Key result
SLC12A3 gene polymorphisms show no significant association with essential hypertension.
Why the study?
The involvement of the SLC12A3 gene, causal for Gitelman's syndrome, in mediating blood pressure levels in essential hypertension was investigated.
Are single nucleotide polymorphisms in the SLC12A3 gene associated with essential hypertension in Japanese individuals?
Case-Control (n=620)
No
Are single nucleotide polymorphisms in the SLC12A3 gene associated with essential hypertension in Japanese individuals?
The SLC12A3 gene, which is causal for Gitelman's syndrome, does not appear to be involved in determining blood pressure levels or essential hypertension in the Japanese population.
SLC12A3 SNPs were not associated with essential hypertension; leaves open other genetic contributors in Japanese populations.
BACKGROUND: Gitelman's syndrome is an inherited tubular disorder characterized by sodium wasting, low blood pressure, secondary hyperaldosteronism, metabolic alkalosis, hypokalemia, hypomagnesemia of renal origin, and hypocalciuria. The majority of patients with this syndrome carry inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive Na (+)-Cl (-) cotransporter (NCC) located in the distal convoluted tubule, which is involved in renal sodium reabsorption. This suggests that the SLC12A3 gene is involved in mediation of blood pressure levels. The aim of the present study was to investigate relationships between single nucleotide polymorphisms (SNPs) in the human SLC12A3 gene and essential hypertension (EH) in Japanese. METHOD: We selected 3 SNPs in the human SLC12A3 gene (T180K, A569V, L849H), and performed a case-control study of 315 EH patients and 305 normotensive (NT) individuals. RESULTS: There was no significant difference in overall distribution of genotypes or alleles of any of the SNPs between the EH and NT groups. CONCLUSION: We conclude that the causal gene of Gitelman's syndrome is not involved in determining blood pressure levels.
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Aoi et al. (2008) conducted a case-control in Essential hypertension (n=620). SLC12A3 gene single nucleotide polymorphisms (T180K, A569V, L849H) vs. Normotensive controls was evaluated on Distribution of SLC12A3 genotypes and alleles (p=n.s.). Single nucleotide polymorphisms in the SLC12A3 gene (T180K, A569V, L849H) showed no significant difference in genotype or allele distribution between patients with essential hypertension and normotensive controls.
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