Association Study of Mitochondrial DNA Haplogroup D and C5178A Polymorphisms with Chronic Kidney Disease

Objective: To explore the associations of common mitochondrial DNA polymorphisms with chronic kidney disease (CKD). Methods: Data from 286 longevous individuals aged 95 years or older from the longevity arm from the Rugao Longevity and Ageing Study (RuLAS) were used. Twenty-eight common haplogroups defined by 33 single nucleotide polymorphisms were genotyped using SNaPshot minisequencing reaction assays. The creatinine-based estimated glomerular filtration rate (eGFR) was calculated using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation. Results: The prevalence of CKD was 23.6% among the longevous participants aged 95 years and older. The D haplogroup (67.37 ± 14.72 vs. 70.65 ± 11.07, p = 0.045), the D5 haplogroup (60.86 ± 18.36 vs. 70.34 ± 11.53, p = 0.002), and the 5178A allele (67.23 ± 14.48 vs. 70.75 ± 11.10, p = 0.029) were associated with lower eGFR levels compared with noncarriers. The D5 haplogroup (13.8% vs. 3.6%, p = 0.005) was significantly higher, while D haplogroup (35.4% vs. 24%, p = 0.067) and the 5178A allele (36.9% vs. 24.9%, p = 0.056) were borderline significantly higher in CKD individuals than those without CKD. Further, after adjusting for multiple covariates, the D haplogroup, the D5 haplogroup, and the 5178A allele were associated with increased odds of CKD with odds ratios of 1.93 (95% confidence interval [CI]: 1.00-3.72, p = 0.050), 4.76 (95% CI: 1.49-15.22, p = 0.009) and 2.04 (95% CI: 1.05-3.96, p = 0.035), respectively. Conclusions: The D and D5 haplogroups, as well as the 5178A allele are associated with decreased eGFR levels and an increased risk of CKD in a longevous population.