title: STAT4 is a genetic risk factor for systemic sclerosis in a Chinese population.
abstract: Systemic sclerosis (SSc) is an immune-mediated and complex genetic disease. An association of single-nucleotide polymorphisms (SNPs) in the STAT4 gene with SSc has been reported in European Caucasians, North Americans and Japanese. We undertook the current study to examine whether the STAT4 SNPs are also associated with susceptibility to SSc and SSc subsets in a Han Chinese population. A total of 453 Han Chinese patients with SSc and 534 healthy controls were examined in the study. The SNPs rs7574865, rs10168266 and rs3821236 of the STAT4 gene were examined with SNP TaqMan assays. The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc). The presence of anti-centromere (ACA) and limited cutaneous SSc (lcSSc) did not show significant association with any of the examined SNPs. The results were consistent with previous reports in other ethnic populations in supporting the notion that polymorphisms of STAT4 may play an important role in susceptibility to SSc. It also revealed different genetic aspects of SSc subsets in a Han Chinese population.
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.|Gansu College of Traditional Chinese Medicine, Lanzhou, Gansu, China.
authors.forename: L
authors.initials: L
authors.lastname: Yi
authors.affiliation: State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, China.|Institute of Rheumatology, Immunology, and Allergy, Fudan University, China.
authors.forename: J C
authors.initials: JC
authors.lastname: Wang
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: X J
authors.initials: XJ
authors.lastname: Guo
authors.affiliation: Gansu Provincial Hospital, Lanzhou, Gansu, China.
authors.forename: Y H
authors.initials: YH
authors.lastname: Gu
authors.affiliation: Shanghai Traditional Chinese Medicine-Integrated Hospital, Shanghai, China.
authors.forename: W Z
authors.initials: WZ
authors.lastname: Tu
authors.affiliation: YilingHospital, Shijiazhuang, Hebei Province, China.
authors.forename: G
authors.initials: G
authors.lastname: Guo
authors.affiliation: Teaching Hospital of Chengdu University of TCM, Chengdu, Sichuan Province, China.
authors.forename: L
authors.initials: L
authors.lastname: Yang
authors.affiliation: Second Xiangya Hospital, Central South University, Changsha, Hunan Province.
authors.forename: R
authors.initials: R
authors.lastname: Xiao
authors.affiliation: Shanghai Traditional Chinese Medicine-Integrated Hospital, Shanghai, China.
authors.forename: L
authors.initials: L
authors.lastname: Yu
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: M D
authors.initials: MD
authors.lastname: Mayes
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: S
authors.initials: S
authors.lastname: Assassi
authors.affiliation: State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, China.
authors.forename: L
authors.initials: L
authors.lastname: Jin
authors.affiliation: Institute of Rheumatology, Immunology, and Allergy, Fudan University, China.|Huashan Hospital, Fudan University, China.
authors.forename: H J
authors.initials: HJ
authors.lastname: Zou
authors.affiliation: Division of Rheumatology and Clinical Immunogenetics, University of Texas Medical School at Houston, USA.
authors.forename: X D
authors.initials: XD
authors.lastname: Zhou
mesh_terms: D044466:Asian People / Q000235:genetics*; D001323:Autoantibodies / Q000097:blood; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004264:DNA Topoisomerases, Type I / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011658:Pulmonary Fibrosis / Q000208:ethnology / Q000235:genetics / Q000276:immunology; D012307:Risk Factors; D050797:STAT4 Transcription Factor / Q000235:genetics*; D045743:Scleroderma, Diffuse / Q000208:ethnology / Q000235:genetics / Q000276:immunology; D012595:Scleroderma, Systemic / Q000097:blood / Q000208:ethnology / Q000235:genetics* / Q000276:immunology
chemical_list: D001323:Autoantibodies; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; D004264:DNA Topoisomerases, Type I