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-807
Duarte L Pignatelli*1, Aida Palmeiro2, Alexandra Lopes3, Luis Dias4, Purificação Tavares5 and Paula Rendeiro5
1Hospital S Joao, Porto, Portugal, 2CGC - Clinical Genetics Center, Porto, Portugal, 3CGC- Genetics - Clinical Genetics Center, Porto, Portugal, 4CGC-Genetics - Clinical Genetics Center, Porto, Portugal, 5CGC Genetics - Clinical Genetics Center, Porto, Portugal
Introduction: Type 2 Diabetes is one of the most common health problems worldwide and its prevalence is rapidly increasing. Although environmental factors play a substantial role in the etiology, genetic susceptibility has been established as an important risk factor. Several recent genome-wide studies and linkage analysis testing have identified and confirmed various T2D susceptibility loci. However, as demonstrated by the results of the HapMap project and by other studies, the allele frequencies of the risk variants differ between populations.

Material and Methods: As a preliminary study of the genetic risk evaluation in Portuguese T2D patients, we selected 18 variants that have been consistently associated with T2D (PPARG, KCNJ11, TCF7L2, WFS1, KCNQ1, HNF1B, HHEX, NOTCH2, CDC123, TSPAN8, CDKL1, SLC30A8, CDKN2BAS, ADAMTS9, FTO, IGF2BP2, JAZF1, and THADA) and analyzed 708 DNA samples of a normal Portuguese population. The allele frequencies were calculated and compared with the published frequencies for other European populations.

Results: For all variants, genotype call rates   were >99%. All variants were in Hardy-Weinberg equilibrium.  Compared with other studies including normal European Caucasian populations, the allele frequencies of this population are in the same range but with some differences, more evident for variants in CDKL1, SLC30A8, ADAMTS9, TCFL2, HHEX, KCNQ1, HNF1B and WFS1. All these variants are related to B-cell function and affect insulin secretion and so may have an impact on the interpretation of results of the diabetic population that will be performed next.

Conclusion: These results indicate that the Portuguese population has its own profile for these variants and confirms the relevance of this study as a preliminary step for the evaluation of risk alleles in the Portuguese diabetic patients.

Nothing to Disclose: DLP, AP, AL, LD, PT, PR

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

Sources of Research Support: QREN - Health Cluster Grant