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1.
Gene ; 663: 34-40, 2018 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-29655894

RESUMEN

Several studies have reported the role of hedgehog interacting protein-like 1 (HHIPL-1) in different pathologies, including cardiovascular disease. The aim of the present study was to analyze the association of HHIPL-1 (rs2895811) polymorphism with myocardial infarction (MI), cardiometabolic parameters, and traditional cardiovascular risk factors in the Mexican population. The polymorphism was genotyped using a TaqMan assay in 1023 patients with MI and 1105 controls. A similar distribution of the polymorphism was observed between studied groups. However, in patients group, the C allele was associated with a decreased risk of developing hypertriglyceridemia (OR = 0.757, Padditive = 0.030, OR = 0.685, Pdominant = 0.020, OR = 0.691, Pcodominant1 = 0.030), metabolic syndrome (OR = 0.746, Padditive = 0.030, OR = 0.647, Pdominant = 0.005, OR = 0.670, Pheterozygote = 0.015, OR = 0.637, Pcodominant1 = 0.005), and insulin resistance (OR = 0.681, Pdominant = 0.045). The results suggest that HHIPL-1 rs2895811 polymorphism is associated with cardiometabolic parameters in Mexican patients with MI.


Asunto(s)
Hipertrigliceridemia/genética , Resistencia a la Insulina/genética , Péptidos y Proteínas de Señalización Intercelular/genética , Síndrome Metabólico/genética , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Adulto , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , México , Persona de Mediana Edad , Factores de Riesgo
2.
Chin Med J (Engl) ; 130(9): 1113-1121, 2017 May 05.
Artículo en Inglés | MEDLINE | ID: mdl-28469108

RESUMEN

OBJECTIVE: Vascular calcification is the consequence of the complex interaction between genetic, environmental, and vascular factors, which ultimately lead to the deposition of calcium in the tunica intima (atherosclerotic calcification) or tunica media (Mönckenberg's sclerosis). Vascular calcification is also closely related to other pathologies, such as diabetes mellitus, dyslipidemia, and chronic kidney disease. It has been concluded that the degree of vascular calcification may vary from person to person, even if the associated pathologies and environmental factors are the same. Therefore, this suggests an important genetic contribution to the development of vascular calcification. This review aimed to find the most recent evidence about vascular calcification pathophysiology regarding the genetic aspects and molecular pathways. DATA SOURCES: We conducted an exhaustive search in Scopus, EBSCO, and PubMed with the keywords "genetics and vascular calcification", "molecular pathways, genetic and vascular calcification" and included the main articles from January 1995 up to August 2016. We focused on the most recent evidence about vascular calcification pathophysiology regarding the genetic aspects and molecular pathways. STUDY SELECTION: The most valuable published original and review articles related to our objective were selected. RESULTS: Vascular calcification is a multifactorial disease; thus, its pathophysiology cannot be explained by a single specific factor, rather than by the result of the association of several genetic variants, molecular pathway interactions, and environmental factors that promote its development. CONCLUSION: Although several molecular aspects of this mechanism have been elucidated, there is still a need for a better understanding of the factors that predispose to this disease.


Asunto(s)
Calcificación Vascular/metabolismo , Calcificación Vascular/fisiopatología , Diabetes Mellitus/metabolismo , Diabetes Mellitus/fisiopatología , Dislipidemias/metabolismo , Dislipidemias/fisiopatología , Humanos , Fallo Renal Crónico/metabolismo , Fallo Renal Crónico/fisiopatología , Insuficiencia Renal Crónica/metabolismo , Insuficiencia Renal Crónica/fisiopatología , Túnica Íntima/metabolismo , Túnica Íntima/fisiopatología , Túnica Media/metabolismo , Túnica Media/fisiopatología
3.
Artículo en Inglés | MEDLINE | ID: mdl-27517945

RESUMEN

Single-nucleotide polymorphisms (SNPs) in the protein phosphatase and actin regulator 1 gene (PHACTR1) have been associated with susceptibility to develop several diseases, including cardiovascular disease. The purpose of this study was to evaluate the role of two polymorphisms (rs2026458 and rs9349379) of the PHACTR1 gene in the susceptibility to the risk of developing premature coronary artery disease (CAD) in the Mexican population. The genotype analysis was performed using 5'exonuclease TaqMan genotyping assays in a group of 994 patients with premature CAD and 703 controls. A similar genotype distribution of rs2026458 was observed in both groups; however, under an additive model adjusted by age, body mass index, type 2 diabetes mellitus, smoking, dyslipidemia, and hypertension, the rs9349379 G allele was associated with a higher risk for developing premature CAD (odds ratio (OR) = 1.22, 95% confidence interval (CI) = 1.03-1.46, p-value (p) = 0.024). The two PHACTR1 polymorphisms were not in linkage disequilibrium. In summary, our results suggest that the PHACTR1 rs9349379 polymorphism plays an important role in the risk of developing premature CAD in the Mexican population.


Asunto(s)
Enfermedad de la Arteria Coronaria/genética , Predisposición Genética a la Enfermedad/genética , Proteínas de Microfilamentos/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Alelos , Enfermedad de la Arteria Coronaria/epidemiología , Dislipidemias/genética , Femenino , Genotipo , Humanos , Hipertensión/genética , Masculino , México , Persona de Mediana Edad , Oportunidad Relativa
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