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Prevalence of Gly482Ser polymorphism of PPARGC1A in Cuban Americans

Type 2 Diabetes (T2D) has grown to be a major public health issue worldwide. The fundamental clinical characteristic of T2D is high blood glucose levels which may be caused by anomalies in one or more different molecular pathways regulated by certain genes. The Gly482Ser polymorphism in human peroxisome proliferator‐activated receptor gamma coactivator‐1 alpha (PPARGC1A) has been associated with T2D. We genotyped Gly482Ser polymorphism in the PPARGC1A gene from 315 Cuban Americans (164 without T2D / 151 with T2D) using ABI TaqMan assays. Descriptive statistical analysis was performed using SPSS software. The genotype distribution for rs8192678 (Gly482Ser) polymorphism was found to be 0.42 for Gly/Gly, 0.47 for Gly/Ser and 0.10 for Ser/Ser with T2D and 0.47, 0.41 and 0.11 for Gly/Gly, Gly/Ser and Ser/Ser respectively without T2D. The findings in individuals without T2D demonstrate presence of homozygous genotype Gly/Gly to be highest. However, the prevalence of heterozygous genotype Gly/Ser was found to be relatively higher in individuals with T2D than without T2D. The clinical importance of the results has to be established in further studies. Funding was provided by an NIH grant.