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Relationship between the single nucleotide polymorphisms of ??-adrenergic receptor 5'-regulatory region and essential hypertension in Chinese Kazakh ethnic minority group.

ABSTRACT: To study the correlation of ?2-AR gene 5'-regulatory region SNPs and essential hypertension (EH) in Chinese Kazakh ethnic minority group.The Sequenom MassArray(®) SNP detection technology was used to detect ?2-AR gene 5'-regulatory region SNPs in 150 Xinjiang Kazakh EH patients and 150 controls. Biochemical analyzer was used to detect lipid and other related biochemical parameters. SHEsis and other software were used to analyze linkage disequilibrium and haplotype.Six loci rs205304 (-1023G/A), rs17108803 (-893T/G), rs12654778 (-654G/A), rs11168070 (-468C/G), rs11959427 (-367C/T) and rs2895795 (-1429T/A) polymorphisms of ?2-AR gene 5'-regulatory region were found in the Xinjiang Kazakh populations. While, there was no significant difference between EH group and NH in genotypes and allele frequency of rs2053044, rs12654778, rs2895795, rs17108803 and rs11959427 (P>0.05). However; significant differences were detected of rs11168070 genotypes and allele frequency in two groups (P<0.05). Analysis of the linkage disequilibrium and haplotype in Kazakh population, there is a strong linkage disequilibrium of rs11168070, rs2053044, rs2895795 gene polymorphism in the EH group, and rs11168070, rs12654778, rs17108803 gene polymorphism in controls. Frequency of haplotype GTCCAT, GACTGT and ATGCGT in EH group was higher (P<0.05), while frequency of ATCTGT, ATGTGT, GTCCGT, GTCTAT, GACCAT and GTCTGT in the EH group was significantly lower than the control (P<0.05).?2-AR gene 5'-regulatory region of rs11168070, rs2053044, rs17108803, rs12654778, rs11959427 and rs2895795 genetic polymorphism exists in Kazakh. Among them, rs11168070 locus genotype and allele frequency distribution in the two groups are significant differences. In six polymorphic loci, there is a strong linkage disequilibrium, which haplotypes GTCCAT, GACTGT, ATGCGT are risk factors of EH, and the ATCTGT, ATGTGT, GTCCGT, GTCTAT, GACCAT, GTCTGT are protective factors.

SUBMITTER: Cai W

PROVIDER: S-EPMC4555733 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Relationship between the single nucleotide polymorphisms of β₂-adrenergic receptor 5'-regulatory region and essential hypertension in Chinese Kazakh ethnic minority group.

Cai Weijuan W Yin Liang L Cheng Jiang J Wang Shaoliang S Wei Yu Y Cao Wenjiang W Cheng Jiang J

International journal of clinical and experimental pathology 20150701 7

<h4>Objective</h4>To study the correlation of β2-AR gene 5'-regulatory region SNPs and essential hypertension (EH) in Chinese Kazakh ethnic minority group.<h4>Methods</h4>The Sequenom MassArray(®) SNP detection technology was used to detect β2-AR gene 5'-regulatory region SNPs in 150 Xinjiang Kazakh EH patients and 150 controls. Biochemical analyzer was used to detect lipid and other related biochemical parameters. SHEsis and other software were used to analyze linkage disequilibrium and haploty ...[more]

PMID: 26339405

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Project description:A previous study of the authors using microarray analysis indicated that the expression of complement component 4 binding protein (C4BP)A is upregulated in essential hypertension (EH) patients, but the association between C4BPA variations and EH has not yet been clearly demonstrated. Since the 5' upstream region is known to serve important roles in the gene expression regulation, the present study aimed to identify and analyze the association of single nucleotide polymorphisms (SNPs) in the 5' upstream region between the C4BPA gene with EH in a case‑control study among a northeastern Han Chinese population through direct sequencing as well as genotype detection. A total of 822 unrelated participants were included. The higher expression level of C4BPA in the peripheral blood of patients with EH was verified through reverse transcription‑quantitative polymerase chain reaction and ELISA. A total of four SNPs, rs73079108, rs74148971, rs77660718 and rs11120211 were identified in the 5' upstream region of C4BPA. Association analysis demonstrated that the genotypic frequencies of rs73079108 were significantly different between EH and the control groups (P=0.011), and A allelic frequency was lower in EH (P<0.001). Logistic regression analysis indicated that the rs73079108 polymorphism was closely associated with EH (AA:GA:GG genetic model: P=0.007, odds ratio (OR)=0.604, 95% confidence interval (CI) [0.418‑0.873]; AA+GA:GG genetic model: P=0.005, OR=0.806, 95% CI[0.382‑0.841]), and the A allele may be a protective factor. Subgroup analysis by sex and BMI presented concordant conclusions in female and non‑obese samples. Further analysis indicated that rs73079108 was associated with systolic blood pressure (P<0.001), diastolic blood pressure (P=0.001) and fast blood glucose (FBG) (P=0.021). In addition, rs73079108 GA and GG carriers reported a significant increase in the level of the protein encoded by C4BPA than those of AA carriers. The rs73079108 polymorphism in the 5' upstream region of C4BPA was associated with EH, and rs73079108‑A may be an independent predictor.

Dataset Information

Relationship between the single nucleotide polymorphisms of ??-adrenergic receptor 5'-regulatory region and essential hypertension in Chinese Kazakh ethnic minority group.

Publications

Relationship between the single nucleotide polymorphisms of β₂-adrenergic receptor 5'-regulatory region and essential hypertension in Chinese Kazakh ethnic minority group.

Similar Datasets

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