Association of Genetic Markers in Hypertensive Disease in Siberian Population

Maximov, VN; П.П.Орлов,; Malyutina, S.; Mazdorova, EV; YuP, Nikitin; Voevoda, М.I.

doi:10.15829/1560-4071-2014-10-73-76

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…(11)(12)(13)(14)(15)(16) The Russian study, which included 514 patients, found an association of the G allele with the risk for developing hypertension in men, with an odds ratio of 1.95 (P=0.003). (17) However, a number of studies did not find a reliable association of AG and GG genotypes with AH. (18)(19)(20)(21)(22) In Group 1 patients with AH, the average level of SBP in carriers of AA, AG and GG genotypes was 159.72±1.92 mmHg, 161.72±1.40 mmHg and 173.53±3.62 mmHg, respectively (F=6.6763, P=0.0016).…”

Section: Genotypementioning

confidence: 99%

Association of the AGT Gene M235T (rs699) Polymorphism with Arterial Hypertension and Metabolic Risk Factors in the Indigenous People of Yakutia

Sofronova¹,

Kirillina²,

Kononova³

et al. 2019

IJBM

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The research objective was to study the association of the AGT rs699 missense SNP with arterial hypertension (AH) and metabolic risk factors among indigenous people of the Arctic territory of Yakutia. The obtained data show that representatives of indigenous people of the Arctic territory of Yakutia with the homozygous GG genotype for the AGT SNP rs699 are characterized by high levels of systolic blood pressure. The carriage of the GG genotype in AH patients is associated with a high frequency of hypo-HDL cholesterolemia. The carriage of GG genotype in AH patients, compared to subjects without AH, is characterized by higher blood levels of total cholesterol, LDL-C, and triglycerides and is associated with a high frequency of abdominal obesity. Thus, the AGT rs699 missense SNP was found to be associated with metabolic risk factors in indigenous AH persons of the Arctic territory of Yakutia.

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Section: Genotypementioning

confidence: 99%

Association of the AGT Gene M235T (rs699) Polymorphism with Arterial Hypertension and Metabolic Risk Factors in the Indigenous People of Yakutia

Sofronova¹,

Kirillina²,

Kononova³

et al. 2019

IJBM

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“…Настоящая работа является второй частью публикации результатов исследования [10] и включает анализ по 8 маркерам.…”

Section: The Association Of Blood Pressure and Hypertension With Geneunclassified

The association of blood pressure and hypertension with genetic markers identified in genome-wide association studies

Малютина¹,

Максимов²,

Орлов³

et al. 2018

Russ J Cardiol

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Генетически детерминированная предрасположенность к артериальной гипертензии (АГ) и регуляции артериального давления (АД) интенсивно изучается в полногеномных ассоциативных исследованиях (GWAS). Результаты GWAS требуют репликации на независимых выборках. Цель. Изучение в российской популяционной выборке ассоциаций АД и АГ с полиморфизмом генетических маркеров, идентифицированных в GWAS. Материал и методы. В дизайне "случай-контроль" мы рекрутировали лиц с АГ, установленной до 50 лет по критериям АД ≥140/90 мм рт.ст. и/или принимающих гипотензивную терапию, и лиц с "нормальным" АД по данным двух обследований из популяционной выборки, Новосибирск. Всего включено 514 мужчин/женщин, 45-69 лет. По материалам GWAS были отобраны 24 маркера гипертензии, настоящий анализ выполнен по 8 маркерам (rs13082711, rs1173771, rs13107325, rs3918226, rs1799945, rs805303, rs1458038, rs932764). Использовали стандартизованные эпидемиологические методы исследования (измерение АД, антропометрия, медицинская история АГ и лечения, факторы риска АГ, социально-демографические параметры). Однонуклеотидные полиморфизмы (ОНП) тестировали с помощью ПЦР в реальном времени. Результаты. В исследованной выборке реплицирована ассоциация полиморфизма rs3918226 промотора гена эндотелиальной NO-синтазы (eNOS) с уровнем систолического АД (мужчины, носители Т-аллеля, имели систолическое АД на 9 мм рт.ст. выше против генотипа CC, p=0,049 независимо от возраста). Выявлена новая ассоциация полиморфизма rs932764 гена фосфолипазы С-эпсилон изоформы (PLCE1) с АГ (протективный характер генотипа AG у мужчин, p=0,017 независимо от возраста и массы тела). Подтверждена ассоциация полиморфизма rs13107325 гена расторимого носителя семейства 39/ транпортера Zn/член 8 (SLC39A8) с систолическим АД (у мужчин, носителей С-аллеля, показатели систолического АД были выше против генотипа TT, p=0,044 в мультивариантном анализе). Заключение. В анализе связи фенотипов АД и АГ с 8 генетическими маркерами в российской популяционной выборке реплицированы две известные ассоциации, выявлена новая ассоциация и получены данные по модулирующему эффекту пола и массы тела. Эти связи в сибирской популяции, отличной от ранее исследованных популяций по профилю факторов риска, климато-географическим и другим параметрам, предполагают вовлеченность идентифицированных или близких локусов в механизмы предрасположенности к АГ.

