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

Cell Physiol Biochem. 2015;35(4):1394-400. doi: 10.1159/000373960. Epub 2015 Mar 12.

Abstract

BACKGROUND &AIM: Previous studies have suggested genetic factors are involved in the development of gout. We performed a case-control study to investigate the genetic association between CARD8 rs2043211 polymorphism and gout.

Methods: A total of 396 male patients with gout and 403 age- and sex- matched healthy controls were included in this study. Genotyping was performed using TaqMan SNP Genotyping Assays. An association analysis was carried out using the χ² test. The genotype-phenotype analysis was also conducted.

Results: The genotype distribution of CARD8 rs2043211 polymorphism confirmed to HWE in the controls (P = 0.27). There was an obvious difference in the genotype distribution of CARD8 rs2043211 polymorphism between cases and controls (P = 0.017). In addition, there was an obvious association between CARD8 rs2043211 polymorphism and gout under the recessive comparison model (AA vs.

Tt/ta: OR = 0.65, 95%CI 0.47-0.88, P = 0.006). Patients carrying genotype TT of CARD8 rs2043211 polymorphism had higher triglycerides levels compared to those carrying the AA genotype (2.77±2.08 mmol/L vs. 2.07±1.15 mmol/L, P = 0.01). Patients with the TT genotype also had significantly higher systolic blood pressure compared with those with the AA genotype (142.11±21.10 mmHg vs. 135.38±14.66 mmHg, P = 0.03). Patients carrying TT genotype also had an increased risk of renal calculus compared with those carrying the AA genotype.

Conclusion: CARD8 rs2043211 polymorphism is significantly associated with susceptibility to gout in Chinese Han males.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Asian People / genetics*
  • Blood Pressure
  • CARD Signaling Adaptor Proteins / genetics*
  • Case-Control Studies
  • China
  • Demography
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Gout / genetics*
  • Gout / pathology
  • Humans
  • Kidney Calculi / etiology
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Triglycerides / blood

Substances

  • CARD Signaling Adaptor Proteins
  • CARD8 protein, human
  • Neoplasm Proteins
  • Triglycerides