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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Related Experiment Video

Updated: Jul 11, 2026

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Association Between TNF-α Promoter -308 A/G Polymorphism and Systemic Lupus Erythematosus Susceptibility: A

Z-C Yang1, F Xu1, M Tang1

  • 1Department of Rheumatology and Immunology, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.

Scandinavian Journal of Immunology
|December 13, 2016
PubMed
Summary

The tumour necrosis factor-α (TNF-α) -308 A allele is linked to a higher risk of systemic lupus erythematosus (SLE) and lupus nephritis (LN). This finding is supported by a case-control study and a meta-analysis of multiple studies.

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Area of Science:

  • Immunogenetics
  • Rheumatology
  • Genetic Epidemiology

Background:

  • The tumour necrosis factor-α (TNF-α) promoter -308 A/G polymorphism is implicated in systemic lupus erythematosus (SLE) aetiology.
  • Previous studies on the association between TNF-α -308 A/G and SLE risk have yielded inconsistent results.

Purpose of the Study:

  • To investigate the association between the TNF-α -308 A/G polymorphism and SLE risk in a Chinese Han population.
  • To conduct a meta-analysis combining new and existing studies to clarify the relationship between TNF-α -308 A/G and SLE risk.
  • To explore the correlation between this polymorphism and lupus nephritis (LN) risk.

Main Methods:

  • A case-control study was performed with 556 SLE patients and 570 healthy controls.
  • A meta-analysis was conducted, including the current study and 41 previous comparative studies (4799 SLE patients, 6635 controls).

Main Results:

  • The TNF-α -308 A allele was significantly more prevalent in SLE patients compared to controls (OR = 2.184).
  • Genotypes AA and AG, and the dominant model (AA+AG vs. GG), were associated with SLE susceptibility.
  • The meta-analysis confirmed a significant association between allele A and SLE risk (OR = 1.70).
  • Allele A was also significantly associated with an increased risk of lupus nephritis (LN) (OR = 1.80).

Conclusions:

  • The TNF-α -308 A allele is significantly associated with an increased risk of developing SLE.
  • The TNF-α -308 A allele is also significantly associated with an increased risk of lupus nephritis (LN).
  • These findings highlight the role of TNF-α genetic variations in SLE pathogenesis.