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Analysis of associations of hypertension with 16 genetic markers selected according to genome-wide studies

et al. 2022

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The multifactorial genesis of hypertension (HTN) enforced the investigation of genetically determined component of its etiopathogenesis in various populations.The aim of present work is to assess the associations between blood pressure (BP) and HTN and polymorphism of a number of genetic markers identified according to GWAS data, in a case-control study based on Siberian population cohort. Design and methods. Design of the work—case-control study in the groups aged 45–69 years old based on a caucasoid population cohort (Novosibirsk). The group of cases included HTN subjects with established diagnosis of HTN under the age of 50 (n = 346)). The control included subjects matched by sex and age to cases, and having at least 2 examinations (6 months apart) with BP levels not exceeding “normal” BP by ESH, 2018 (n = 168). A total of 514 people were included in the analysis. We used standardized epidemiological methods to assess HTN and cardiovascular diseases. Single nucleotide polymorphisms (SNPs) were tested using real-time PCR (ABI 7900HT). The analysis included 16 markers identified in GWAS studies (rs11646213, rs17367504, rs11191548, rs12946454, rs16998073, rs1530440, rs653178, rs1378942, rs1004467, rs381815, rs2681492, rs2681472, rs3184504, rs2384550, rs6495122, rs6773957).Results. For the polymorphism rs1378942 of cytoplasmic tyrosine kinase gene (CSK), in a multivariable-adjusted logistic regression, the carriers of the AC/CC vs. AA genotypes had odds ratio (OR) of HTN of 1,51 (p = 0,043) independent of age and sex; this excess risk was partly explained by the impact of body mass index (BMI). With respect to the quantitative phenotype, women carrying the AA genotype had diastolic BP (DBP) value 5 mm Hg lower than carriers of AC/CC genotypes (p = 0,026). In a multivariable-adjusted analysis, the polymorphism rs653178 of ataxin 2 gene (ATXN2) was associated with HTN independent of age and BMI (СС vs ТТ/ТС; OR = 0,61; p = 0,022); this relationship was realized due to the contribution of men (p = 0,027). With respect to the quantitative phenotype, in the multivariable analysis, the carriers of СС genotype had DBP value lower than those with ТТ/ТС (p = 0,022) independent of age and BMI, and due to the contribution of men. In a multivariableadjusted analysis, the polymorphism rs6773957 of adiponectin gene (ADIPOQ) was associated with HTN in women regardless of age and BMI (GG v. AA/AG; OR = 0,29; p = 0,001). In unadjusted analysis, we found the association between polymorphism rs2384550 of T box transcription factor gene (TBX3) and the level of systolic BP (SBP) in men (p = 0,043); when comparing homozygous groups, the level of SBP was significantly higher among carriers of the AA genotype versus GG (p = 0,013), but this association was attenuated to insignificant in in a multivariate analysis.Conclusions. In a case-control study based on Siberian population sample, we found the associations between qualitative and quantitative phenotypes of BP/HTN and polymorphism of 4 SNPs (CSK, ATXN2, ADIPOQ, TBX3 genes). Our data replicated a number of positive results obtained in genomewide studies, and we obtained the evidence of new associations not previously convincingly shown, and of the context dependency of the association between HTN and a number of molecular markers.

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Association of Genetic Markers in Hypertensive Disease in Siberian Population

Cited by 3 publications

References 7 publications

Association of the AGT Gene M235T (rs699) Polymorphism with Arterial Hypertension and Metabolic Risk Factors in the Indigenous People of Yakutia

Association of the AGT Gene M235T (rs699) Polymorphism with Arterial Hypertension and Metabolic Risk Factors in the Indigenous People of Yakutia

The association of blood pressure and hypertension with genetic markers identified in genome-wide association studies

Analysis of associations of hypertension with 16 genetic markers selected according to genome-wide studies

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