Epistasis analysis of metabolic genes polymorphisms associated with ischemic heart disease in Yucatan

García-González, Igrid; López-Díaz, Roger Iván; Canché-Pech, José Reyes; Solís-Cárdenas, Alberto de Jesús; Flores-Ocampo, Jorge A.; Mendoza-Alcocer, Renán; Herrera-Sánchez, Luis Fernando; Jiménez-Rico, Marco Antonio; Ceballos-López, Adrián Alejandro; López-Novelo, María E.

doi:10.1016/j.artere.2017.11.004

Cited by 4 publications

(3 citation statements)

References 59 publications

(50 reference statements)

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“…Concerning CVDs, the MTHFR C677T gene polymorphism (examined in this investigation) is a common mutation that diminishes the activity of this enzyme and is associated with increased susceptibility in the development of cardiovascular events in human populations (Liew and Gupta 2015). The MTHFR 677T-allele (polymorphic allele) frequency found in this study was 43 % (Table 2), comparable to the ones detected in other investigations completed in Mexico (Supplementary material, Table S3) (Hernández-Guerrero et al 2013b;Vazquez-Alaniz et al 2014;Ramos-Silva et al 2015;Calderón-Garcidueñas et al 2017;García-González et al 2018a). For example, the MTHFR 677T-allele frequency was 51 % for a Mexican mestizo population recruited in Mexico City (Hernández-Guerrero et al 2013b).…”

Section: Discussionsupporting

confidence: 83%

“…Similarly, the 677T-allele was detected in 46 % of Mexican women from the Nuevo Leon state (Calderón-Garcidueñas et al 2017), frequency of 51 % for the polymorphic allele (677T) was detected in an adult population from southern Mexico (Yucatan state) (García-González et al 2018b). Also, allelic frequencies of MTHFR C677T polymorphism in other world regions are shown in the Supplementary material, Table S3 ( Heux et al 2004;Thirumaran et al 2005;Mazzuca et al 2015;Basol et al 2016;El Hajj Chehadeh et al 2016;Graydon et al 2019;Silva et al 2019;Peng et al 2020), the MTHFR 677T-allele frequency found in European countries ranged from 22.0 % to 40.0 % (Supplementary material, Table S3).…”

Section: Discussionmentioning

confidence: 91%

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Occurrence of MTHFR C677T gene polymorphism and its association with atherogenic indices in Mexican women from San Luis Potosi, a preliminary study

Fernández-Macías

Ochoa-Martínez

Pérez-López

et al. 2023

Preprint

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Some genetic variants (polymorphisms) of the methylenetetrahydrofolate reductase (MTHFR) enzyme are considered a susceptibility factor in the development of cardiovascular diseases (CVDs). Therefore, this study aimed to investigate the relationship between MTHFR C677T polymorphism and levels of well-recognized atherogenic indices in a female population from San Luis Potosi, Mexico. A total of 340 women participated in the study, and MTHFR C677T genotypification was assessed using a RT-PCR assay. Also, Framingham risk score (FRS), Castelli risk index (CRI), and atherogenic index of plasma (AIP) were estimated. The allelic frequency detected was 0.43 for the MTHFR 677T-allele in the enrolled women. Besides, the mean value of AIP was significantly higher (p<0.05) for individuals with the mutant genotype (TT; 0.29 ± 0.20) contrasted to AIP values detected in people with the wild-type genotype (CC; 0.15 ± 0.20) and heterozygous genotype (CT; 0.16 ± 0.20). Similar findings were observed for CRI through MTHFR C677T genotypes (4.40 ± 1.80; 3.90 ± 1.30; and 3.60 ± 0.90; for CC, CT, and TT, respectively). No significant changes were detected for FRS values across MTHFR C677T genotypes. Lastly, significant statistical associations were identified between the TT genotype and the AIP values (odds ratio: 2.15; 95% CI: 1.95-4.95; p= 0.01). No significant associations were detected between MTHFR C677T genotypes and FRS and CRI indices values. The results found in this research agree with data that support an increased CVDs risk in MTHFR 677T-allele carriers in the human population, as AIP is considered a reliable CVDs risk biomarker.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 91%

Occurrence of MTHFR C677T gene polymorphism and its association with atherogenic indices in Mexican women from San Luis Potosi, a preliminary study

Fernández-Macías

Ochoa-Martínez

Pérez-López

et al. 2023

Preprint

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“…Even though not regulated by rs7284877, two other highlighted genes were already implied in cardiovascular disorders and/or phenotypes. First, GSTT1, glutathione S-transferase theta 1, has been suggested to associate with various cardiovascular diseases (49,50). It is shown via RNA-seq studies to be differentially expressed in heart depending on the pathological state:…”

Section: Intracellular Tau Concentration Relies On Its Transmembrane mentioning

confidence: 99%

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

Garnier

Harakaľová

Weiß

et al. 2020

Preprint

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SummaryWe present the results of the largest genome wide association study (GWAS) performed so far in dilated cardiomyopathy (DCM), a leading cause of systolic heart failure and cardiovascular death, with 2,719 cases and 4,440 controls in the discovery population. We identified and replicated two new DCM-associated loci, one on chromosome 3p25.1 (lead SNP rs62232870, p = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication step, respectively) and the second on chromosome 22q11.23 (lead SNP rs7284877, p = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication step, respectively) while confirming two previously identified DCM loci on chromosome 10 and 1, BAG3 and HSPB7. The genetic risk score constructed from the number of lead risk-alleles at these four DCM loci revealed that individuals with 8 risk-alleles were at a 27% increased risk of DCM compared to individuals with 5 risk alleles (median of the referral population). We estimated the genome wide heritability at 31% ± 8%.In silico annotation and functional 4C-sequencing analysis on iPSC-derived cardiomyocytes strongly suggest SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine and beta-alanine transporter whose involvement in myocardial dysfunction and DCM is supported by recent observations in humans and mice. Although less easy to discriminate the better candidate at the 22q11.23 locus, SMARCB1 appears as the strongest one.This study provides both a better understanding of the genetic architecture of DCM and new knowledge on novel biological pathways underlying heart failure, with the potential for a therapeutic perspective.

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Genetic interactions effects for cancer disease identification using computational models: a review

Manavalan

Priya

2021

Med Biol Eng Comput

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Epistasis analysis of metabolic genes polymorphisms associated with ischemic heart disease in Yucatan

Cited by 4 publications

References 59 publications

Occurrence of MTHFR C677T gene polymorphism and its association with atherogenic indices in Mexican women from San Luis Potosi, a preliminary study

Occurrence of MTHFR C677T gene polymorphism and its association with atherogenic indices in Mexican women from San Luis Potosi, a preliminary study

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

Genetic interactions effects for cancer disease identification using computational models: a review

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