POLYMORPHISMS IN HETEROZYGOUS AND HOMOZYGOUS PERILIPIN GENE, C.1113T > C AND C.1119C > T, ARE INCREASED IN OBESE WOMEN

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dc.contributor.authorSarac, F.
dc.contributor.authorBerdelli, A.
dc.contributor.authorAtan, M.
dc.contributor.authorYilmaz, C.
dc.contributor.authorAkcicek, F.
dc.date.accessioned2019-10-27T21:40:59Z
dc.date.available2019-10-27T21:40:59Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground. Obesity involves both genetic and environmental influences, but the mechanisms of the genetic effects are not well understood. Objective. The aims of the study were to investigate the frequency of perilipin gene polymorphism in order to identify the relationship between insulin resistance and gene polymorphism in obese women. Subjects and methods. Study population included 31 obese women and 10 women with normal weight as a control group. All of the entire coding exons of PLIN gene were amplified by polymerase chain reaction (PCR). Insulin resistance (IR) was estimated using the homeostasis model assessment (HOMA-IR). Results. In the obese group, 29 (93.6%) patients were homozygous and 1 patient (3.2%) was heterozygous for the c.580C>.G (p.Pro194A1a) (rs.6496589) mutation and I patient (3.2%) was Pro194A1a. Homozygous.Val156Leu. heterozygous mutation at exon 5 at PLIN gene (p=0.072). As for exon 8 at PLIN gene in obese group, 6 patients (19.3%) had heterozygous for the c.1113T>C (Pro371Pro) (rs2304796) mutation, and 12 patients (38.7%) had heterozygous for the c.1113T>C and c.1119C>T (p.Val373Val) (rs2304795) mutation, and 4 patients (12.9%) had homozygous for the c.1113T>C and c.1119C>T mutations (p=0.009). In obese patients with no nucleotide substitution at exon 8, mean levels of systolic and diastolic blood pressures were higher than those of obese subjects with gene polymorphism. However, there were no statistically significant differences for HOMA-IR levels between obese women with and without perilipin gene polymorphism. Conclusions: Perilipin gene polymorphisms such as heterozygous and homozygous for the c.1113T>C and c.1119C>T (rs2304795) at exon 8 were associated with obesity risk. However, no relationship was found between insulin resistance and polymorphisms of perilipin gene in obese women.en_US
dc.identifier.doi10.4183/aeb.2012.565
dc.identifier.endpage574en_US
dc.identifier.issn1841-0987
dc.identifier.issn1843-066X
dc.identifier.issn1841-0987en_US
dc.identifier.issn1843-066Xen_US
dc.identifier.issue4en_US
dc.identifier.startpage565en_US
dc.identifier.urihttps://doi.org/10.4183/aeb.2012.565
dc.identifier.urihttps://hdl.handle.net/11454/46488
dc.identifier.volume8en_US
dc.identifier.wosWOS:000312679100005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherEditura Acad Romaneen_US
dc.relation.ispartofActa Endocrinologica-Bucharesten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPerilipin geneen_US
dc.subjectobesity risken_US
dc.subjectinsulin resistanceen_US
dc.titlePOLYMORPHISMS IN HETEROZYGOUS AND HOMOZYGOUS PERILIPIN GENE, C.1113T > C AND C.1119C > T, ARE INCREASED IN OBESE WOMENen_US
dc.typeArticleen_US

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