The<i> I</i>550<i>V</i> polymorphism in the renal human sodium/dicarboxylate cotransporter 1 (<i>hNaDC</i>-1) gene is associated with the risk for urolithiasis in adults from Southeastern, Mexico

Abstract

Urolithiasis (UL) is an endemic disease in Southeastern, Mexico. In order to evaluate the association of I550V polymorphism in the hNaDC-1 gene with risk for hypocitraturia and/or for UL; 139 adults with UL and 132 adults without UL, were included under a case-control association study. Citrate levels in 24-h urine were quantified (citraturia). The polymorphism I550V-hNaDC-1 was determined by PCR-RFLP. Statistical analysis was performed using the STATA10.2 software. Comparison of genotype and allele frequencies between subjects with and without UL showed significant differences for genotype bb (OR = 2.34, CI: 1.19 -4.59, p = 0.01) and for allele b (OR = 1.62, CI: 1.15 -2.28, p = 0.005), suggesting an association with the risk for UL. Comparison of genotype and allele frequencies between subjects with hypocitraturia and subjects with normocitraturia, did not show any significant difference (p > 0.05), suggesting that this polymorphism is not associated with the risk of hypocitraturia. Interestingly, the risk for UL was increased due to an additive effect of hypocitraturia with the genotype bb (OR = 6.6, CI: 2.38 -18.28, p = 0.0002) or with the allele b (OR: 4.2, CI = 2.52 -6.97, p < 0.0001) in the studied population.

Prognostic Factors for Residual Lithiasis in Patients With Staghorn Calculi Undergoing Percutaneous Nephrolithotomy in the Maya Region of Yucatan, Mexico: A Case-Control Study

“…In Mexico, Yucatan stands out with rates exceeding double the national average, with reports indicating that 5.8 out of every 10,000 inhabitants are affected, making it the first place in prevalence [6]. This increased prevalence is attributed to the significant incidence of metabolic abnormalities in the Maya population, with hypocitraturia being the predominant condition in both adults (61.9%) and children (35.8%) [7]. Specifically, staghorn calculi entail significant morbidity and mortality worldwide, as it can result in mortality rates of up to 28% in untreated cases [8].…”