THE PPARGC1A - GLY482SER POLYMORPHISM (RS8192678) AND THE METABOLIC SYNDROME IN A CENTRAL ROMANIAN POPULATION
| Autor: | M Vitai, L Korányi, K Csép, E Szigeti |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
education.field_of_study Endocrine and Autonomic Systems business.industry Endocrinology Diabetes and Metabolism Population Physiology medicine.disease 03 medical and health sciences 030104 developmental biology Endocrinology Polymorphism (computer science) Genotype medicine PPARGC1A Metabolic syndrome business education Allele frequency Genotyping General Endocrinology Genetic association |
| Zdroj: | Acta endocrinologica (Bucharest, Romania : 2005). 13(2) |
| ISSN: | 1841-0987 |
| Popis: | Background The peroxisome proliferator-activated receptor-γ co-activator 1-α (PPARGC1A), a key transcription factor involved in the control of metabolism and energy homeostasis, is an important biological and positional candidate of the metabolic syndrome. Association studies of its polymorphisms, however, yielded inconsistent sometimes conflicting results, pointing to important ethnic differences, which call for replication in various populations. Objective In order to study its most common - potentially functional - polymorphism Gly482Ser (rs8192678), we carried out a case-control study in a central Romanian population. Material and methods Two hundred and ninety six patients affected by the metabolic syndrome diagnosed according to the International Diabetes Federation proposed criteria and 166 middle-aged control subjects have been investigated. Genotyping was done by PCR-RFLP, using the restriction enzyme MspI. Results While the G(Gly)/A(Ser) allele frequencies (66.89/33.11 vs. 71.68/28.31 %) and GG/GA/AA genotype distribution (45.27-43.24-11.48 vs. 54.21-34.93-10.84 %) differed in the metabolic syndrome and control group, the risk of developing the metabolic syndrome did not reach the limit of statistical significance (OR=1.43; p=0.06, CI 95%: 0.97-2.09). Metabolic parameters in the two study groups did not show significant differences according to the genotype (p>0.05). Conclusion rs8192678 could be a functional polymorphism contributing to the development of the metabolic syndrome, but probably its effect is minor, and might depend on gene-gene and gene-environment interactions. Clarification of very small effects would require larger sample sizes. |
| Databáze: | OpenAIRE |
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