性阈值设定为P值<2×10⁻²（0.05/25）。
位于2q31.1的rs13405699 SNP与汉族男性的MPB存在显著关联（P = 4.84×10⁻³，OR = 1.37，95%CI：1.18 - 1.59）。此外，MPB病例与对照之间rs13405699基因型分布的差异具有统计学意义（P = 7.00×10⁻³）。基于基因型的关联分析表明，隐性模型最适合rs13405699多态性。
本研究首次证实了汉族人群中位于2q31.1的rs13405699 SNP与MPB之间的关联，从而加深了我们对MPB遗传基础的理解。
