Evidence map›Paper›PMID 23139775›Full record

ArticlePloS one2012

Heterogeneity of the Stearoyl-CoA desaturase-1 (SCD1) gene and metabolic risk factors in the EPIC-Potsdam study.

Maria Arregui, Brian Buijsse, Norbert Stefan, Dolores Corella, Eva Fisher, Romina di Giuseppe, Oscar Coltell, Sven Knüppel, Krasimira Aleksandrova, Hans-Georg Joost and 2 more

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Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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4citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Maria ArreguiDepartment of Epidemiology, German Institute of Human Nutrition (DIfE) Potsdam-Rehbruecke, Nuthetal, Germany. Maria.Arregui@dife.de
Brian Buijsse
Norbert Stefan
Dolores Corella
Eva Fisher
Romina di Giuseppe
Oscar Coltell
Sven Knüppel
Krasimira Aleksandrova
Hans-Georg Joost
Heiner Boeing
Cornelia Weikert

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundStearoyl-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.

methodsIn 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.

resultsNo 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.

conclusionThese 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.

Indexed as

Genetic HeterogeneityGenetic Predisposition to DiseaseAgedAnimalsCohort StudiesFemaleGermanyHaplotypesHumansMaleMiceMiddle AgedNeoplasmsPolymorphism, Single NucleotideRisk FactorsStearoyl-CoA DesaturaseSCD1 protein, humanStearoyl-CoA Desaturase

Identifiers

PMID23139775
PMCPMC3491059

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