A PTPN22 promoter polymorphism -1123G>C is associated with RA pathogenesis in Chinese.

The minor allele of the non-synonymous single nucleotide polymorphism (SNP) +1858C>T within the PTPN22 gene has now been unequivocally confirmed as conferring susceptibility to RA in population from Europe and America, but not in population from Asia. The aim of this study was to jointly address and integrate these separate findings to further elucidate the association between the PTPN22 gene and RA in Chinese Hans of Guangdong province. Four hundred and ninety-four cases with RA and 496 healthy controls were randomly selected, their SNPs at position -1123G>C (rs2488457), +1858C>T (rs2476601), +788G>A (rs33996649), and rs1310182 were genotyped using PCR-RFLP, followed by agarose gel electrophoresis. +1858C>T (rs2476601) and +788G>A (rs33996649) are not polymorphic in Chinese Hans. Meanwhile, our result reveals that the degree of association between the promoter polymorphism, -1123G>C and RA, was analogous to that observed in Japanese reports (odds ratio [OR] = 1.517, 95% CI = [1.154-1.995], P = 0.003). Expression study also indicated a tendency for association between -1123G>C and PTPN22 gene expression. Our study underpins that the promoter polymorphism, -1123G/C, may be a causal SNP for RA in Asian.

A rapid and accurate DHPLC assay for determination of apolipoprotein E genotypes.

The variants of apolipoprotein E (apoE) are closely related to hyperlipidemia III, Alzheimer's disease (AD), coronary artery disease (CAD) and many other human lipid metabolism-related problems. A rapid and accurate genotyping method specific for polymorphisms of the APOE gene is needed for population screening as well as diagnosis of apoE-related diseases in both the research and clinical setting. A polymerase chain reaction (PCR) method was designed to generate a 191-bp amplicon, which contains two common polymorphisms located in codons 112 and 158 of exon 4 of the APOE gene. The PCR amplicons for each sample were subjected to denaturing high-performance liquid chromatography (DHPLC) analysis, which was performed under partially denaturing conditions as determined by profiling the mixture of a tested sample and a homozygous standard control amplicon at the given ratio. A total of 297 DNA samples from Chinese population were enrolled to evaluate the specificity of the assay. A blinded validation study was then performed on 130 samples randomly selected from each of the six genotype groups as determined by DHPLC profiling. The genotypes obtained with the DHPLC method were in full agreement with those obtained by direct sequencing (130/130). We have developed a PCR/DHPLC genotyping assay capable of simultaneously determining all six genotypes of APOE gene in unknown test samples at one time.

[Prognostic value of changes of peripheral blood T cell subsets after thermoradiotherapy for nasopharyngeal carcinoma].

OBJECTIVE: To assess the prognostic value of changes of peripheral blood T cell subsets after thermoradiotherapy for nasopharyngeal carcinoma (NPC). METHODS: Peripheral blood T cell subsets in 20 normal subjects (control group), 30 NPC patients undergoing thermoradiotherapy, and 20 NPC patients undergoing radiotherapy were detected by flow cytometry. RESULTS: The percentages of CD3+CD4+ and CD8+CD28+ cells were decreased and the percentages of CD3+CD8+ and CD8+CD28- cells increased as compared with the measurements in normal persons. One month after thermoradiotherapy, the percentages of CD3+CD4+ and CD8+CD28+ cells further decreased and the percentages of CD3+CD8+ and CD8+CD28- cells further increased, which continued to worsen 3 months after the treatment and appeared to be related to the survival of the patients. CONCLUSION: T cell subsets of NPC patients are abnormal and their immune functions depressed in NPC patients within a long period after thermoradiotherapy. CD8+CD28+ and CD8+CD28- T cell subsets can be significant for prognostic assessment in these patients after thermoradiotherapy.