Association of variants in signal transducer and activator of transcription 4 in Chinese Han population with rheumatoid arthritis / 中华风湿病学杂志

ABSTRACT

Objective To investigate the associations of variants in signal transducer and activator of transcription 4 (STAT4) in Chinese Han population with rheumatoid arthritis (RA). Methods The study was performed in 228 RA cases and 228 controls. Haplotypes from the HapMap database Chinese population were used to select tag-single-nucleotide polymorphisms (SNPs) (r2=0.9) in STAT4 gene. Twenty-three SNPs located in STAT4 gene were examined by multiplex polymerase chain reaction (PCR) and matrix-assisted laser desorption ionization-time-of-flight mass spectrometry (MALDI-TOF MS). The Hardy-Weinberg equilibrium (HWE) was tested by a chi-square and Fisherˊs analysis. Differences in genotypes of the STAT4 polymorphism variants were evaluated using a Chi-square test. All statistical analyses were done with Haploview 4.1 software. Results Significant difference was detected in three SNPs (rs11685878, rs129888 and rs16833437) in allele frequencies analysis (χ2=6.014 8, 4.024 8, 5.539 1, P<0.05). Association was detected for three SNPs (rs11685878, rs16833437 and rs12988825) in genotype analysis ( χ2=6.814 9, 6.098 7, 6.691 7, P<0.05). Conclusion STAT4 may associate with susceptibility in Chinese Han population.