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Factors Associated with Mutations: Their Matching Rates to Cardiovascular and Neurological Diseases.

ABSTRACT: Monogenic hypertension is rare and caused by genetic mutations, but whether factors associated with mutations are disease-specific remains uncertain. Given two factors associated with high mutation rates, we tested how many previously known genes match with (i) proximity to telomeres or (ii) high adenine and thymine content in cardiovascular diseases (CVDs) related to vascular stiffening. We extracted genomic information using a genome data viewer. In human chromosomes, 64 of 79 genetic loci involving >25 rare mutations and single nucleotide polymorphisms satisfied (i) or (ii), resulting in an 81% matching rate. However, this high matching rate was no longer observed as we checked the two factors in genes associated with essential hypertension (EH), thoracic aortic aneurysm (TAA), and congenital heart disease (CHD), resulting in matching rates of 53%, 70%, and 75%, respectively. A matching of telomere proximity or high adenine and thymine content projects the list of loci involving rare mutations of monogenic hypertension better than those of other CVDs, likely due to adoption of rigorous criteria for true-positive signals. Our data suggest that the factor-disease matching rate is an accurate tool that can explain deleterious mutations of monogenic hypertension at a >80% match-unlike the relatively lower matching rates found in human genes of EH, TAA, CHD, and familial Parkinson's disease.

SUBMITTER: Lucas HB

PROVIDER: S-EPMC8151074 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Background and aimsOne of the most common causes of death worldwide is cardiovascular diseases (CVDs). This study evaluated the prevalence of CVDs risk factors (RFs) and their constellation electively among the Jordanian population and, assessing the most prevalent RF interplay with the rest of CVDs RFs as well as the impact of age and gender dimorphism on the frequencies of coexistence of multiple CVDs risk factors (RFs) among the Jordanian population.Methods and resultsIn this observational multicenter study, a total of 1449 subjects were enrolled. The mean age (±SD) was 44.35 ± 14.46 years; 796 (54.9%) of them were females and 801 (55.28%) of the whole study pool had no family history of premature CVDs. Only 5.9% of the population did not have any of these RFs. The prevalence of CVDs MRFs within-affected subjects was as follows: there were 1081 (74.6%) subjects with overall dyslipidemia, 471 (32.51%) with obesity, 456 (31.47%) were smokers, and at the first diagnostic encounter 541 (37.47%) were with elevated blood pressure and, 310 (21.51%) were with elevated random blood sugar. The coexistence of ≥ two, ≥ three and, ≥ four RFs was observed in 75.7%, 44.4%, and 21.4% of the subjects, respectively. The constellation of multiple RFs was more frequent in men than that in women, where the presence of ≥ two RFs for men was at 86.18% vs. 67.09% for women. Similarly, the appearance of multiple RFs increases with age, starting from the existence of ≥ three, and four RFs respectively. Most notably the clustering of ≥ five RFs in the age group of 45-59 years showed the greatest frequency vs. any other age group.ConclusionsCVDs risk factors (RFs) and clusters of them are extremely prevalent in the Jordanian population. Overall dyslipidemia is the most prevalent MRF and the most favors clustering with other CVDs RFs. Combined two RFs had the highest proportional frequency between all six RFs clusters. The constellation of at least two, three, and four CVDs RFs presented at almost three-fourth, half, and around one-fourth; respectively, Middle-aged males presented significantly higher rates of ≥ five RFs occurrences than females.

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Factors Associated with Mutations: Their Matching Rates to Cardiovascular and Neurological Diseases.

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