ABSTRACT
Objective To investigate two single nucleotide polymorphism sites of IRF5 and to de-tect their relationship with SLE in a population from Shandong province. Methods The polymorphisms (rs2004640 G/T,rs10954213 G/A) were detected with PCR-RFLP in 92 eases of SLE and 88 healthy con-trols. The genotype and allele frequencies were calculated and analyzed. Results The genotype frequencies Of GG, GT and TT in rs2004640 site in SLE were 0. 198, 0.521 and 0.281, respectively. The difference was significant between SLE and centrol (X2 = 8.73, P < 0.05). The genotype frequencies of GG, GA and AA in rs10954213 site in SLE were 0. 318, 0. 409 and 0.273, respectively. The differenee was significant between SLE and control (X2 = 6. 36, P < 0. 05). Conclusion The polymorphism of rs2004640, rs10954213 in IRF5 may be associated with SLE in the population of Han nationality from Shandong province of China.
ABSTRACT
Objective To study the function of 4 different haplotypes cDNA which are constructed by two non-homonymy single nueleotide polymorphism (SNP) sites C19170G (Leu45Val) and C30799G (Ala500Gly) in the coding region of human CⅡTA gene. Methods HeLa cells were transfeeted with eu-karyotic expression vectors containing four different haplotypes cDNA. C Ⅱ TA mRNA and HLA classⅡanti-gen (HLA-DR, DP, DQ) were respectively detected by RT-PCR and indirect cell immunofluoreseence tech-nique in the untransfected and transfeeted with four eukaryotic expression vectors and empty vectors HeLa cells. The quantity of HLA classⅡ antigen were analyzed by flow eytometry. Results No expression of CⅡTA mRNA and HLA class Ⅱ antigen were observed on original HeLa cells and empty vector transfected cells. CⅡTA mRNA expression was emerged, and the expression of HLA class Ⅱ antigen were observed in the HeLa cells transfected with eukaryotic expression vectors containing four different haplotypes cDNA. And there were not significantly different with the levels of HLA class Ⅱ antigen expression among HeLa cells transfected with eukaryotic expression vectors containing four different haplotypes cDNA ( P > 0.05 ). Con-dusion The SNP of Chinese at the sites C19170G(Leu45Val) and C30799G(Ala500Gly) in the coding site of C Ⅱ TA gene did not influence capability of CⅡTA trans-aetivating HLA class Ⅱgene expression.
ABSTRACT
Objective To investigate the association of PGC-1 α gene single nucleotide polymorphisms (SNPs) with type 2 diabetes mellitus in Southern China Han population. Methods 350 patients with type 2 diabetes mellitus and their parents and 366 normal Han volunteers were recruited in the study. Their blood specimens were collected to extract the genornic DNA. Thr394Thr(G/A), Gly482Ser(G/A), Thr528Thr(A/G) and Thr612Met (C/T) genotypes were identified by PCR-RFLP and DNA direct sequencing. The possible association was analyzed between diabetic patients with the specific cSNPs and their haplotypes by case-control and haplotype relative risk (HRR) and transmission disequilibrium test (TDT) methods. Results (1) The case- control study indicated that G and A allele frequencies of PGC-1 α gene Gly482Ser variant were 0.589, 0.411 in type 2 diabetic group and 0.687, 0.313 in normal group respectively (X<'2> = 15.076, P < 0.01). The allele frequencies of Thr394Thr, Thr528Thr, Thr612Met polymorphisms did not show significant difference between twogroups respectively (all P > 0.05). The distributions of Thr394Thr-Gly482Ser-Thr528Thr haplotypes in the diabetic group were significanly different from the controls (X<'2> = 40.2, P < 0.05) and had a linkage disequilibrium with type 2 diabetes mellitus (t = 2.503, P < 0.05). (2) The family-basod studies showed that 482A allele was transmitted more significantly both via TDT and extended TDT from heterozygous parents to patients than expected respectively (all P < 0.05). HRR also supported that the 482A allele was more often transmitted to patients than predicted by chance (X<'2> = 7.217, P = 0.007, HRR = 1. 450). TDT analyses of haplotypes suggested that the frequencies of 394A-482A-528A-612C,394A-482A-528A-612T, 394A-482A-528G-612C and 394A-482A-528G- 612T haplotypes significantly deviated from 0.5 (P < 0.05 or P < 0.01). Conclusion In Southern China Hanpopulation, type 2 diabetes mellitus is associated with the Gly482Ser variant of PGC-1α gene, and Thr394Thr (G/ A) variant of PGC-1α gene appears to play an auxiliary role in this association.