Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension

Tripodi, Grazia; Modica, Rossana; Stella, Alessandra; Bigatti, Giada; Bianchi, Giuseppe; Stella, Paola

doi:10.1053/j.jrn.2004.09.035

Cited by 6 publications

(4 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recent estimates attribute as much as 60% of the blood pressureindependent variation in cardiac mass to genetic factors; moreover, a significant correlation exists between adjusted relative risk for concentric LVH and elevated LVMI with race and ethnic background, suggesting the presence of genetic modifiers conferring differential susceptibility to pressure overloadinduced LV remodeling and LVH (12,25,31,38,45). Recent studies identifying polymorphisms in genes encoding ghrelin, angiotensin-converting enzyme (ACE), and bradykinin B 2 receptor and in genes involved with carnitine transport as candidate modifiers of LV remodeling and LV mass further support a strong genetic link (3,13,18,24,33,42,54,65).Surgical transverse aortic constriction (TAC) in mice causes chronic LV pressure overload, progressive LVH remodeling, and subsequent cardiac failure, providing an experimental model for human cardiac response to systemic hypertension (27,37,52,64). Since its development, the TAC model has been used extensively on genetically engineered mice to investigate the role of specific genes during the development of LVH and cardiac failure in vivo.…”

mentioning

confidence: 97%

mentioning

confidence: 97%

See 1 more Smart Citation

Cardiac response to pressure overload in 129S1/SvImJ and C57BL/6J mice: temporal- and background-dependent development of concentric left ventricular hypertrophy

Barrick¹,

Rojas²,

Schoonhoven³

et al. 2007

American Journal of Physiology-Heart and Circulatory Physiology

119

112

View full text Add to dashboard Cite

Left ventricular hypertrophy (LVH), a risk factor for cardiovascular morbidity and mortality, is commonly caused by essential hypertension. Three geometric patterns of LVH can be induced by hypertension: concentric remodeling, concentric hypertrophy, and eccentric hypertrophy. Clinical studies suggest that different underlying etiologies, genetic modifiers, and risk of mortality are associated with LVH geometric patterns. Since pressure overload-induced LVH can be modeled experimentally using transverse aortic constriction (TAC) and since C57BL/6J (B6) and 129S1/SvImJ (129S1) strains, which have different baseline cardiovascular phenotypes, are commonly used, we conducted serial echocardiographic studies to assess cardiac function up to 8 wk of post-TAC in male B6, 129S1, and B6129F1 (F1) mice. B6 mice had an earlier onset and more pronounced impairment in contractile function, with corresponding left and right ventricular dilatation, fibrosis, change in expression of hypertrophy marker, and increased liver weights at 5 wk of post-TAC. These observations suggest that B6 mice had eccentric hypertrophy with systolic dysfunction and right-sided heart failure. In contrast, we found that 129S1 and F1 mice delayed transition to decompensated heart failure, with 129S1 mice exhibiting preserved systolic function until 8 wk of post-TAC and relatively mild alterations in histology and markers of hypertrophy at 5 wk post-TAC. Consistent with concentric hypertrophy, our results show that these strains manifest different cardiac responses to pressure overload in a time-dependent manner and that genetic susceptibility to initial concentric hypertrophy is dominant to eccentric hypertrophy. These results also imply that genetic background differences can complicate interpretation of TAC studies when using mixed genetic backgrounds.

show abstract

mentioning

confidence: 97%

mentioning

confidence: 97%

Cardiac response to pressure overload in 129S1/SvImJ and C57BL/6J mice: temporal- and background-dependent development of concentric left ventricular hypertrophy

Barrick¹,

Rojas²,

Schoonhoven³

et al. 2007

American Journal of Physiology-Heart and Circulatory Physiology

119

112

View full text Add to dashboard Cite

show abstract

“…For instance, a study in a French Canadian population suggested the A275T (rs17610395) variant modulates indices of obesity by fat intake and in a separate study haplotypes of CPT1A were associated with left ventricular mass in essential hypertension . 9, 10 A study of 761 Alaskan Natives evaluated the association of 149 CPT1A SNPs with activity of delta-5 and delta-6 desaturases, which are rate limiting enzymes in the metabolism of ω3 and ω-6 fatty acids. 11 After correction for multiple testing, three independent SNPs (rs11228368, rs3019594, rs613084) were strongly associated with either red blood cell or plasma enzyme activity (6.6*10 −39 ≤P≤6.7*10 −5 ) in addition to HDL-C level.…”

Section: Genetic Studies Of Cpt1a and Lipid Metabolismmentioning

confidence: 99%

CPT1A: the future of heart disease detection and personalized medicine?

Irvin

Aslibekyan

Hidalgo

et al. 2014

Clinical Lipidology

View full text Add to dashboard Cite

“…However, polymorphisms of only two of these genes (CPT1A and RGS20/GNA14) have been linked to hypertension. Carnitine palmitoyltransferase 1A (CPT1A) is among four genes that have their polymorphisms associated with left ventricular hypertrophy (LVH) in essential hypertension [38]. In "The Millennium Genome Project for Hypertension", Kohara et al [39] found the genes RGS20 and GNA14.…”

Section: Candidate Genes For the Qtl On Gene-rich And/or Gene-poor Chmentioning

confidence: 99%

Analysis of candidate genes of QTL and chromosomal regions for essential hypertension in the rat model

Wang

Zhu²,

Huang

et al. 2012

OJGen

View full text Add to dashboard Cite

This is an in silico analysis of quantitative trait loci (QTLs), genes, polymorphisms, and chromosomal regions regulating hypertension in the rat genome. Utilizing PGmapper, a program that matches phenoltypes to genes, we identified 266 essential hypertension-associated genes (HyperA), and 83 of these genes contain known hypertension-associated polymorphisms (HyperAP). The majority of HyperAP have been reported in recent years. Surprisingly, only a few of these HyperAP genes have been investigated for their candidacy as the QTL for hypertension. The frequency of candidate genes within peak regions of the QTL is higher than the rest of the QTL region. We also found that QTL located in both gene-rich regions and gene-rich chromosomes contained the most candidate genes. However, the number of candidate genes within a peak region is not associated with the number of total genes in a QTL region. This data could not only facilitate a more rapid and comprehensive identification for the causal genes underlying hypertension in rats, but also provides new insights into genomic structure in regulation of hypertension.

show abstract

Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension

Cited by 6 publications

References 15 publications

Cardiac response to pressure overload in 129S1/SvImJ and C57BL/6J mice: temporal- and background-dependent development of concentric left ventricular hypertrophy

Cardiac response to pressure overload in 129S1/SvImJ and C57BL/6J mice: temporal- and background-dependent development of concentric left ventricular hypertrophy

CPT1A: the future of heart disease detection and personalized medicine?

Analysis of candidate genes of QTL and chromosomal regions for essential hypertension in the rat model

Contact Info

Product

Resources

About