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Lam, UD; Lerchbaum, E; Schweighofer, N; Trummer, O; Eberhard, K; Genser, B; Pieber, TR; Obermayer-Pietsch, B.
Association of MEP1A gene variants with insulin metabolism in central European women with polycystic ovary syndrome.
Gene. 2014; 537(2):245-252
Doi: 10.1016/j.gene.2013.12.055
Web of Science
PubMed
FullText
FullText_MUG
- Führende Autor*innen der Med Uni Graz
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Lam Uyen Do Phuong
- Co-Autor*innen der Med Uni Graz
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Eberhard Katharina
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Lerchbaum Elisabeth
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Obermayer-Pietsch Barbara
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Pieber Thomas
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Schweighofer Natascha
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Trummer Olivia
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- Abstract:
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Polycystic ovary syndrome (PCOS) shows not only hyperandrogenemia, hirsutism and fertility problems, but also metabolic disturbances including obesity, cardiovascular events and type-2 diabetes. Accumulating evidence suggests some degree of inflammation associated with prominent aspects of PCOS. We aimed to investigate the association of genetic variants 3'UTR rs17468190 (G/T) of the inflammation-associated gene MEP1A (GenBank ID: NM_005588.2) with metabolic disturbances in PCOS and healthy control women. Genetic variants rs17468190 (G/T) of MEP1A gene were analyzed in 576 PCOS women and 206 controls by using the Taqman fluorogenic 5'-exonuclease assay. This polymorphism was tested for association with anthropometric, metabolic, hormonal, and functional parameters of PCOS. There was a borderline significant difference in genotype distribution between PCOS and control women (p=0.046). In overweight/obese PCOS patients, the variants rs17468190 (G/T) in the MEP1A gene are associated with glucose and insulin metabolism. In a dominant model, the GG genotype of the MEP1A gene was more strongly associated with insulin metabolism in overweight/obese PCOS women (body mass index, BMI>25 kg/m(2)), than in GT+TT genotypes. The MEP1A GG-carriers showed a significantly increased homeostatic model assessment - insulin resistance (HOMA-IR) (p=0.003), elevation of fasting insulin (p=0.004) and stimulated insulin (30 min, p<0.001; 60 min, p=0.009; 120 min, p=0.009) as well as triglyceride (p=0.032) levels. MEP1A is a possible target gene for disease modification in PCOS. It might contribute to the abnormalities of glucose metabolism and insulin sensitivity and serve as a diagnostic or therapeutic target gene for PCOS.
Copyright © 2014 Elsevier B.V. All rights reserved.
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3' Untranslated Regions -
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Adult -
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Adult -
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Body Mass Index -
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Case-Control Studies -
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European Continental Ancestry Group - genetics
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Female -
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Gene Frequency -
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Genetic Predisposition to Disease -
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Glucose - metabolism
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Humans -
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Insulin - genetics
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Insulin - metabolism
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Insulin Resistance - genetics
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Metalloendopeptidases - genetics
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Metalloendopeptidases - metabolism
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Obesity - complications
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Obesity - genetics
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Obesity - metabolism
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Overweight - genetics
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Overweight - metabolism
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Polycystic Ovary Syndrome - complications
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Polycystic Ovary Syndrome - genetics
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Polycystic Ovary Syndrome - metabolism
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Polymorphism, Single Nucleotide -
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Triglycerides - blood
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Triglycerides - genetics
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PCOS
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Meprin 1A
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Obesity
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Polymorphism
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Lipids
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Metabolic