Scanning indels in the 5q22.1 region and identification of the TMEM232 susceptibility gene that is associated with atopic dermatitis in the Chinese Han population

• Published in: Gene 2017-06, Vol.617, p.17-23
• Main Authors: Wu, Yan-Yan, Tang, Jian-Ping, Liu, Qiang, Zheng, Xiao-Dong, Fang, Ling, Yin, Xian-Yong, Jiang, Xiao-Yun, Zhou, Fu-Sheng, Zhu, Fei, Liang, Bo, Li, Yang, Zuo, Xian-Bo, Zhang, Xue-Jun, Xiao, Feng-Li
• Format: Article
• Language: English
• Subjects: Atopic dermatitis; Case-Control Studies; Child; Child, Preschool; China; Chromosomes, Human, Pair 5 - genetics; Deletion; Dermatitis, Atopic - genetics; Expression; Female; Humans; INDEL Mutation; Infant; Male; Membrane Proteins - genetics; Membrane Proteins - metabolism; Polymorphism, Single Nucleotide; TMEM232
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2017.03.034

Atopic dermatitis (AD) is a chronic inflammatory skin disease. The 5q22.1 region was found to have an association with AD in our previous genome-wide association study (GWAS). To identify the AD susceptibility gene in 5q22.1 and observe its expression in AD tissues. Suggestive indels from the GWAS data were genotyped in 3013 AD patients and 5075 controls from the Chinese Han population with the SequenomMassArray system. Association, Bayesian and bioinformatics analyses were used to identify possible causal indels and genes in the 5q22.1 region. Immunohistochemistry (IHC) was performed to observe protein expression in the tissues. PLINK 1.07 software was used for all statistical analyses. The genotyping and association analysis showed that six deletions and four SNPs were associated with AD (P