Open AccessFrequency of genetic polymorphism of calcium channels gene CACNA1C in healthy individuals and patients with arterial hypertension
Author(s) -
B.S. Pushkarev,
Пушкарёв Борис Сергеевич,
O. V. Bol’shakova,
Большакова Ольга Валерьевна,
T V Sibiryakova,
Сибирякова Татьяна Владимировна,
A.S. Emelyanov,
Емельянов Артур Сергоевич,
А. Н. Герасимов,
Герасимов Александр Александрович,
Yu.A. Vitkovsky,
Витковский Юрий Антонович
Publication year - 2017
Publication title -
kazanskij medicinskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2587-9359
pISSN - 0368-4814
DOI - 10.17750/kmj2017-359
Subject(s) - genotype , allele , essential hypertension , allele frequency , snp , medicine , genotype frequency , polymorphism (computer science) , gastroenterology , single nucleotide polymorphism , endocrinology , genetics , gene , biology , blood pressure
Aim. To determine the frequency of polymorphism of calcium channels gene CACNA1C (rs1006737) in healthy individuals and patients with hypertension.
Methods. 94 patients with arterial hypertension and 102 healthy residents were examined. The age ranged from 18 to 35 years. Detection of SNP calcium channel genes CACNA1C (rs1006737) was performed by real time PCR. Checking of sampling genotypes’ for being in Hardy-Weinberg equilibrium and χ2-test were performed, and hazards ratio (OR) was evaluated as well.
Results. It was established that allele G of CACNA1C gene (rs1006737) was 1,3 times less frequent in patients with hypertension compared to control group, and its frequency was 0.58 vs. 0.76, respectively (χ2=14.42, р=0.0001). In patients with hypertension allele A was detected 1.75 times more often with the frequency 0.42, and in healthy individuals the frequency was 0.24 (χ2=14.42, р=0.0001). Use of general inheritance model demonstrated that G/G genotype was 1.5 times less frequent and A/A genotype was 3.2 times more frequent in patients with hypertension than in healthy individuals (χ2=12.75, р=0.002). The risk of hypertension development was higher in carriers of allele A (HR=2.3, 95% CI 1.49-3.53, p=0.0001) and genotype A/A (HR=3.9, 95% CI 1.49-9.68, p=0.002) of SNP gene of CACNA1C molecule (rs1006737).
Conclusion. Allele A and genotype A/A SNP CACNA1C (rs1006737) are predisposing factors to the development of arterial hypertension, carriership of G allele and genotype G/G CACNA1C (rs1006737) reduces the risk of hypertension development.