The first broad replication study of SNPs and a pilot genome-wide association study for androgenetic alopecia in Asian populations

Background: Many candidate genes for androgenetic alopecia (AGA) have been identified in studies of the Caucasians and some Asian populations.

Aims: 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.

Results: 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^-5 . 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.

Conclusions: Our study would be a reference of the non-European studies to better understand AGA in different populations and ancestral contexts.