Division of Personal Genome Service, Theragen Bio Co., Ltd., Seongnam, Gyeonggi, Korea.
Department of Dermatology, College of Medicine, Dankook University, Cheonan, Korea.
J Cosmet Dermatol. 2022 Nov;21(11):6174-6183. doi: 10.1111/jocd.15187. Epub 2022 Jul 19.
Many candidate genes for androgenetic alopecia (AGA) have been identified in studies of the Caucasians and some Asian populations.
This study aimed to confirm the known susceptibility genes reported in previous studies and find additional candidate genes for high-risk individuals for AGA in Korean population.
PATIENTS/METHODS: We recapitulated the previously reported SNPs and identified the novel Korean AGA risk genetic variants using a Korean hospital-based AGA case and control samples. The population was consisting of 494 individuals (275 AGA cases and 146 controls). Using the 800 K SNPs of precision medical research array (PMRA SNP microarray chip) and imputation-based SNPs, 12 previous GWAS reports for AGA and a total of 62 160 SNPs were examined in our study samples. Also, we conducted the genome-wide association study (GWAS) by the logistic regression analyses for AGA cases and controls with controlling the age as the covariates.
Among the 62 160 SNPs, a total of 1143 SNPs in 76 gene regions showed weak replication tendency with the p-values <0.05 and same direction of effects. Additionally, the GWAS results showed 110 SNPs in 13 independent regions with the suggestive p-values <1.00 × 10 . The most significantly replicated SNP resided on chromosome 20, which were similar to other AGA replication studies including Chinese study. The GWAS identified two SNPs (rs11010734 and rs2420640) increasing the risk for AGA in our study population.
Our study would be a reference of the non-European studies to better understand AGA in different populations and ancestral contexts.
在白种人和一些亚洲人群的研究中，已经发现了许多雄激素性脱发（AGA）的候选基因。
本研究旨在确认先前研究中报道的已知易感基因，并在韩国人群中寻找 AGA 高危个体的其他候选基因。
患者/方法：我们重现了先前报道的 SNP，并使用韩国基于医院的 AGA 病例和对照样本确定了新的韩国 AGA 风险遗传变异。该人群由 494 人组成（275 例 AGA 病例和 146 例对照）。使用精准医学研究阵列（PMRA SNP 微阵列芯片）的 800K SNPs 和基于导入的 SNPs，我们在研究样本中检查了 12 项先前 AGA 的 GWAS 报告和总共 62160 个 SNPs。此外，我们通过 logistic 回归分析对 AGA 病例和对照进行了全基因组关联研究（GWAS），并控制了年龄作为协变量。
在 62160 个 SNPs 中，共有 76 个基因区域的 1143 个 SNPs 表现出微弱的复制趋势，p 值<0.05，效应方向相同。此外，GWAS 结果显示 13 个独立区域的 110 个 SNP 具有提示性 p 值<1.00×10-8。复制最显著的 SNP 位于 20 号染色体上，与包括中国研究在内的其他 AGA 复制研究相似。GWAS 确定了两个 SNP（rs11010734 和 rs2420640）增加了我们研究人群中 AGA 的风险。
我们的研究将为非欧洲研究提供参考，以更好地理解不同人群和祖先背景下的 AGA。
