Association of a Genetic Variant of BTN2A1 With Chronic Kidney Disease in Japanese Individuals

Nephrology (Carlton). 2011 Sep;16(7):642-8. doi: 10.1111/j.1440-1797.2011.01470.x.


Aim: Although recent genetic studies suggested that several genetic variants increase the risk for chronic kidney disease (CKD), the genes that underlie genetic susceptibility to this condition remain to be identified definitively. We showed that the C→T polymorphism (rs6929846) of BTN2A1 and A→G polymorphism (rs2569512) of ILF3 were significantly associated with myocardial infarction in Japanese individuals by a genome-wide association study. The purpose of the present study was to examine a possible association of these polymorphisms (rs6929846, rs2569512) with CKD in Japanese individuals.

Methods: A total of 7542 Japanese individuals from two independent populations were examined: Subject panel A comprised 971 individuals with CKD (estimated glomerular filtration rate (eGFR) <60 mL/min 1.73 m(-2)) ) and 2269 controls (eGFR ≥60 mL/min 1.73 m(-2) ); and subject panel B comprised 1318 individuals with CKD and 2984 controls.

Results: The χ(2) test revealed that rs6929846 of BTN2A1, but not rs2569512 of ILF3, was significantly related to the prevalence of CKD both in subject panels A (P = 0.0383) and B (P = 0.0477). Multivariable logistic regression analysis with adjustment for covariates revealed that the C→T polymorphism (rs6929846) of BTN2A1 was significantly associated with the prevalence of CKD in subject panels A (P = 0.0422; recessive model; odds ratio, 2.36) and B (P = 0.0386; dominant model; odds ratio, 1.21) with the T allele representing a risk for this condition.

Conclusion: Our results suggest that BTN2A1 may be a susceptibility gene for CKD in Japanese individuals.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asian Continental Ancestry Group / genetics*
  • Butyrophilins
  • Case-Control Studies
  • Chi-Square Distribution
  • Chronic Disease
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Glomerular Filtration Rate / genetics*
  • Humans
  • Japan / epidemiology
  • Kidney / physiopathology*
  • Kidney Diseases / ethnology
  • Kidney Diseases / genetics*
  • Kidney Diseases / physiopathology
  • Logistic Models
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Nuclear Factor 90 Proteins / genetics
  • Odds Ratio
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Risk Assessment
  • Risk Factors


  • Butyrophilins
  • ILF3 protein, human
  • Membrane Glycoproteins
  • Nuclear Factor 90 Proteins