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Background/Aims:   Hypertension or persistent high blood pressure (BP) is a leading cause of death worldwide. Extensive evidence indicates that the thiazide-sensitive Na<sup>+</sup>-Cl<sup>-</sup> cotrans-porter (NCC) affects BP via regulation of renal sodium reabsorption. However, the relationship between genetic variants of the NCC-encoding  SLC12A3  gene and hypertension in the Mongolian population is still ambiguous. In this study, we aimed to genotype an extended cohort of hypertensive Mongolian families for polymorphisms in the  SLC12A3  locus.   Methods:   Eighty-eight families with a history of hypertension, including parents, offspring, and relatives underwent clinical testing. Family-based association tests and haplotype analysis were used to evaluate the association between hypertension and polymorphisms in the  SLC12A3  locus.   Results   :  We identified three single nucleotide polymorphisms (SNPs), one in the  SLC12A3  coding region ( p  = 0.05) and two in the intron ( p  = 0.02 and  p  = 0.07), which were significantly associated with the hypertension phenotype. Haplotype-specific association tests confirmed the correlation of these SNPs with hypertension ( p  < 0.05).   Conclusion:   These results suggest that SNPs in the  SLC12A3  gene confer susceptibility to hypertension in the Mongolian population. Further research is needed to validate the functional role of  SLC12A3  polymorphisms in hypertension.

kidney and blood pressure research

Polymorphisms in the   SLC12A3   Gene Encoding Sodium-Chloride Cotransporter are Associated with Hypertension: A Family-Based Study in the Mongolian Population