title: 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.
abstract: BACKGROUND
  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).
  
  
  OBJECTIVE
  To identify the AD susceptibility gene in 5q22.1 and observe its expression in AD tissues.
  
  
  METHODS
  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.
  
  
  RESULTS
  The genotyping and association analysis showed that six deletions and four SNPs were associated with AD (P<0.005). The rs11357450 (Pcombined=7.79E-04, OR=1.39, logBayes Factor=1.29) deletion located in TMEM232 was identified to be the strongest variant. Analysis of the genetic model revealed that the dominant model best described rs11357450 (P=1.96E-03, OR=1.22; 95% CI=1.07-1.37). IHC showed that the expression of TMEM232 decreased gradually from the granular layer to the basal layer in AD, but in normal tissues, this trend was reversed. Additionally, positive cytoplasm staining was found in lymphocytes around the blood vessels in AD.
  
  
  CONCLUSIONS
  The study indicates that TMEM232 in the 5q22.1 region is the causal gene for AD in the Chinese Han population.
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Yan-Yan
authors.initials: YY
authors.lastname: Wu
authors.affiliation: Department of dermatology, Hunan Children' Hospital, Changsha, Hunan, China.
authors.forename: Jian-Ping
authors.initials: JP
authors.lastname: Tang
authors.affiliation: Department of dermatology, Shanxi Children' Hospital, Taiyuan, Shanxi, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Zheng
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Fang
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xian-Yong
authors.initials: XY
authors.lastname: Yin
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xiao-Yun
authors.initials: XY
authors.lastname: Jiang
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Zhou
authors.affiliation: Department of Plastic Surgery, First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Zhu
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Liang
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China. Electronic address: zuoxianbo@ahmu.edu.cn.
authors.forename: Xian-Bo
authors.initials: XB
authors.lastname: Zuo
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.affiliation: Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, China. Electronic address: xiaofengli@ahmu.edu.cn.
authors.forename: Feng-Li
authors.initials: FL
authors.lastname: Xiao
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003876:Dermatitis, Atopic / Q000235:genetics*; D005260:Female; D006801:Humans; D054643:INDEL Mutation; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide
chemical_list: D008565:Membrane Proteins; C000620555:TMEM232 protein, human
keywords: Atopic dermatitis; Deletion; Expression; TMEM232