Acta Endocrinol (Buchar). 2017 Apr-Jun;13(2):161-167. doi: 10.4183/aeb.2017.161.
THE PPARGC1A - GLY482SER POLYMORPHISM (RS8192678) AND THE METABOLIC SYNDROME IN A CENTRAL ROMANIAN POPULATION.
Acta endocrinologica (Bucharest, Romania : 2005)
K Csép, E Szigeti, M Vitai, L Korányi
Affiliations
Affiliations
- University of Medicine and Pharmacy, Department of Genetics, Tg. Mure?, Romania.
- Drug Research Center, Balatonfüred, Hungary.
PMID: 31149168
PMCID: PMC6516449 DOI: 10.4183/aeb.2017.161
Abstract
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
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.
Keywords: PPARGC1A polymorphism; metabolic syndrome
Conflict of interest statement
The authors declare that they have no conflict of interest concerning this article.
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