[Association of two SNPs in 3'UTR of ETS1 gene with systemic lupus erythematosus in a northern Chinese Han population].

OBJECTIVE: To assess the association between 2 single nucleotide polymorphisms (SNPs) of ETS1 gene and susceptibility to systemic lupus erythematosus (SLE) in a northern Chinese Han population. METHODS: Two SNPs within the ETS1 gene mapped to 11q23 were selected based on HapMap data. Genotyping was conducted with Taqman method in 231 patients with SLE and 474 healthy controls from Qilu Hospital, Shandong and analyzed with PLINK1.07 software. Haplotypes were analyzed with SHEsis software. RESULTS: A statistically significant difference was detected in the distribution of rs1128334 and rs4937333 genotypes between the two groups (all P< 0.01). For rs1128334, the frequency of the minor allele was 0.291 and 0.428 in controls and cases, respectively. For rs4937333, the minor allele frequency was 0.381 and 0.476 in controls and cases respectively. An A-C haplotype was found to be strongly associated with increased risk for SLE, while another haplotype G-C may reduce this risk. CONCLUSION: Our study has suggested that rs1128334 and rs4937333 are strongly associated with the risk for SLE in northern Chinese Han population.

Two single nucleotide polymorphisms in TSLP gene are associated with asthma susceptibility in Chinese Han population.

BACKGROUND: Asthma is a chronic inflammatory disease of the airway that is mediated by T-helper 2(TH2) cells. Thymic stromal lymphopoietin (TSLP) can aggravate asthmatic lung inflammation by activating dendritic cells (DCs) to promote TH2 differentiation. TSLP promoter polymorphisms are associated with susceptibility to bronchial asthma in Japanese population. We sought to determine whether single nucleotide polymorphisms (SNPs) in TSLP gene are associated with asthma in Chinese Han population. OBJECTIVE: To analyze the polymorphism of the two SNPs Rs2289276 and Rs2289278 in TSLP gene and to evaluate the association between the two SNPs and asthma susceptibility in Chinese Han population by using case-control study. METHODS: five hundred and thirty one asthmatic patients and 540 age-sex matched normal controls were collected and DNA were extracted from peripheral blood, then the genotypes of SNPs Rs2289276 and Rs2289278 in TSLP gene were detected with polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), genotype and allele frequencies were calculated and analyzed with Chi-square test. RESULTS: Frequencies of CC/CT/TT genotypes at Rs2289276 site were 0.4706/0.4392/0.0902 in the asthmatic patients and 0.5604/0.3800/0.0595 in the healthy controls. Frequencies of CC/CG/GG genotypes at Rs2289278 site were 0.6502/0.2966/0.0532 in the asthmatic patients and 0.5795/0.3428/0.0777 in the healthy controls. The genotype and allele frequencies of the two SNPs in asthma patients were significantly different from those in the healthy controls. Rs2289278 C allele was correlated with decreased FEV(1): FVC (P ≤ .05). CONCLUSIONS: TSLP variants are significantly associated with bronchial asthma. TSLP might be a new therapeutic target molecule for asthma.

[Association study between TNFSF4 and coronary heart disease].

Previous studies suggest that TNFSF4 is a susceptibility gene of atherosclerosis. But case-control association analysis in Swedish population and German population provided inconsistent, even opposite results. In order to explore the relationship between this gene and coronary heart disease (CHD) in Chinese Han population, we collected 498 cases and 509 controls from Qilu hospital of Shandong University and analyzed the association between five single-nucleotide polymorphisms (SNPs) (rs1234314, rs45454293, rs3850641, rs1234313, and rs3861950) of TNFSF4 and CHD. On the basis of using traditional statistical analysis methods based on single SNP and haplotypes, we introduced principal component score-based logistic regression analysis to deal with the data. The results suggested that in Armitage trend test, only rs3861950 was significant, when used the Bonferroni correction, and all of the five SNPs were not statistically significant. In the logistic regression analysis which adjusts the confounding factors, all of the five SNPs were not statistically significant. In haplotype analysis, the frequencies of six haplotypes were significantly different in cases and controls (CTAGT (P=0.0006), CTAAC (P=0.0123), CCAGT (P=0.0004), GTGGT (P=0.0329), GCGAC (P<0.0001), and GCAAC (P=0.0173)). In principal component score-based logistic regression analysis, the first principal component has statistical significance (P=0.0236). These results indicate that TNFSF4 is a susceptibility gene of CHD in Chinese Han population.