All polymorphisms studied in this paper [PMID: 21683716] , total : 4 polymorphisms

Title : Signal transducer and activator of transcription 4 gene polymorphisms associated with rheumatoid arthritis in Northwestern Chinese Han population.

Abstract : AIMS: Signal transducer and activator of transcription 4 (STAT4) gene encode a transcriptional factor that transmits signals induced by several key cytokines which play important roles in the development of autoimmune diseases. Recently, several single nucleotide polymorphisms (SNPs) in STAT4 gene have been reported to be significantly associated with Rheumatoid arthritis (RA) in different ethnic populations. We undertook this study to investigate whether the association of STAT4 genetic polymorphisms with RA is present in Northwestern Chinese Han population. MAIN METHODS: A case-control association study in individuals with RA (n=208) and healthy controls (n=312) was conducted. Four SNPs (rs7574865, rs8179673, rs10181656, rs11889341) in STAT4 gene were genotyped by using polymerase chain reaction followed by denaturing high-performance liquid chromatography (PCR-DHPLC) and DNA sequencing. KEY FINDINGS: The genotype and allele distributions of four polymorphisms were significantly different in individuals with RA compared to controls, with SNP rs7574865 T allele and T/T genotype showing the most significant association with susceptibility to RA (uncorrected P=1x10(-4), OR=1.645, 95% CI=1.272-2.129; uncorrected P=4.8x10(-5), OR=3.111, 95% CI=1.777-5.447, respectively). Stratification studies showed that STAT4 gene polymorphisms were significantly associated with anti-cyclic citrullinated peptide (anti-CCP) positive subgroup in Northwestern Chinese Han population. SIGNIFICANCE: These findings strongly suggest that STAT4 genetic polymorphisms are associated with RA in Northwestern Chinese Han population, and support the hypothesis of STAT4 gene polymorphisms increasing the risk for RA across major populations.

Author : Liang YL,Wu H,Li PQ,Xie XD,Shen X,Yang XQ,Cheng X,Liang L,

Source : Life Sci. 2011 Aug 1;89(5-6):171-5. doi: 10.1016/j.lfs.2011.05.012. Epub 2011 Jun 12.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs11889341	STAT4	6775
2	rs7574865	STAT4	6775
3	rs8179673	STAT4	6775
4	rs10181656	STAT4	6775