Metabolic Syndrome: evaluation of PPARG, KCNJ11, HHEX, HNF4A, ECA, FTO and ABCA1 gene polymorphisms in Maya children

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 796-817-Diabetes Genetics & Epidemiology
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-803
Barbara Itzel Peña-Espinoza*1, MA Granados-Silvestre1, Julio Lara-Riegos2, Isela Montúfar-Robles3, Carlos Juarez-Lopez4, Maria Guadalupe Ortiz-Lopez5 and Marta Menjivar2
1Universidad Nacional Autonoma de Mexico, Mexico, DF, Mexico, 2Universidad Nacional Autónoma de México, México, DF, Mexico, 3Hospital Juárez de México, México, DF, Mexico, 4Instituto de Servicios Descentralizados de Salud Publica del Estado de Campeche, Campeche, Mexico, 5Hospital Juarez de Mexico, Mexico, DF, Mexico
The metabolic syndrome (MetS) refers to the clustering of risk factors for cardiovascular disease and diabetes. Common variants in PPARG, KCNJ11, HHEX, HNF4A, ECA, FTO and ABCA1 have been involved in its pathogenesis. Epidemiological studies show that obesity is the main feature in Mexican children. The Mexican Mestizo population is result from a recent admixture of European, Amerindian, and African populations, having estimated average proportions of ~50%, ~45%, and ~5% respectively. Data from the Mexican National Nutrition Survey showed that 26.1% of school-age children are overweight or obese, and the prevalence of MetS is 23%, particularly the State of Campeche, of Maya heritage, exceeds the national average of overweight and obesity, reaching 31 %. The aim of this study was to determine whether polymorphisms PPARG (rs1801282), KCNJ11 (rs5219), HHEX (rs1111875), HNF4A (rs1800961), ECA (I/D of a 287-bp fragment in intron 16), FTO (rs9939609) and ABCA1 (rs9282541) are associated with MetS components in rural and urban Maya children of the State of Campeche, Mexico. The study was conducted in 508 children aged 9 to 13 years of (242 rural and 266 urban), MetS was identified according with the de Ferranti criteria, DNA was isolated from peripheral blood according to standard procedures. The polymorphisms were genotyped using TaqMan assays by RT-PCR (Viia7 Applied Biosystems). Ancestry was assessed by specific SNPs.  Results showed that the observed and expected genotypes were in Hardy-Weinberg equilibrium. The following associations were detected in rural children: between HNF4A polymorphism and insulin (p=0.001), between PPARG polymorphism with HDL-C (p=0.04). In urban children, result showed that FTO polymorphism was associated with BMI (p=0.009) and fasting triglycerides (p=0.003). In turn, FTO, HHEX and HNF4A were associated with waist circumference (p=0.022, p=0.015 and p=0.013, respectively), whereas KCNJ11 were associated with high fasting glucose (p=0.028) and ECA with blood pressure (p=0.000). In rural children, the frequency of was 41.3% and of overweight and obesity, 29%, but 8% were underweight; urban children had 50% frequency of  MetS whereas 53% of overweight and obesity. In conclusion, results showed that the frequency of overweight children was higher in the urban than in rural areas. This study reveals the presence of high prevalence of MetS in Maya children similarly distributed in rural or urban areas, supporting genetic polymorphisms involved in the pathogenesis of MetS in Maya children.

Nothing to Disclose: BIP, MG, JL, IM, CJ, MGO, MM

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Sources of Research Support: This project was supported by the Dirección General de Asuntos del Personal Académico Programa de Apoyo a Proyectos de IN231511; B.I.P-E received support through scholarship provided by the Consejo Nacional de Ciencia y Tecnología, (CONACyT 261067).