Association of Polymorphisms of Signal Transducer and Activator of Transcription 4 with the Susceptibility to Preeclampsia / 中山大学学报(医学科学版)

[Objective]To investigate associations between the functional polymorphisms of signal transducer and activator of transcription 4 (STAT4) gene and preeclampsia.[Methods]PCR-restriction fragment length polymorphism was used to genotype rs10181656 and rs16833431 local polymorphism in 228 preeclampsia cases and 179 normal controls.[Results](1)The frequencies of rs10181656C/G were 35.96%,46.37%in genotype C/C,47.81%,44.69%in genotype C/G and 16.23%,8.94%in genotype G/G between preeclampsia patients and normal controls. They reached statistical difference (P = 0.031). There was different distribution in two alleles(C and G)between preeclampsia patients and normal controls(P=0.009).(2)There was no different distribution in 3 genotypes(C/C,C/T,T/T)and 2 alleles(C and T)of rs16833431 C/T between preeclampsia patients and normal controls(P =0.508,0.461).[Conclusions]Functional polymorphisms of the rs10181656 locus could associate with the preeclampsia. The polymor-phisms of the rs16833431 locus could not associate with the preeclampsia.

Association of rs10181656 Polymorphism in Signal Transducer and Activator of Transcription 4 Gene with Susceptibility to Unexplained Recurrent Spontaneous Abortion / 中山大学学报(医学科学版)

[Objective] To investigate associations between the functional polymorphisms of signal transducer and activator of transcription 4 (STAT4) gene and unexplained recurrent spontaneous abortion (URSA) and between STAT4 protein expression and the genotypes of rs 10181656 locus.[Methods] PCR-restriction fragment length polymorphism was used to genotype rs 1 0181656 locus polymorphism in 332 URSA cases and 260 normal controls,in 86 URSA cases and 77 normal controls of which immunohistochemical technique was used to detect STAT4 protein expression.[Results] The frequencies of rs10181656 C/G were 36.45 ％,46.54％ in genotype C/C,46.99％,45.38％ in genotype C/G and 16.57％,8.08％ in genotype G/G between URSA patients and normal controls.They reached statistical difference (P ＜ 0.05).The carriers of rs 10181656 G allele increased the risk of URSA (OR =1.50,P ＜ 0.05).STAT4 protein expression in decidual tissues:①There was statistical difference in the STAT4 protein expression in decidual tissues between cases and controls (P ＜ 0.05).In URSA patients there was statistical difference in the STAT4 protein expression among genotype CC,CG and GG of rs10181656 locus (P ＜ 0.05).So was in normal controls (P ＜ 0.05).In genotype CC there was no difference in the STAT4 protein expression between cases and controls (P ＞ 0.05).Neither was In genotype CG and GG respectively (P all ＞ 0.05).[Conclusion] Functional polymorphisms of the rs10181656 locus could probably associate with the susceptibility of URSA via STAT4 protein expression increased by genotype G/G in maternal decidual tissue.

Association of genetic polymorphisms of STAT4, the cytotoxic T-lymphocyte antigen-4 and chromosome 9p21.3 with susceptibility to rheumatoid arthritis in Minnan population / 中华风湿病学杂志

Objective A very high prevalence of rheumatoid arthritis (RA) is observed in Minnan population in China.We aimed to explore the genetic characteristics of RA in Minnan population and genetic mechanisms of RA by studying the associations of three single nucleotide polymorphisms (SNPs) of signal transducer and activator of transcription 4 (STAT-4) (rs7574865),the cytotoxic T-lymphocyte antigen-4 (CTLA)-4 (rs3087243) and chromosome 9p21.3(rs1333049) with RA in Minnan population.Methods A case-control study of 119 RA patients and 125 normal controls from Quanzhou were enrolled.SNPs (rs7574865,rs3087243,rs1333049) were genotyped by allele-specific polymerase chain reaction (PCR) and analyzed by SPSS 18.0.x2-test was applied to compare allele and genotype frequeneies betweeen cases and controlsLogistic regression models were used to analyze the SNPs.Results The results showed the genotype distributions of STAT4 genes were significantly different between case and control groups (P＜0.01).Compared with the GT heterozygous genotype,TT and GG homozygosity carriers had a lower risk (OR=0498 and 0.300,P=0.018 and P=0.002 respectively).There was not statistical difference in genotypes and allele in CTLA-4 (rs3087243) between RA patients and healthy controls (x2=4.083,P=0.130),but compared with the AG genotyoe,GG homozygosity carriers had a lower risk on basis of statistics (OR=0.580,P=0.04).There was not statistical difference in genotypes and allele in the chromosome 9p21.3 (rs1333049) (P＞0.05),but compared with the GG genotype carriers,CC and GC genotypes carriers had a lower risk on basis of statistics (OR=0.565,P=0.0495).Conclusion Chromosome 9p21.3 (rs1333049) and CTLA-4 rs3087243 G/A may not be associated with susceptibility to RA in Minnan popula-tions.This replication study confirmes that STAT4 rs7574865 G/T polymorphism is associated with susceptibility to RA in Minnan population.

STAT4 gene polymorphism in Chinese Han systemic lupus erythematosus / 中华风湿病学杂志

Objective To explore the association between the signal transducer and activator of transcription 4 (STAT4) gene polymorphism and Chinese Han systemic lupus erythematosus patients. Methods Pyrosequencing technique was used to genotype the 3 single nucleotide polymorphisms (SNP) in the samples of patients and normal individuals. Results Not only these 3 SNPs, but also the haplotypes composed by them showed significant difference between the SLE patients and normal individuals[rs11889341:P=0.012 02, OR (95%CI)=1.22( 1.044～1.424); rs7574865:P=0.003 454, 0R(95%CI)=1.25(1.076～1.451 ); rs8179673: P=0.004 275, OR (95%CI)=1.274 (1.079～1.505)]. Conclusion rs11889341, rs7574865 and rs8179673 of STAT4 are associated with the pathogenesis of Chinese Han SLE, and the STAT4 gene is a susceptibile gene for SLE in a few racial cohorts.