SNP rs1511412 in FOXL2 gene as a risk factor for keloid by meta analysis.

Objective: Determine whether SNP rs1511412 is associated with keloid.

Design And Methods: One large-scale GWAS identified association between SNP rs1511412 in the FOXL2 gene and keloid disease in the Japanese population. However, researchers didn't observe significant association for keloid in Chinese Han population (PBonferroni>0.05). It's probable that the frequency of this variant in Chinese Han population was relatively low and the sample size was not very large in this study (power =45.5). We performed an independent case control association study in the Chinese Han population and a follow-up large scale meta-analysis for SNP rs1511412.

Results: Our study included 309 keloid patients and 1080 controls of the Chinese Han population. A significant association was found between SNP and keloid (P=0.02, OR=2.23). Meta-analysis included 1847 keloid patients and 7229 controls combined from five Asian populations. The association between SNP rs1511412 and keloid became highly significant (P<1×10(-8) OR=1.89).

Conclusion: We conclude that SNP rs1511412 in FOXL2 is indeed a genetic risk factor for keloid across different ethnic populations.