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A variant on chromosome 2p13.3 is associated with atopic dermatitis in Chinese Han population.
Cai, Xin-Ying; Zheng, Xiao-Dong; Fang, Ling; Zhou, Fu-Sheng; Sheng, Yu-Jun; Wu, Yan-Yan; Yu, Chong-Xian; Zhu, Jun; Xiao, Feng-Li.
Afiliación
  • Cai XY; 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 M
  • Zheng XD; 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 M
  • Fang L; 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 M
  • Zhou FS; 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 M
  • Sheng YJ; 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 M
  • Wu YY; 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 M
  • Yu CX; 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 M
  • Zhu J; 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 M
  • Xiao FL; 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 M
Gene ; 628: 281-285, 2017 Sep 10.
Article en En | MEDLINE | ID: mdl-28739399
BACKGROUND: Multi-ancestry genome-wide association study (GWAS) has recently identified 11 new susceptibility loci for Atopic dermatitis (AD). The replication of these new susceptibility loci in different populations should not be ignored. OBJECTIVE: To examine whether these 11 new identified susceptibility loci are also associated with AD in the Chinese Han population. METHODS: These 11 variants were imputed using our genome-wide array dataset. The selected SNPs with suggestive signals were genotyped in a large-scale replication study with a total of 4619 cases and 10,789 controls using the Sequenom Massarray system. Association analyses were performed using PLINK 1.07 software. Results were combined across our previous AD-GWAS stage and the replication stage by meta-analysis. Bioinformatic analysis was done to predict the possible causal gene. RESULTS: Of the 11 SNPs investigated, four SNPs showed suggestive association (P<0.05) in our previously published GWAS datasets. Association evidence for an intergenic variant rs112111458 at 2p13.3 with AD was replicated in Chinese Han population (P=7.37×10-7, OR=0.86), showing significance in Meta analysis of GWAS and replication study (Pmeta=8.18×10-08, OR=0.69). Further functional annotation by HaploReg indicated that transcriptional regulation activity exists at this locus for the CD207 gene in skin tissue. CONCLUSIONS: Our study confirmed a previously reported susceptibility loci in the Chinese Han population, which implicates CD207 might be a new susceptibility gene for AD and highlights the crucial role of immune responses in AD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Cromosomas Humanos Par 2 / Predisposición Genética a la Enfermedad / Sitios de Carácter Cuantitativo / Dermatitis Atópica Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Asia Idioma: En Revista: Gene Año: 2017 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Cromosomas Humanos Par 2 / Predisposición Genética a la Enfermedad / Sitios de Carácter Cuantitativo / Dermatitis Atópica Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Región como asunto: Asia Idioma: En Revista: Gene Año: 2017 Tipo del documento: Article Pais de publicación: Países Bajos