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The I550V polymorphism in the renal human sodium/dicarboxylate cotransporter 1 (hNaDC-1) gene is associated with the risk for urolithiasis in adults from Southeastern, Mexico

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Author(s): Martha Medina-Escobedo | Diana Franco-Bocanegra | Salha Villanueva-Jorge | Lizbeth González-Herrera

Journal: Open Journal of Genetics
ISSN 2162-4453

Volume: 03;
Issue: 02;
Start page: 59;
Date: 2013;
Original page

Keywords: Hypocitraturia | hNaDC-1 | Urolithiasis | Mexico | Yucatan

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.
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