Department of Cardiovascular Medicine, Inabe General Hospital, Inabe, Japan.
Nephrology (Carlton). 2011 Sep;16(7):642-8. doi: 10.1111/j.1440-1797.2011.01470.x.
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.
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.
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.
Our results suggest that BTN2A1 may be a susceptibility gene for CKD in Japanese individuals.
尽管最近的遗传研究表明，几种遗传变异增加了慢性肾脏病（CKD）的风险，但导致这种疾病遗传易感性的基因仍有待明确。我们通过全基因组关联研究表明，BTN2A1 的 C→T 多态性（rs6929846）和 ILF3 的 A→G 多态性（rs2569512）与日本人的心肌梗死显著相关。本研究的目的是研究这些多态性（rs6929846、rs2569512）与日本人 CKD 的可能关联。
共检查了来自两个独立人群的 7542 名日本人：受试者 A 组包括 971 名 CKD 患者（估计肾小球滤过率（eGFR）<60 mL/min 1.73 m(-2)) 和 2269 名对照者（eGFR≥60 mL/min 1.73 m(-2)）；受试者 B 组包括 1318 名 CKD 患者和 2984 名对照者。
卡方检验显示，BTN2A1 的 rs6929846，但不是 ILF3 的 rs2569512，与受试者 A 组（P=0.0383）和 B 组（P=0.0477）的 CKD 患病率显著相关。经协变量调整的多变量逻辑回归分析显示，BTN2A1 的 C→T 多态性（rs6929846）与受试者 A 组（P=0.0422；隐性模型；比值比，2.36）和 B 组（P=0.0386；显性模型；比值比，1.21）的 CKD 患病率显著相关，T 等位基因代表该疾病的风险。
我们的结果表明，BTN2A1 可能是日本人 CKD 的易感基因。
