Associations Between Human Aldosterone Synthase (CYP11B2) Gene Polymorphisms and Left Ventricular Size, Mass, and Function

Kupari, Markku; Hautanen, Aarno; LANKINEN, L.; Koskinen, Pekka; Virolainen, Juha; Nikkila, Heli; White, Perrin C.

doi:10.1161/01.cir.97.6.569

Cited by 190 publications

(178 citation statements)

References 36 publications

Supporting

Mentioning

160

Contrasting

Unclassified

Order By: Relevance

“…The aldosterone synthase gene (CYP11B2) C(À344)T promoter polymorphism was originally associated with left ventricular size and mass in young healthy adults, as reported by Kupari et al 1 Indeed, the C(À344) allele was strongly and independently associated with increased left ventricular diameters and mass. A subsequent study on a larger but older population failed to confirm the association between C(À344)T polymorphism and BP, cardiac measurements, and aldosterone levels.…”

Section: Introductionmentioning

confidence: 93%

Aldosterone synthase alleles and cardiovascular phenotype in young adults

et al. 2003

View full text Add to dashboard Cite

The C(À344)T promoter polymorphism of the human aldosterone synthase (CYP11B2) gene has been associated with hypertension and cardiac hypertrophy, but there were contrasting data. We analysed the genotype/ phenotype associations between this polymorphism and cardiovascular variables in a young adult population, where interactions among genes, gene-environment, and acquired ageing-related organ damage are reduced. Anthropometric measurements, blood pressure, heart rate, left ventricular variables (by echocardiography), and carotid artery wall intimal-media thickness (by high-resolution sonography and digitalized morphometry) were taken in 420 white Caucasian students (mean age 23.5 years, s.d. 2.5 years). CYP11B2 alleles were detected by genomic polymerase chain reaction followed by digestion. Taking into account the three possible models of inheritance, we found no differences in the considered variables, except for an independent effect of the C(À344) allele on SBP in males (TT 125.6 (1.6), TC 128.4 (1.2) and CC 130.5 (2.2), mmHg, media (ES), P ¼ 0.03), and on interventricular septum thickness in diastole in females (CC 6.98 (0.12) vs TT 6.87 (0.09) and TC 6.87 (0.07), mmHg, Po0.01), in the codominant model. In conclusion, the CYP11B2 C(À344)T polymorphism appears to have a slight role in the cardiovascular phenotype of young healthy adults, even if these genotype/phenotype relationships might change with ageing.

show abstract

Section: Introductionmentioning

confidence: 93%

Aldosterone synthase alleles and cardiovascular phenotype in young adults

et al. 2003

View full text Add to dashboard Cite

show abstract

“…The region of DNA containing the polymorphism was amplified by PCR as reported earlier 25 with the primers: sense 5 0 -CAGGAGGAGACCCCATGTGAC-3 0 ; antisense 5 0 -CCTCCACCCTGTTCAGCCC-3 0 (Invitrogen, Life Technologies, Carlsbad, CA, USA). PCR conditions were: 35 cycles at 94 1C for 1 min, at 64 1C for 1 min and at 72 1C for 1 min.…”

Section: Subjectsmentioning

confidence: 99%

Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphisms with gestational hypertension

et al. 2010

View full text Add to dashboard Cite

The extent of genetic influence in the aetiology of gestational hypertension has not been completely determined. The aim of this study was to analyse the relationship between aldosterone levels and the -344T/C polymorphism of the aldosterone synthase gene (CYP11B2) and to investigate the frequency of the S810L mutation of mineralocorticoid receptor (MR) in gestational hypertension. One hundred women with pregnancy-induced hypertension and 100 with normal pregnancy were studied to measure serum aldosterone and progesterone levels and for the genotypification of the -344T/C polymorphism of CYP11B2 gene and the S810L mutation of MR by RFLP-PCR and SSP, respectively. Serum aldosterone levels were reduced (o0.000001) and serum progesterone levels increased (o0.000001) in gestational hypertensive women as compared with normal pregnant women. The -344T/C of CYP11B2 genotypic frequencies were similar in the hypertensive and normotensive pregnant women. The 810L-mutated allele of MR was found in 12% of the hypertensive and 9.4% of the normotensive pregnant women. In contrast to the observations made in preeclampsia, the genotype of -344T/C of CYP11B2 was neither related with gestational hypertension nor with aldosterone levels at delivery. The frequency of the S810L mutation was similar in the hypertensive and normotensive women but higher than observed in other reports.

show abstract

“…2 Several CYP11B2 polymorphisms have been investigated, but studies have concentrated on the C-344T polymorphism. The transcription regulatory factor SF-1 binds the CYP11B2 gene promoter region and is affected by the C-344T polymorphism, 3 but controversy remains about the significance of this to expression of aldosterone synthase. 4 C-344T genotype was associated with systolic blood pressure and aldosterone to renin ratio in 437 elderly subjects.…”

mentioning

confidence: 99%

“…7 Overall genotype frequencies were CC 19.0%, CT 53.1% and TT 27.9%, which conformed to the expected Hardy-Weinberg equilibrium (P ¼ 0.998) and agreed with results of studies of predominantly European populations. 3 The investigation, approved by the Canterbury Ethics Committee, conforms to the principles of the Declaration of Helsinki. Patients were assigned to one of four self-identified ethnic groups: European, Maori, Non-European/ Non-Maori and Not-Stated.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Association of the aldosterone synthase gene C-344T polymorphism with risk factors and survival in a post-myocardial infarction cohort

Baird¹,

Palmer²,

Frampton³

et al. 2007

J Hum Hypertens

View full text Add to dashboard Cite

Associations Between Human Aldosterone Synthase (CYP11B2) Gene Polymorphisms and Left Ventricular Size, Mass, and Function

Abstract: Genetic variations in or near the aldosterone synthase (CYP11B2) gene strongly affect left ventricular size and mass in young adults free of clinical heart disease. These polymorphisms may also influence the response of the left ventricle to increases in dietary salt.

Cited by 190 publications

References 36 publications

Aldosterone synthase alleles and cardiovascular phenotype in young adults

Aldosterone synthase alleles and cardiovascular phenotype in young adults

Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphisms with gestational hypertension

Association of the aldosterone synthase gene C-344T polymorphism with risk factors and survival in a post-myocardial infarction cohort

Contact Info

Product

Resources

About