Barbarash О L, Voevoda М I, Artamonova G V, Mulerova Т А, Voropaeva Е N, Maksimov V N, Ogarkov М Yu
Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, Russia.
Research Institute of Internal and Preventive Medicine, Novosibirsk, Russia.
Ter Arkh. 2017;89(9):68-77. doi: 10.17116/terarkh201789968-77.
To estimate the prevalence of the genotypes of the candidate genes ACE (I/D, rs4646994), ADRB1 (Ser49Gly, A/G, rs1801252) ADRA2B (I/D), MTHFR (C677T, Ala222Val, rs1801133), and eNOS (4b/4a) and their association with hypertension in two ethnic groups of Mountain Shoria.
A clinical and epidemiological study was conducted in a population compactly living in the hard-to-reach areas of Mountain Shoria (the settlements of Orton, Ust-Kabyrza, and Sheregesh of the Kemerovo Region). A continuous method was used to survey 1178 residents from the above settlements; the sample consisted of adults (aged 18 years and older), 565 people were genotyped.
The prevalence of hypertension among the population of Mountain Shoria was 42.3%. The incidence of this disease among the Shorians was lower (39.9%) than that among the representatives of non-indigenous people (46.1%). The ethnically justified peculiarities of the association of ADRA2B and ACE I/D polymorphisms with hypertension were established. There were fewer patients with hypertension among ACE ID and ADRA2B DD genotype carriers in the cohort of the Shorians than in that of the non-indigenous population: 40.6% versus 58.6% and 38.3% versus 64%, respectively. Conversely, there were more hypertensive patients among the carriers of the homozygous ACE DD genotype in the native ethnic group (60%) than in the non-indigenous one (37.1%).
Adverse prognostic ACE DD, ADRB1 AA, MTHFR TT, and eNOS 4a/4a genotypes were more frequently observed in the non-indigenous ethnic groups; the ADRA2B DD genotype was more common in the native population. Hypertension was associated with the ACE DD, МTHFR CT, and ADRB1 AA genotypes in the native ethnic group and with the ACE ID genotype in the non-indigenous population.
评估候选基因ACE（I/D，rs4646994）、ADRB1（Ser49Gly，A/G，rs1801252）、ADRA2B（I/D）、MTHFR（C677T，Ala222Val，rs1801133）和eNOS（4b/4a）的基因型在绍里亚山区两个民族中的流行情况及其与高血压的关联。
在绍里亚山区难以到达地区紧密居住的人群（克麦罗沃州的奥尔托恩、乌斯季-卡比尔扎和舍列格什定居点）开展了一项临床和流行病学研究。采用连续抽样方法对上述定居点的1178名居民进行调查；样本包括成年人（18岁及以上），其中565人进行了基因分型。
绍里亚山区人群中高血压患病率为42.3%。绍里亚人该疾病的发病率（39.9%）低于非本地民族代表（46.1%）。确定了ADRA2B和ACE I/D多态性与高血压关联的种族特异性特点。绍里亚人队列中ACE ID和ADRA2B DD基因型携带者中的高血压患者少于非本地人群：分别为40.6% 对58.6%以及38.3% 对64%。相反，本地民族中纯合子ACE DD基因型携带者中的高血压患者（60%）多于非本地民族（37.1%）。
在非本地民族中更频繁观察到不良预后的ACE DD、ADRB1 AA、MTHFR TT和eNOS 4a/4a基因型；ADRA2B DD基因型在本地人群中更常见。在本地民族中，高血压与ACE DD、МTHFR CT和ADRB1 AA基因型相关，在非本地人群中与ACE ID基因型相关。
