ABSTRACT
Objective To study the responsible genes of psoriasis vulgaris on chromosome 1q21 in Chinese Han population.Methods Thirty-six families with psoriasis vulgaris,including 92 patients and 98 normal relatives,aged from 12 to 81 years with an average age at 44 years,were enrolled in this study.Blood samples were obtained from all the participants and subjected to DNA extraction.A genome scan was performed with eight microsatellites distributing over chromosome 1q21-1q23.1.Evidence for linkage disequilibrium was assessed with extended transmission disequilibrium test(ETDT)program and Genehunter software.Results Three short tandem repeat markers were found to be associated with psoriasis vulgaris.With Genehunter,evidence for linkage disequilibrium between D1S2345 and psoriasis was found with the NPL value being 1.735(P=0.0329).Moreover,ETDT revealed that the 97-bp allele of D1S2346 and 283-bp allele of D1S484 were preferentially delivered to affected descendants(P＜0.05).Conclusion Chromosome 1q21 contains genes associated with psoriasis vulgaris in Chinese Han population.
ABSTRACT
Objective To investigate the correlation between the disease activity and the serum levels of anti-nuclear autoantibodies against various nuclear components in the patients with systemic lupus erythematosus (SLE). Methods Two hundred and twenty five SLE patients enrolled from 2000 to 2002 were evaluated retrospectively. All patients fulfilled the ACR 1997 diagnostic criteria for SLE. The patients were divided into three groups according to the disease activity: mild group (Group A), moderate group (Group B)and severe group (Group C), as assessed with SLEDAI score. These cases were also divided into 2 groups according to the serum levels of anti-dsDNA antibody. 52 out of 225 patients were followed up further. Results ①There was no correlation between the serum level of anti-dsDNA antibody and SLEDAI score, and between the serum level of ANA and SLEDAI score in 225 patients. ②The serum level of anti-dsDNA antibody in group C was higher than that in group A or group B (P 0.05). Conclusions A positive correlation between the anti-dsDNA antibody and the disease activity was found in the severe group of SLE, but not found in the mild or moderate group. Although the renal damage was more commonly seen in those with higher level of anti-dsDNA antibody, but there is no correlation between the level of anti-dsDNA antibody and the degree of renal lesion.
ABSTRACT
Objective To investigate the association of SPRR2E gene and psoriasis vulgaris by sequencing the DNA of Chinese Han psoriatic families. Methods DNA was extracted from the peripheral blood cells of thirty-two Chinese psoriatic families. The sequence of the SPRR2E encoding region was measured by ABI377 DNA Sequencer. The linkage disequilibrium was assessed by extended transmission disequilibrium test (ETDT) and GENEHUNTER software. Results An A/G polymorphism at nucleotide 156 of the SPRR2E encoding region was identified. There were three genotypes, including AA, GG and AG. Although the single nucleotide polymorphism (SNP) did not change the encoding of amino acid, the single nucleotide polymorphism locus was associated with psoriasis vulgaris by the ETDT analyzing. The A-allele was found to be transmitted more frequently than that of the G-allele. GENEHUNTER analysis was concordant with the results of the ETDT. Conclusion A single nucleotide polymorphism (SNP) in SPRR2E gene encoding region is associated with psoriasis vulgaris in Han Chinese population.