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CARD8 rs2043211 polymorphism is associated with gout in a Chinese male population

Ying Chen1, Xianfeng Ren, Changgui Li

  • 1Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, China.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
|March 21, 2015
PubMed

Insights

Genetic factors influence gout development. This study found a significant association between the CARD8 rs2043211 polymorphism and gout susceptibility in Chinese Han males, impacting triglyceride levels and blood pressure.

Area of Science:

  • Genetics
  • Rheumatology
  • Molecular Biology

Background:

  • Gout is a complex disease with suspected genetic underpinnings.
  • Previous research indicates a role for genetic factors in gout pathogenesis.
  • The CARD8 rs2043211 polymorphism is a candidate gene for investigation.

Purpose of the Study:

  • To investigate the genetic association between the CARD8 rs2043211 polymorphism and gout.
  • To explore genotype-phenotype correlations in relation to gout.

Main Methods:

  • A case-control study involving 396 male gout patients and 403 healthy controls.
  • Genotyping performed using TaqMan SNP Genotyping Assays.
  • Association analysis conducted using the chi-squared test and genotype-phenotype analysis.

Main Results:

  • The CARD8 rs2043211 polymorphism genotype distribution was in Hardy-Weinberg equilibrium in controls (P = 0.27).
  • A significant difference in genotype distribution was observed between gout cases and controls (P = 0.017).
  • The CARD8 rs2043211 polymorphism was significantly associated with gout under a recessive model (OR = 0.65, 95%CI 0.47-0.88, P = 0.006).
  • Carriers of the TT genotype exhibited higher triglyceride levels, elevated systolic blood pressure, and an increased risk of renal calculus compared to AA genotype carriers.

Conclusions:

  • The CARD8 rs2043211 polymorphism is significantly associated with gout susceptibility in Chinese Han males.
  • This polymorphism may influence metabolic and clinical features associated with gout.

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