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• W2391692425 abstract "Objective To approach the association of two single nucleotide polymorphisms (SNPs) within the exon-5 of programmed cell death-1 (PDCD1) gene and the development of systemic lupus erythematosus(SLE) in Southern Chinese Han people. Methods 132 cases and 160 normal controls were enrolled with the aim of case-control design, and SNPs of PD1.6GA and PD1.5CT were genotyped by PCR-RFLP.Moreover, we calculated ORs and LD as well as the frequencies of haplotypes for the two loci. Results It was found that mutated AA genotype frequency of PD1.6GA in controls was significantly higher than the one in cases (χ2= 5.123, P=0.023), and the frequency with A alleles in patients was significantly decreased relative to the one in healthy controls (χ2=8.036, P=0.005). In PD1.5CT, CT frequency in controls was lower than the one in cases with statistically significance (χ2=15.380, P=0.000), and the carrier frequency of T allele in cases was significantly increased compared with controls (χ2=11.631, P=0.001). Moreover, there were linkage disequilibriums between alleles of PD1.6GA and PD1.5 CT (χ2=10.708, P=0.001). The haplotype distributions between cases and controls were significantly different in PDCD1(χ2=18.821, P=0.000), with relative higher proportion of A-T and G-T haplotypes (χ2=4.119, P=0.042; χ2=6.621, P=0.010) and less proportion of A-C haplotype (χ2=15.812, P=0.000) in SLE group. Conclusions The polymorphisms of PD1.6GA and PD1.5CT were associated with SLE in Southern Chinese Han people. The mutation of GA in PD1.6GA might be protective from SLE (OR = 0.57, 95% CI: 0.39-0.84), while the CT mutation in PD1.5CT might be harmful (OR=2.02, 95% CI: 1.35-3.02). The haplotypes of A-T and G-T might be susceptible to SLE (OR=1.50, 95% CI: 1.02-2.46 and OR=3.02, 95% CI: 1.30-7.02), and the A-C haplotype might play a protective role in development of SLE (OR=0.51, 95% CI: 0.36-0.71)." @default.
• W2391692425 created "2016-06-24" @default.
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• W2391692425 date "2008-01-01" @default.
• W2391692425 modified "2023-09-23" @default.
• W2391692425 title "Association of two single nucleotide polymorphisms within the exon-5 of programmed cell death-1 gene and the development of systemic lupus erythematosus in Southern Chinese Han people" @default.
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