title: Association of GTF2I and GTF2IRD1 polymorphisms with systemic lupus erythematosus in a Chinese Han population.
abstract: OBJECTIVE
  Systemic lupus erythematosus (SLE) is the most common systemic autoimmune disease which likely involves complex interactions between genes and the environment. Two large-scale genome-wide association studies (GWAS) have implicated many loci as genetic risk factors associated with primary Sjögren's syndrome (pSS). Among them there are a number of pSS associated gene polymorphisms including the MHC-II, STAT4, IRF5, BLK, and TNIP1 genes that are shared with SLE. However, the association of other genes such as GTF2I, GTF2IRD1, and IL12A with SLE remain unknown. This study aimed to determine whether single nucleotide polymorphisms (SNPs) in GTF2I, GTF2IRD1 or IL12A genetically predispose a Chinese Han population to SLE.
  
  
  METHODS
  Four SNPs in the GTF2I region (rs117026326), the GTF2IRD1 region (rs4717901), and the IL12A region (rs485497, rs583911) were genotyped in a cohort of 948 SLE patients and 938 healthy controls, using the polymerase chain reaction-ligation detection reaction (PCR-LDR) method.
  
  
  RESULTS
  he frequency of risk allele of rs117026326 was notably higher in SLE patients than in controls (37.2% vs. 14.9%, OR: 3.39, 95%CI: 2.89-3.97, pc =3.31×10-54). Similarly, rs4717901 was also associated with SLE (35.3% vs. 20.2%, OR: 2.16, 95%CI: 1.86-2.50, pc =1.50×10-24). The frequencies of alleles and genotypes of IL12A SNPs were not significantly different between the SLE patients and controls.
  
  
  CONCLUSIONS
  This study demonstrates a significant association between SLE and the GTF2I rs117026326 T allele, GTF2IRD1 rs4717901 C allele. The association of GTF2I and GTF2IRD1 as common genetic susceptibility factor in SLE will require further validation in other ethnic lines.
authors: Rheumatology & Clin.Immunology, Chinese Academy Med. Sciences & Peking Union Med.College, Key Lab.of Rheumatology & Clin.Immunology, Ministry of Education, Beijing; and Dept. Rheumatology, Affiliated Hosp. of Qingdao Univ. Med.College, Shangdong, China.
authors: Yuan
authors: Y
authors: Li
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Ping
authors: P
authors: Li
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Si
authors: S
authors: Chen
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Ziyan
authors: Z
authors: Wu
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Jing
authors: J
authors: Li
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Shulan
authors: S
authors: Zhang
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Chunwei
authors: C
authors: Cao
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Li
authors: L
authors: Wang
authors: Department of Rheumatology, The Affiliated Hospital of Qingdao University Medical College, Shangdong, China.
authors: Bin
authors: B
authors: Liu
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Fengchun
authors: F
authors: Zhang
authors: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
authors: Yong Zhe
authors: YZ
authors: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D015534:Trans-Activators / Q000235:genetics*; D019473:Transcription Factors, TFII / Q000235:genetics*; D055815:Young Adult
chemical_list: C104259:GTF2I protein, human; C405493:GTF2IRD1 protein, human; D009124:Muscle Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; D019473:Transcription Factors, TFII