Prevalence Of Mutant Genotype Research Articles

to establish associations of candidate genes ACE, AGT, AGTR1, ADRB1, ADRA2B, MTHFR and NOS3 polymorphisms with left ventricular myocardial hypertrophy (LVH) in patients with arterial hypertension (AH) among the indigenous (the Shors) and non-indigenous population of Mountain Shoria. We examined 788 people in a clinical and epidemiological study of compactly living population in the remote areas of Mountain Shoria, located in the south of Western Siberia (468 members of indigenous ethnic group [the Shors], 320 members of non-indigenous ethnic group [90% Caucasian]). Diagnosis of AH was set in accordance with recommendations of Society of Cardiology of the Russian Federation/Medical Society of the Russian Federation on the Problem of Arterial Hypertension (RMOAG) (2010). Assessment of the structural and functional state of myocardium in patients with AH (n=201 among Shors and 158 among non-indigenous residents) was made by echocardiography. The polymorphisms of genes ACE (I/D, rs 4340), АGT (c.803T>C, rs699), AGTR1 (А1166С, rs5186), ADRB1 (с.145A>G, Ser49Gly, rs1801252), ADRA2B (I/D, rs 28365031), MTHFR (c.677С>Т, Ala222Val, rs1801133) and NOS3 (VNTR, 4b/4a) were tested by PCR. Among patients with AH LVH occurred more often within the indigenous (Shor) than in non-indigenous (non-Shor) ethnic group (51.5 vs 42.2%, respectively, p=0.034). The frequency of homozygous genotype I/I of the ACE gene among AH patients with LVH in the Shor group was higher than in the non-Shor group (41.2 vs 19.3%, p=0.004). The prevalence of mutant genotype A/A of the ADRB1 gene was lower in the Shor compared to non-Shor group (53.6 vs 75.0%, p=0.014). The percentage of the carriers of prognostically favorable genotype 4b/4b of the NOS3 gene was higher in Shor than in non-Shor group (71.9 vs 52.7%, p=0.018), while the percentage of homozygous genotype 4a/4a carriers in the Shor group was lower (2.1% vs 18.2%, p=0.008). The following studied genes were found to be associated of with LVH: in the Shor cohort - the MTHFR gene (log additive model of inheritance), the A/G genotype of the ADRB1 gene (among people with normal body weight), the I/D genotype of the ACE gene (among men); in the non-indigenous cohort - D/D genotype of the ACE gene (the codominant model of inheritance), the NOS3 gene (the log additive model of inheritance).

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