Association of rs662799 and rs5070 genetic polymorphisms with hypertriglyceridemia and atherogenic dyslipidemia in pediatric patients in Southeast Mexico / Asociación de los polimorfismos genéticos rs662799 y rs5070 con hipertrigliceridemia y dislipidemia aterogénica en pacientes pediátricos del sureste de México

Background and aims: Triglycerides are the initiators of the metabolic changes that lead to atherogenic dyslipidemia (AD). The APOA5 and APOA1 genes are involved in the response and metabolism of serum lipids and lipoproteins, where single nucleotide polymorphisms (SNP) rs662799 (promoter region) and rs5070 (intronic region) have been associated with the susceptibility to dyslipidemia. Until now, few studies evaluate the association of these polymorphisms with the presentation of hypertriglyceridemia and AD among Mexican children. Therefore, the objective was to determine the association between rs662799 and rs5070 with hypertriglyceridemia and AD in a pediatric population of southeastern Mexico. Materials and methods: A case–control analysis was performed including 268 infants aged 2–16 years, anthropometric, clinical variables, and serum lipid profiles were analyzed. DNA was extracted from blood samples and genotyping of polymorphisms was executed with the TaqMan SNP genotyping assay. Allele and genotypic frequencies were calculated. For genetic association analysis, logistic regression models were fitted according to models of inheritance. Results: The SNP rs662799 (C) was significantly associated with hypertriglyceridemia in the overdominant model (OR=3.89, p=0.001) and AD in the dominant model (OR=4.01, p=0.001). The SNP rs5070 (T) has a protective effect against hypertriglyceridemia in the additive risk model (OR=0.68, p=0.03). Conclusion: Polymorphism rs662799 was significantly associated with cases of hypertriglyceridemia and AD in minors in southeastern Mexico. On the other hand, rs5070 polymorphism was not associated with cases of hypertriglyceridemia or AD.(AU)

Antecedentes y objetivos: Los triglicéridos son los iniciadores de los cambios metabólicos que conducen a la dislipidemia aterogénica (DA). Los genes APOA5 y APOA1 están implicados en la respuesta y metabolismo de lípidos séricos y lipoproteínas, donde los polimorfismos de nucleótido único (SNP) rs662799 (región promotora) y rs5070 (región intrónica) se han asociado con la susceptibilidad a la dislipidemia. Hasta ahora, pocos estudios evalúan la relación de estos polimorfismos con la presentación de hipertrigliceridemia y DA entre los niños mexicanos. Por lo tanto, el objetivo fue determinar la asociación entre rs662799 y rs5070 con hipertrigliceridemia y DA en una población pediátrica del sureste de México. Materiales y métodos: Se realizó un análisis de casos y controles con 268 niños de 2 a 16 años, se analizaron variables antropométricas, clínicas y perfiles de lípidos séricos. Se extrajo ADN de muestras de sangre y se realizó genotipado de polimorfismos con el ensayo de genotipado TaqMan SNP. Se calcularon las frecuencias alélicas y genotípicas. Para el análisis de asociación genética, los modelos de regresión logística se ajustaron según los modelos de herencia. Resultados: El SNP rs662799 se asoció significativamente con hipertrigliceridemia en el modelo sobredosis (OR=3,89, p=0,001) y DA en el modelo dominante (OR=4,01, p=0,001). El SNP rs5070 tiene un efecto protector contra la hipertrigliceridemia en el modelo de riesgo aditivo (OR=0,68, p=0,03). Conclusión: El polimorfismo rs662799 se asoció significativamente con casos de hipertrigliceridemia y DA en menores del sureste de México. Por otro lado, el polimorfismo rs5070 no se asoció con casos de hipertrigliceridemia o DA en esta población.(AU)

Association of rs662799 and rs5070 genetic polymorphisms with hypertriglyceridemia and atherogenic dyslipidemia in pediatric patients in Southeast Mexico.

BACKGROUND AND AIMS: Triglycerides are the initiators of the metabolic changes that lead to atherogenic dyslipidemia (AD). The APOA5 and APOA1 genes are involved in the response and metabolism of serum lipids and lipoproteins, where single nucleotide polymorphisms (SNP) rs662799 (promoter region) and rs5070 (intronic region) have been associated with the susceptibility to dyslipidemia. Until now, few studies evaluate the association of these polymorphisms with the presentation of hypertriglyceridemia and AD among Mexican children. Therefore, the objective was to determine the association between rs662799 and rs5070 with hypertriglyceridemia and AD in a pediatric population of southeastern Mexico. MATERIALS AND METHODS: A case-control analysis was performed including 268 infants aged 2-16 years, anthropometric, clinical variables, and serum lipid profiles were analyzed. DNA was extracted from blood samples and genotyping of polymorphisms was executed with the TaqMan SNP genotyping assay. Allele and genotypic frequencies were calculated. For genetic association analysis, logistic regression models were fitted according to models of inheritance. RESULTS: The SNP rs662799 (C) was significantly associated with hypertriglyceridemia in the overdominant model (OR=3.89, p=0.001) and AD in the dominant model (OR=4.01, p=0.001). The SNP rs5070 (T) has a protective effect against hypertriglyceridemia in the additive risk model (OR=0.68, p=0.03). CONCLUSION: Polymorphism rs662799 was significantly associated with cases of hypertriglyceridemia and AD in minors in southeastern Mexico. On the other hand, rs5070 polymorphism was not associated with cases of hypertriglyceridemia or AD.

Atherogenic indices in pediatric population in South-Southeast region of Mexico.

BACKGROUND: Atherosclerosis is a cardiovascular disease, highly predictable, and associated with different atherogenic indices (AI) in adults. However, such indexes in the pediatric population are far less explored. The objective of this study was to evaluate the AI and the cardiovascular factors in the pediatric population in the South-Southeast of México. METHODS: A total of 481 children between 2 and 17 years old were recruited. Anthropometric evaluation, blood pressure (BP), lipid profile, apolipoprotein A-I (ApoA-I) and apolipoprotein B (ApoB) were measured, and AI were calculated. The population was grouped by age, binary logistic regression analysis was performed to analysis for associations of AI and cardiovascular risk factors. Sensibility and specificity of AI to detect metabolic alteration were evaluated for curve ROC. RESULTS: The atherogenic risk presented a high prevalence in the pediatric population, such as LDL-c/ApoB (86.9%), AIP (78%) and AC (36.6%). Preschoolers showed a higher risk of ApoB/ApoA-I and ApoB/LDL-c, while adolescents have a high risk of AIP. CRI-I and AC were associated with elements of lipid profile and body mass index (BMI). ROC curves analysis shows that AIP is the best index evaluating metabolic syndrome (MS) (0.87) and dyslipidemia (0.91). CONCLUSION: Such pediatric population showed a high risk of AI, mainly by LDL-c/ApoB and AIP. The BMI was the cardiovascular risk factors most frequently related to AI, AIP is the best index for detecting cases of MS and dyslipidemia. This is the first study carried out in the pediatric population from the South-Southeast of Mexico that evaluated the AI.