Identification of theTMEM232 gene associated with atopic dermatitis through targeted capture sequencing

Abstract

BACKGROUNDAtopic dermatitis (AD) is a common and complex skin disorder, and the 5q22.1 region had been reported to be associated with AD. OBJECTIVETo identify the susceptibility gene for AD in the 5q22.1 region by haplotype and targeted capture sequencing. METHODSThe haplotypes were reconstructed with our previously genotyping data of four SNPs and six deletions from 3055 Chinese Hans AD patients and 4346 controls. The targeted capture sequencing spanning 5q22.1 region was performed in the selected samples. The gene level enrichment analysis was done using loss of function variants. RESULTSA total of 60 haplotypes were found, and the H15 haplotype had the strongest association with AD (P = 2.72x10 -10, OR = 0.14, 95%CI = 0.07-0.28). However, No co-segregation mutation sites were found in the sequencing analysis within the 16 selected samples, while the enrichment analysis indicated that TMEM232 was significantly associated with AD (P = 7.33x10 -5, OR = 0.33, 95% CI = 0.19-0.58). CONCLUSIONSThis study confirms previous findings that the TMEM232 gene is associated with AD by haplotype analysis and targeted capture sequencing.