2012Chinese Journal of DermatologyRequires access

Association of TNFSF 4 gene polymorphisms with systemic lupus erythematosus

Tingting Gao, Jiquan Song, Tauseef Ahmad, Xiang-ping Yu, Yanli Cheng, Hu Gao

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Abstract

Objective To investigate the association of two single nucleotide polymorphisms (SNPs),rs844648 and rs3850641,in OX40L (TNFSF4) gene,with systemic lupus erythematosus(SLE) in Hubei Han populations.Methods A total of 82 patients with SLE and 100 normal human controls were eligible for this study.Blood samples were obtained from these subjects and DNA was extracted from these samples.PCR-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the genotype of SNPs rs844648 and rs3850641.Results The frequency of AA,AG and GG genotype of the SNP rs844648 was 14.0%,55.0%and 31.0% respectively in the controls,20.7%,62.2% and 17.1% respectively in the patients.A higher frequency was observed for A allele at the SNP rs844648 and G allele at the SNP rs3850641 in patients compared with the normal controls [73.2% vs.69.0%%,x2 =4.69,P < 0.05,OR =2.182 (1.068 - 4.458);37.8% vs.24.0%,x2 =4.07,P < 0.05,OR =1.925 (1.015 - 3.651)].The frequency of AA,AG and GG genotype of SNP rs3850641 was 76.0%,21.0% and 3.0% respectively in the normal controls,62.2%,31.7% and 6.1% respectively in the patients.Conclusions There are polymorphisms in the SNPs rs844648 and rs3850641 in TNFSF4 gene,which may be associated with the development of SLE.

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Objective To investigate the association of two single nucleotide polymorphisms (SNPs),rs844648 and rs3850641,in OX40L (TNFSF4) gene,with systemic lupus erythematosus(SLE) in Hubei Han populations.Methods A total of 82 patients with SLE and 100 normal human controls were eligible for this study.Blood samples were obtained from these subjects and DNA was extracted from these samples.PCR-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the genotype of SNPs rs844648 and rs3850641.Results The frequency of AA,AG and GG genotype of the SNP rs844648 was 14.0%,55.0%and 31.0% respectively in the controls,20.7%,62.2% and 17.1% respectively in the patients.A higher frequency was observed for A allele at the SNP rs844648 and G allele at the SNP rs3850641 in patients compared with the normal controls [73.2% vs.69.0%%,x2 =4.69,P < 0.05,OR =2.182 (1.068 - 4.458);37.8% vs.24.0%,x2 =4.07,P < 0.05,OR =1.925 (1.015 - 3.651)].The frequency of AA,AG and GG genotype of SNP rs3850641 was 76.0%,21.0% and 3.0% respectively in the normal controls,62.2%,31.7% and 6.1% respectively in the patients.Conclusions There are polymorphisms in the SNPs rs844648 and rs3850641 in TNFSF4 gene,which may be associated with the development of SLE.

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Available abstract

Objective To investigate the association of two single nucleotide polymorphisms (SNPs),rs844648 and rs3850641,in OX40L (TNFSF4) gene,with systemic lupus erythematosus(SLE) in Hubei Han populations.Methods A total of 82 patients with SLE and 100 normal human controls were eligible for this study.Blood samples were obtained from these subjects and DNA was extracted from these samples.PCR-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the genotype of SNPs rs844648 and rs3850641.Results The frequency of AA,AG and GG genotype of the SNP rs844648 was 14.0%,55.0%and 31.0% respectively in the controls,20.7%,62.2% and 17.1% respectively in the patients.A higher frequency was observed for A allele at the SNP rs844648 and G allele at the SNP rs3850641 in patients compared with the normal controls [73.2% vs.69.0%%,x2 =4.69,P < 0.05,OR =2.182 (1.068 - 4.458);37.8% vs.24.0%,x2 =4.07,P < 0.05,OR =1.925 (1.015 - 3.651)].The frequency of AA,AG and GG genotype of SNP rs3850641 was 76.0%,21.0% and 3.0% respectively in the normal controls,62.2%,31.7% and 6.1% respectively in the patients.Conclusions There are polymorphisms in the SNPs rs844648 and rs3850641 in TNFSF4 gene,which may be associated with the development of SLE.

Key concepts: Single-nucleotide polymorphism, Genotype, SNP, Allele frequency, Allele, Genotype frequency, Restriction fragment length polymorphism, Polymorphism (computer science)

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