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rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population

dc.contributor.authorClark, Jeremy S. C.
dc.contributor.authorPodsiadło, Konrad
dc.contributor.authorRydzewska, Kamila
dc.contributor.authorCiechanowicz, Andrzej
dc.contributor.authorWetering, Thierry van de
dc.contributor.authorSobalska-Kwapis, Marta
dc.contributor.authorMarciniak, Błażej
dc.contributor.authorStrapagiel, Dominik
dc.date.accessioned2023-10-27T04:58:36Z
dc.date.available2023-10-27T04:58:36Z
dc.date.issued2023
dc.identifier.citationClark Jeremy S. C., Podsiadło Konrad, Sobalska-Kwapis Marta, Marciniak Błażej, Rydzewska Kamila, Ciechanowicz Andrzej, van de Wetering Thierry, Strapagiel Dominik: rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population, Scientific Reports, Nature Publishing Group, vol. 13, nr 1, 2023, s. 1-12, DOI:10.1038/s41598-023-43323- 3pl_PL
dc.identifier.urihttp://hdl.handle.net/11089/48201
dc.description.abstractThere is now substantial evidence that zinc-finger proteins are implicated in adiposity. Aims were to datamine for high-frequency (near-neutral selection) pretermination-codon (PTC) single-nucleotide polymorphisms (SNPs; n = 141) from a database with > 550,000 variants and analyze possible association with body mass index in a large Polish sample (n = 5757). BMI was regressed (males/females together or separately) against genetic models. Regression for rs67047829 uncovered an interaction-independent association with BMI with both sexes together: mean ± standard deviation, kg/m2: [G];[G], 25.4 ± 4.59 (n = 3650); [G](;)[A], 25.0 ± 4.28 (n = 731); [A];[A], 23.4 ± 3.60 (n = 44); additive model adjusted for age and sex: p = 4.08 × 10–5; beta: − 0.0458, 95% confidence interval (CI) − 0.0732 : − 0.0183; surviving Bonferroni correction; for males: [G];[G], 24.8 ± 4.94 (n = 1878); [G](;)[A], 24.2 ± 4.31 (n = 386); [A];[A], 22.4 ± 3.69 (n = 23); p = 4.20 × 10–4; beta: − 0.0573, CI − 0.0947 : − 0.0199. For average-height males the difference between [G];[G] and [A];[A] genotypes would correspond to ~ 6 kg, suggesting considerable protection against increased BMI. rs67047829 gives a pretermination codon in ERV3-1 which shares an exonic region and possibly promoter with ZNF117, previously associated with adiposity and type-2 diabetes. As this result occurs in a near-neutral Mendelian setting, a drug targetting ERV3-1/ZNF117 might potentially provide considerable benefits with minimal side-effects. This result needs to be replicated, followed by analyses of splice-variant mRNAs and protein expression.pl_PL
dc.description.sponsorshipThe POPULOUS database was the outcome of the project TESTOPLEK which was funded by the Innovative Economy Operational Programme provided by the European Regional Development Fund 2007–2013. This source had no involvement in the study other than funding for the database.pl_PL
dc.language.isoenpl_PL
dc.publisherSpringer Naturepl_PL
dc.relation.ispartofseriesScientific Reports;13:17118
dc.rightsUznanie autorstwa 4.0 Międzynarodowe*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectBiomarkerspl_PL
dc.subjectDiseasespl_PL
dc.subjectEndocrinologypl_PL
dc.subjectGeneticspl_PL
dc.subjectMedical researchpl_PL
dc.subjectPhysiologypl_PL
dc.titlers67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish populationpl_PL
dc.typeArticlepl_PL
dc.page.number12pl_PL
dc.contributor.authorAffiliationDepartment of Clinical and Molecular Biochemistry, Pomeranian Medical University, al. Powstańców Wlkp. 72, 70-111, Szczecin, Zachodniopomorskie, Polandpl_PL
dc.contributor.authorAffiliationDepartment of Clinical and Molecular Biochemistry, Pomeranian Medical University, al. Powstańców Wlkp. 72, 70-111, Szczecin, Zachodniopomorskie, Polandpl_PL
dc.contributor.authorAffiliationDepartment of Clinical and Molecular Biochemistry, Pomeranian Medical University, al. Powstańców Wlkp. 72, 70-111, Szczecin, Zachodniopomorskie, Polandpl_PL
dc.contributor.authorAffiliationDepartment of Clinical and Molecular Biochemistry, Pomeranian Medical University, al. Powstańców Wlkp. 72, 70-111, Szczecin, Zachodniopomorskie, Polandpl_PL
dc.contributor.authorAffiliationDepartment of Clinical and Molecular Biochemistry, Pomeranian Medical University, al. Powstańców Wlkp. 72, 70-111, Szczecin, Zachodniopomorskie, Polandpl_PL
dc.contributor.authorAffiliationBiobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Łodż, 90-237, Łódź, Polandpl_PL
dc.contributor.authorAffiliationBiobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Łodż, 90-237, Łódź, Polandpl_PL
dc.contributor.authorAffiliationBiobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Łodż, 90-237, Łódź, Polandpl_PL
dc.identifier.eissn2045-2322
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dc.identifier.doi10.1038/s41598-023-43323-3
dc.disciplinenauki biologicznepl_PL


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