rs9282541 POLYMORPHISM OF ABCA1 IS ASSOCIATED WITH TYPE 2 DIABETES IN MAYA POPULATION

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

Poster Board MON-805
Julio Lara-Riegos*1, Maria Guadalupe Ortiz-Lopez2, Barbara Itzel Peña-Espinoza1, Isela Montúfar-Robles3, Jesus Castro-Ramirez4, Miguel Peña-Rico1, Luz Camacho1, MA de los Ángeles Granados-Silvestre1 and Marta Menjivar1
1Universidad Nacional Autónoma de México, México, DF, Mexico, 2Hospital Juarez de Mexico, Mexico, DF, Mexico, 3Hospital Juárez de México, México, DF, Mexico, 4Servicios Estatales de Salud, Felipe Carrillo Puerto, Mexico
The number of adults with diabetes in Mexico has been duplicated since past decade, imposing a significant public health burden due to substantial disability and premature death. To date, the gene pool of Mexican Mestizos is the resultant of the 500 years admixture between European, Native Americans, and African. Nowadays, Mexican indigenous population represents nearly 11% of total Mexican population, being Maya the second-largest group. Diverse genetic risk variants associated with T2D have been described, including ABCA1 (rs9282541), HHEX (rs1111875), KCNJ11 (rs5219), HNF4A (rs1800961) and PPARG (rs1801282) genes. Recently, the ABCA1 rs9282541 variant has been defined as exclusive to Native American individuals, associated with HDL-C levels as well as to obesity and T2D in Mexican Mestizos.

The aim of this study was to examine if the Maya population presents five common genetic variants previously associated with T2D. The project was approved by the “Human research ethical Committee” of Hospital Juárez de Mexico. We analyzed 575 individuals from 22 Maya communities from the Yucatan Peninsula. Genotyping was performed by RT-PCR. Evaluation of genetic ancestry group was included. Results showed an association of ABCA1 rs9282541 with T2D, OR= 2.29 (95% CI 1.337-3.929 p=0.003); the allele frequency of ABCA1 risk variant was 20.43 %, in agreement with previous studies done in Mexican Mestizos. In addition, HNF4A rs1800961 was associated with high triglyceride concentration. HNF4A rs1800961 and PPARG rs1801282 frequencies were 10.9% and 17.2% respectively; both were higher than those reported in the HapMap. The allele frequency of HHEX rs1111875 was 42.1%, which is higher than those reported in HapMap, except the Asian population. The frequency of KCNJ11 rs5219 was 34.6%, which was higher than those reported by the 1000 genomes project. Finally, this study reveals that ABCA1 rs9282541 is associated with T2D in Maya population. In addition, the high frequency of SNPs rs1111875, rs5219, rs1800961 and rs1801282 suggest that may have an effect on susceptibility to develop T2D in Maya population, however will be necessary to search for other factors that may explain diabetes in Mexico.

Nothing to Disclose: JL, MGO, BIP, IM, JC, MP, LC, MDLG, MM

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

Sources of Research Support: This project was supported by the Dirección General de Asuntos del Personal Académico IN231511; J.H.L received support through Scholarship provided by the Consejo Nacional de Ciencia y Tecnología (CONACyT 262383)