Molecular genetics of human hypertension

Gong, Maolian; Hübner, Norbert

doi:10.1042/cs20050208

Cited by 50 publications

(48 citation statements)

References 125 publications

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“…3 K Recently several genome-wide association studies have been performed on blood pressure and hypertension to identify the genetic factors. [4][5][6][7][8][9][10][11] What this study adds K This study provides an opportunity to identify causative non-synonymous genetic variations in a hypertension genome-wide association study. K On the basis of previous reports, newly identified genes ADC, PLD2 and BDNF seem to be relevant to hypertension, suggesting the reliability of this approach.…”

Section: Conflict Of Interestmentioning

confidence: 99%

“…Candidate genes were selected from pathways that are implicated in blood pressure regulation-for example, the reninangiotensin system and the adrenergic system. 4 Polymorphisms in genes that control these systems have been examined for their association with hypertension, but replication studies [5][6][7] have failed to verify previously reported associations, presumably because of differences in demographics, such as age and ethnicity. 8 The first results of a genome-wide analysis of single-nucleotide polymorphism (SNP)-hypertension association were published by the Wellcome Trust Case-Control Consortium (WTCCC).…”

Section: Introductionmentioning

confidence: 99%

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Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension

Jin

et al. 2010

J Hum Hypertens

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In this study, we determined the association of 1180 non-synonymous single-nucleotide polymorphisms (SNPs) with systolic blood pressure (SBP) and hypertensive status. A total of 8842 subjects were taken from two community-based cohorts-Ansung (n ¼ 4183) and Ansan (n ¼ 4659), South Korea-which had been established for genome-wide association studies (GWAS). Five SNPs (rs16835244, rs2286672, rs6265, rs17237198 and rs7312017) were significantly associated (P-values: 0.003-0.0001, not corrected for genome-wide significance) with SBP in both cohorts. Of these SNPs, rs16835244 and rs2286672 correlated with risk for hypertension. The rs16835244 SNP replaces Ala288 in arginine decarboxylase (ADC) with serine, and rs2286672 replaces Arg172 in phospholipase D2 (PLD2) with cysteine. A comparison of peptide sequences between vertebrate homologues revealed that the SNPs identified occur at conserved amino-acid residues. In silico analysis of the protein structure showed that the substitution of a polar residue, serine, for a non-polar alanine at amino-acid residue 288 affects a conformational change in ADC, and that Arg172 in PLD2 resides in the PX domain, which is important for membrane trafficking. These results provide insights into the function of these non-synonymous SNPs in the development of hypertension. The study investigating non-synonymous SNPs from GWAS not only by statistical association analysis but also by biological relevance through the protein structure might be a good approach for identifying genetic risk factors for hypertension, in addition to discovering causative variations.

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Section: Conflict Of Interestmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension

Jin

et al. 2010

J Hum Hypertens

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“…Los principales sistemas fisiológicos que se encuentran involucrados en el control de la presión arterial son el sistema renina-angiotensina-aldosterona, el endotelio vascular, la transducción de señales por vía del sistema nervioso y las proteínas del citoesqueleto, que se encargan del mantenimiento del flujo sanguíneo (presión sanguínea y volumen de fluidos extracelulares en el cuerpo), mediación de reacciones de vasodilatación-vasoconstricción y la regulación de la concentración de sales (27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44).…”

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Asociación y efectos de interacción en los genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R y PTGS2 sobre la hipertensión en población antioqueña

et al. 2013

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“…Human essential hypertension accounts for 90% of the hypertensive population, is a complex multifactorial and polygenic disorder [1,2] affecting large groups with a genetic heritability ranging from 15% to 35% [3][4][5][6]. The interplay between environmental and genetic factors is a major determinant of the final phenotype in hypertension [2].…”

Section: Introductionmentioning

confidence: 99%

Association of High Altitude Hypertension with Angiotensin Converting Enzyme (ACE) Gene Insertion/Deletion Polymorphism

Ch¹,

Doza²,

Kumar³

2017

UNOAJ

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The study included ACE gene I/D polymorphism and its association between high altitude hypertension. Genetic, biochemical, anthropometric and Physiometeric results were analyzed using statistical software. The results were non-significant for I/D polymorphism.Objective: ACE is the major enzyme of hypertension and with most commonly reviewed I/D polymorphism. High-altitude exposes various physiological and biochemical changes, which contributes a rise in systemic blood pressure of the body. There are very few studies available in North-India, with a core focus on the high altitude hypertension. Therefore, a current study supported an interest to find out the association of high altitude hypertension with ACE gene I/D polymorphism.Methods: to study the significant association with respect to altitude, genetic, biochemical, anthropometric and physio-metric comparison were conducted among 98 individuals where 489nbeing hypertensive patients and other half being normotensive, inclusive of both males and females. The entire results were finally examined and analyzed using statistical software SPSS 16.0 version. Results:According to study results, mean arterial blood pressure and triglycerides were significantly (p<0.05) associated with SBP among both hypertensive and normotensives. Whereas HDL, LDL-HDL ratio, CHO-HDL were significantly associated only among hypertensive, and age, PP, and SpO2 have been significantly (p<0.05) associated with SBP among normotensive, a strong predictor for SBP. Conclusion:The genotypic observations were visibly linked with the disease, however, the results were statistically non-significant (ID/DD vs. II; OR: 0.54, 95% CI: 0.20-1.44, p= 0.217). A further study with considerate knowledge of noteworthy dynamics, mainly, altitude, population size, and ethnicity are recommended.

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Molecular genetics of human hypertension

Cited by 50 publications

References 125 publications

Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension

Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension

Asociación y efectos de interacción en los genes AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R y PTGS2 sobre la hipertensión en población antioqueña

Association of High Altitude Hypertension with Angiotensin Converting Enzyme (ACE) Gene Insertion/Deletion Polymorphism

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