Department of Medical Biological Disciplines, Belgorod State National Research University, 308015 Belgorod, Russia.
Int J Mol Sci. 2023 May 5;24(9):8309. doi: 10.3390/ijms24098309.
The aim of this case-control replicative study was to investigate the link between GWAS-impact for arterial hypertension (AH) and/or blood pressure (BP) gene polymorphisms and AH risk in Russian subjects (Caucasian population of Central Russia). AH (n = 939) and control (n = 466) cohorts were examined for ten GWAS AH/BP risk loci. The genotypes/alleles of these SNP and their combinations (SNP-SNP interactions) were tested for their association with the AH development using a logistic regression statistical procedure. The genotype GG of the SNP rs1799945 (C/G) HFE was strongly linked with an increased AH risk (ORrecGG = 2.53; 95%CIrecGG1.03-6.23; ppermGG = 0.045). The seven SNPs such as rs1173771 (G/A) , rs1799945 (C/G) , rs805303 (G/A) , rs932764 (A/G) , rs4387287 (C/A) , rs7302981 (G/A) , rs167479 (T/G) , out of ten regarded loci, were related with AH within eight SNP-SNP interaction models (<0.001 ≤ pperm-interaction ≤ 0.047). Three polymorphisms such as rs8068318 (T/C) , rs633185 (C/G) , and rs2681472 (A/G) were not linked with AH. The pairwise rs805303 (G/A) -rs7302981 (G/A) combination was a priority in determining the susceptibility to AH (included in six out of eight SNP-SNP interaction models [75%] and described 0.82% AH entropy). AH-associated variants are conjecturally functional for 101 genes involved in processes related to the immune system (major histocompatibility complex protein, processing/presentation of antigens, immune system process regulation, etc.). In conclusion, the rs1799945 polymorphism of the gene and intergenic interactions of , , , , , , have been linked with AH risky in the Caucasian population of Central Russia.
本病例对照复制研究旨在探讨与 GWAS 影响动脉高血压(AH)和/或血压(BP)基因多态性与俄罗斯人群 AH 风险之间的关联(俄罗斯中部的白种人群体)。对 939 例 AH(病例)和 466 例对照(对照组)队列进行了 10 个 GWAS AH/BP 风险基因座的检查。使用逻辑回归统计程序检验这些 SNP 的基因型/等位基因及其组合(SNP-SNP 相互作用)与 AH 发病的相关性。 SNP rs1799945(C/G)HFE 的 GG 基因型与 AH 风险增加强烈相关(ORrecGG=2.53;95%CIrecGG1.03-6.23;ppermGG=0.045)。在 rs1173771(G/A)、rs1799945(C/G)、rs805303(G/A)、rs932764(A/G)、rs4387287(C/A)、rs7302981(G/A)、rs167479(T/G)七个 SNP 中,在 rs4387287(C/A)、rs7302981(G/A)、rs167479(T/G)三个 SNP 中,除了 rs8068318(T/C)、rs633185(C/G)和 rs2681472(A/G)三个 SNP 与 AH 无关。 SNP-SNP 相互作用模型中,有三个多态性 rs805303(G/A)-rs7302981(G/A)优先确定 AH 易感性(包含在 8 个 SNP-SNP 相互作用模型中的 6 个[75%],并描述了 0.82%的 AH 熵)。AH 相关变体推测对涉及免疫系统(主要组织相容性复合体蛋白、抗原加工/呈递、免疫系统过程调节等)相关过程的 101 个基因具有功能。综上所述,在俄罗斯中部的白种人群体中,基因的 rs1799945 多态性和、、、、、、的基因间相互作用与 AH 风险相关。