Identification of ASAH1 as a susceptibility gene for familial keloids.

ABSTRACT: Keloids result from abnormal proliferative scar formation with scar tissue expanding beyond the margin of the original wound and are mostly found in individuals of sub-Saharan African descent. The etiology of keloids has not been resolved but previous studies suggest that keloids are a genetically heterogeneous disorder. Although possible candidate genes have been suggested by genome-wide association studies using common variants, by upregulation in keloids or their involvement in syndromes that include keloid formation, rare coding variants that contribute to susceptibility in non-syndromic keloid formation have not been previously identified. Through analysis of whole-genome data we mapped a locus to chromosome 8p23.3-p21.3 with a statistically significant maximum multipoint LOD score of

SUBMITTER: Santos-Cortez RLP 

PROVIDER: S-EPMC5602022 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature