Cargando…
Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion
AIM: To determine whether maternal leptin (LEP) and leptin receptor (LEPR) gene polymorphisms are associated with idiopathic recurrent spontaneous abortion (IRSA). METHODS: This case-control association study conducted from 2010 to 2012 at the Department of Gynecology and Obstetrics, University Hosp...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Croatian Medical Schools
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209929/ https://www.ncbi.nlm.nih.gov/pubmed/28051281 http://dx.doi.org/10.3325/cmj.2016.57.566 |
_version_ | 1782490823098630144 |
---|---|
author | Müller, Andrijana Wagner, Jasenka Hodžić, Alenka Maver, Aleš Škrlec, Ivana Heffer, Marija Zibar, Lada Peterlin, Borut |
author_facet | Müller, Andrijana Wagner, Jasenka Hodžić, Alenka Maver, Aleš Škrlec, Ivana Heffer, Marija Zibar, Lada Peterlin, Borut |
author_sort | Müller, Andrijana |
collection | PubMed |
description | AIM: To determine whether maternal leptin (LEP) and leptin receptor (LEPR) gene polymorphisms are associated with idiopathic recurrent spontaneous abortion (IRSA). METHODS: This case-control association study conducted from 2010 to 2012 at the Department of Gynecology and Obstetrics, University Hospital Center Osijek and Clinical Institute of Medical Genetics Ljubljana included 178 women with a history of three or more IRSAs before the 22nd week of gestation and 145 women with at least two live births and no history of pathologic pregnancies during reproductive period. Polymorphisms of maternal LEP (rs7799039, rs2122627, rs11761556, rs10244329) and LEPR (rs1137101, rs7516341, rs1186403, rs12062820) were assessed by allele specific real-time polymerase chain reaction. Genotype distribution, allele frequencies, and frequency of haplotypes at LEP and LEPR genetic loci were determined. RESULTS: We observed more frequent genotype for rs7516341 (nominal P = 0.034, odds ratio [OR] 0.61, 95% confidence interval [CI] 0.38-0.97) and rs1137101 (nominal P = 0.048, OR 1.66, 95% CI 1.00-2.80) in the LEPR gene in patients than in controls, but these results did not remain significant after correction for multiple testing according to Bonferroni (adjusted P value threshold was set at 0.05). We did not observe differential distribution of genotype frequencies in the LEP gene between cases and controls. In patients with IRSA, GTCC haplotype in the LEPR gene locus was significantly less frequent than in controls (P = 0.00865, OR 0.45), contrary to ACTC haplotype (P = 0.0087, OR 1.98). CONCLUSIONS: We showed that genetic variability in the LEPR gene was associated with IRSA, warranting confirmation on a greater number of patients and pathogenesis investigation. |
format | Online Article Text |
id | pubmed-5209929 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Croatian Medical Schools |
record_format | MEDLINE/PubMed |
spelling | pubmed-52099292017-01-13 Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion Müller, Andrijana Wagner, Jasenka Hodžić, Alenka Maver, Aleš Škrlec, Ivana Heffer, Marija Zibar, Lada Peterlin, Borut Croat Med J Clinical Science AIM: To determine whether maternal leptin (LEP) and leptin receptor (LEPR) gene polymorphisms are associated with idiopathic recurrent spontaneous abortion (IRSA). METHODS: This case-control association study conducted from 2010 to 2012 at the Department of Gynecology and Obstetrics, University Hospital Center Osijek and Clinical Institute of Medical Genetics Ljubljana included 178 women with a history of three or more IRSAs before the 22nd week of gestation and 145 women with at least two live births and no history of pathologic pregnancies during reproductive period. Polymorphisms of maternal LEP (rs7799039, rs2122627, rs11761556, rs10244329) and LEPR (rs1137101, rs7516341, rs1186403, rs12062820) were assessed by allele specific real-time polymerase chain reaction. Genotype distribution, allele frequencies, and frequency of haplotypes at LEP and LEPR genetic loci were determined. RESULTS: We observed more frequent genotype for rs7516341 (nominal P = 0.034, odds ratio [OR] 0.61, 95% confidence interval [CI] 0.38-0.97) and rs1137101 (nominal P = 0.048, OR 1.66, 95% CI 1.00-2.80) in the LEPR gene in patients than in controls, but these results did not remain significant after correction for multiple testing according to Bonferroni (adjusted P value threshold was set at 0.05). We did not observe differential distribution of genotype frequencies in the LEP gene between cases and controls. In patients with IRSA, GTCC haplotype in the LEPR gene locus was significantly less frequent than in controls (P = 0.00865, OR 0.45), contrary to ACTC haplotype (P = 0.0087, OR 1.98). CONCLUSIONS: We showed that genetic variability in the LEPR gene was associated with IRSA, warranting confirmation on a greater number of patients and pathogenesis investigation. Croatian Medical Schools 2016-12 /pmc/articles/PMC5209929/ /pubmed/28051281 http://dx.doi.org/10.3325/cmj.2016.57.566 Text en Copyright © 2016 by the Croatian Medical Journal. All rights reserved. http://creativecommons.org/licenses/by/2.5/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Clinical Science Müller, Andrijana Wagner, Jasenka Hodžić, Alenka Maver, Aleš Škrlec, Ivana Heffer, Marija Zibar, Lada Peterlin, Borut Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion |
title | Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion |
title_full | Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion |
title_fullStr | Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion |
title_full_unstemmed | Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion |
title_short | Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion |
title_sort | genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion |
topic | Clinical Science |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209929/ https://www.ncbi.nlm.nih.gov/pubmed/28051281 http://dx.doi.org/10.3325/cmj.2016.57.566 |
work_keys_str_mv | AT mullerandrijana geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion AT wagnerjasenka geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion AT hodzicalenka geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion AT maverales geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion AT skrlecivana geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion AT heffermarija geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion AT zibarlada geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion AT peterlinborut geneticvariationinleptinandleptinreceptorgenesisariskfactorforidiopathicrecurrentspontaneousabortion |