24 research outputs found
Carotid Artery Atherosclerosis: A Review on Heritability and Genetics
Carotid atherosclerosis (CAS) is associated with increased cardiovascular risk, and therefore, assessing the genetic versus environmental background of CAS traits is of key importance. Carotid intima-media-thickness and plaque characteristics seem to be moderately heritable, with remarkable differences in both heritability and presence or severity of these traits among ethnicities. Although the considerable role of additive genetic effects is obvious, based on the results so far, there is an important emphasis on non-shared environmental factors as well. We aimed to collect and summarize the papers that investigate twin and family studies assessing the phenotypic variance attributable to genetic associations with CAS. Genes in relation to CAS markers were overviewed with a focus on genetic association studies and genome-wide association studies. Although the role of certain genes is confirmed by studies conducted on large populations and meta-analyses, many of them show conflicting results. A great focus should be on future studies elucidating the exact pathomechanism of these genes in CAS in order to imply them as novel therapeutic targets
The relationship between atherosclerosis and gut microbiome in patients with obstructive sleep apnoea
Background: Obstructive sleep apnoea (OSA) and gut dysbiosis are known risk factors for
atherosclerosis. However, only very few studies have been focused on the relationship between OSA,
atherosclerosis, and the intestinal microbiome, all in animal models. Methods: Twenty-two patients
with OSA, 16 with and 6 without carotid atherosclerosis were involved in the study. After a diagnostic
sleep examination, the intima media thickness (IMT) was measured and plaques were found using
carotid ultrasound. Blood was also drawn for metabolic profile, and a stool sample was provided
for 16S ribosomal RNA microbiome investigation. Results: An increased maximal common carotid
artery (CCA) IMT was significantly associated with decreased phylum-level diversity. The level
of Peptostreptococcaceae was significantly lower in atherosclerotic subjects. Some other candidate
microbes appeared in the two groups at the genus level as well: Bilophila, Romboutsia, Slackia, and
Veillonella in the non-atherosclerotic group; and Escherichia-Shigella, Prevotella, and Ruminococcaceae
in the atherosclerotic group. Conclusions: This is the first pilot research to analyze the association
between the gut microbiome and atherosclerosis in adult patients with OSA with and without carotid
atherosclerosis. Dysbiosis and individual bacteria may contribute to the development of carotid
atherosclerosis in patients with OSA. Further investigations are necessary to reveal a more precise
background in a larger sample
Overlapping Genetic Background of Coronary Artery and Carotid/Femoral Atherosclerotic Calcification
Background and objectives: Multivessel atherosclerosis and its genetic background are
under-investigated, although atherosclerosis is seldom local and still causes high mortality. Alternative methods to assess coronary calcification (CAC) might incorporate genetic links between
different arteries’ atherosclerotic involvement, however, co-occurrences of coronary calcification have
not been investigated in twins yet. Materials and Methods: We assessed the heritability of radio
morphologically distinct atherosclerotic plaque types in coronary (non-enhanced CT, Agatston score),
carotid, and femoral arteries (B-mode ultrasound) in 190 twin subjects (60 monozygotic, 35 dizygotic
pairs). Four-segment scores were derived in order to assess the dissemination of the distinct plaque
types in the carotid and femoral arteries taking bilaterality into account. We calculated the genetic
correlation between phenotypically correlating plaque types in these arteries. Results: CAC and
dissemination of calcified plaques in the carotid and femoral arteries (4S_hyper) were moderately
heritable (0.67 [95% CI: 0.37–1] and 0.69 [95% CI: 0.38–1], respectively) when adjusted for age and
sex. Hypoechoic plaques in the carotid and femoral arteries showed no heritability, while mixed
plaques showed intermediate heritability (0.50 [95% CI: 0–0.76]). Age and sex-adjusted phenotypic
correlation between CAC and 4segm_hyper was 0.48 [95% CI: 0.30–0.63] and the underlying genetic
correlation was 0.86 [95% CI: 0.42–1]. Conclusions: Calcification of atherosclerotic plaques is moderately heritable in all investigated arteries and significant overlapping genetic factors can be attributed
to the phenotypical resemblance of coronary and carotid or femoral atherosclerotic calcification. Our
findings support the idea of screening extracoronary arteries in asymptomatic individuals. We also
propose a hypothesis about primarily carotid-coronary and femoral-coronary atherosclerosis as two
distinct genetic predispositions to co-localization
Genetic and environmental factors on heart rate, mean arterial pressure and carotid intima–media thickness: A longitudinal twin study
Background: Heart rate (HR), mean arterial pressure (MAP) and carotid intima–media thickness (cIMT) are moderately heritable cardiovascular traits, but the environmental effects on the longitudinal change of their heritability have never been investigated.
Methods: 368 Italian and Hungarian twins (107 monozygotic, 77 dizygotic) underwent oscillometric measurement and B-mode sonography of bilateral carotid arteries in 2009/2010 and 2014. Within- -individual/cross-study wave, cross-twin/within-study wave and cross-twin/cross-study wave correlations were estimated, and bivariate Cholesky models were fitted to decompose the total variance at each wave and covariance between study waves into additive genetic, shared and unique environmental components.
Results: For each trait, a moderate longitudinal stability was observed, with within-individual/crosswave correlations of 0.42 (95% CI: 0.33–0.51) for HR, 0.34 (95% CI: 0.24–0.43) for MAP, and 0.23 (95% CI: 0.12–0.33) for cIMT. Cross-twin/cross-wave correlations in monozygotic pairs were all significant and substantially higher than the corresponding dizygotic correlations. Genetic continuity was the main source of longitudinal stability, with across-time genetic correlations of 0.52 (95% CI: 0.29–0.71) for HR, 0.56 (95% CI: 0.31–0.81) for MAP, and 0.36 (95% CI: 0.07–0.64) for cIMT. Overlapping genetic factors explained respectively 57%, 77%, and 68% of the longitudinal covariance of the HR, MAP and cIMT traits.
Conclusions: Genetic factors have a substantial role in the longitudinal change of HR, MAP and cIMT; however, the influence of unique environmental factors remains relevant. Further studies should better elucidate whether epigenetic mechanisms have a role in influencing the stability of the investigated traits over time