Show simple item record

2012-11-06Zeitschriftenartikel DOI: 10.1371/journal.pone.0048338
Heterogeneity of the Stearoyl-CoA desaturase-1 (SCD1) Gene and Metabolic Risk Factors in the EPIC-Potsdam Study
dc.contributor.authorArregui, Maria
dc.contributor.authorBuijsse, Brian
dc.contributor.authorStefan, Norbert
dc.contributor.authorCorella, Dolores
dc.contributor.authorFisher, Eva
dc.contributor.authorGiuseppe, Romina di
dc.contributor.authorColtell, Oscar
dc.contributor.authorKnüppel, Sven
dc.contributor.authorAleksandrova, Krasimira
dc.contributor.authorJoost, Hans-Georg
dc.contributor.authorBoeing, Heiner
dc.contributor.authorWeikert, Cornelia
dc.date.accessioned2018-05-07T16:05:35Z
dc.date.available2018-05-07T16:05:35Z
dc.date.created2012-11-13
dc.date.issued2012-11-06none
dc.identifier.otherhttp://edoc.rki.de/oa/articles/reD3Npqveg1M/PDF/20qNo6v8ISEg.pdf
dc.identifier.urihttp://edoc.rki.de/176904/1361
dc.description.abstractBackground: Stearoyl-CoA desaturase-1 (SCD1) is an enzyme involved in lipid metabolism. In mice and humans its activity has been associated with traits of the metabolic syndrome, but also with the prevention of saturated fatty acids accumulation and subsequent inflammation, whereas for liver fat content inconsistent results have been reported. Thus, variants of the gene encoding SCD1 (SCD1) could potentially modify metabolic risk factors, but few human studies have addressed this question. Methods: In a sample of 2157 middle-aged men and women randomly drawn from the Potsdam cohort of the European Prospective Investigation into Cancer and Nutrition, we investigated the impact of 7 SCD1 tagging-single nucleotide polymorphisms (rs1502593, rs522951, rs11190480, rs3071, rs3793767, rs10883463 and rs508384) and 5 inferred haplotypes with frequency >5% describing 90.9% of the genotype combinations in our population, on triglycerides, body mass index (BMI), waist circumference (WC), glycated haemoglobin (HbA1c), high-sensitivity C-reactive protein (hs-CRP), gamma-glutamyltransferase (GGT), alanine aminotransferase (ALT) and fetuin-A. Results: No significant associations between any of the SNPs or haplotypes and BMI, WC, fetuin-A and hs-CRP were observed. Associations of rs10883463 with triglycerides, GGT and HbA1c as well as of rs11190480 with ALT activity, were weak and became non-significant after multiple-testing correction. Also associations of the haplotype harbouring the minor allele of rs1502593 with HbA1c levels, the haplotype harbouring the minor alleles of rs11190480 and rs508384 with activity of ALT, and the haplotype harbouring the minor alleles of rs522951, rs10883463 and rs508384 with triglyceride and HbA1C levels and GGT activities did not withstand multiple-testing correction. Conclusion: These findings suggest that there are no associations between common variants of SCD1 or its inferred haplotypes and the investigated metabolic risk factors. However, given the results from animal models, heterogeneity of human SCD1 warrants further investigation, in particular with regard to rare variants.eng
dc.language.isoeng
dc.publisherRobert Koch-Institut
dc.subjectGermanyeng
dc.subjectAnimalseng
dc.subjectHumanseng
dc.subjectFemaleeng
dc.subjectMaleeng
dc.subjectAgedeng
dc.subjectMiddle Agedeng
dc.subjectRisk Factorseng
dc.subjectMiceeng
dc.subjectCohort Studieseng
dc.subjectGenetic Heterogeneityeng
dc.subjectGenetic Predisposition to Diseaseeng
dc.subjectHaplotypes/geneticseng
dc.subjectNeoplasms/geneticseng
dc.subjectNeoplasms/metabolismeng
dc.subjectPolymorphism Single Nucleotide/geneticseng
dc.subjectStearoyl-CoA Desaturase/geneticseng
dc.subject.ddc610 Medizin
dc.titleHeterogeneity of the Stearoyl-CoA desaturase-1 (SCD1) Gene and Metabolic Risk Factors in the EPIC-Potsdam Study
dc.typeperiodicalPart
dc.identifier.urnurn:nbn:de:0257-10028453
dc.identifier.doi10.1371/journal.pone.0048338
dc.identifier.doihttp://dx.doi.org/10.25646/1286
local.edoc.container-titlePLoS ONE
local.edoc.container-textArregui M, Buijsse B, Stefan N, Corella D, Fisher E, et al. (2012) Heterogeneity of the Stearoyl-CoA desaturase-1 (SCD1) Gene and Metabolic Risk Factors in the EPIC-Potsdam Study. PLoS ONE 7(11): e48338.
local.edoc.fp-subtypeArtikel
local.edoc.type-nameZeitschriftenartikel
local.edoc.container-typeperiodical
local.edoc.container-type-nameZeitschrift
local.edoc.container-urlhttp://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0048338
local.edoc.container-publisher-namePublic Library of Science
local.edoc.container-volume7
local.edoc.container-issue11
local.edoc.container-year2012

Show simple item record