Session: MON 796-817-Diabetes Genetics & Epidemiology
Poster Board MON-807
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 profilefor 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
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