2024-03-29T07:19:56Zhttps://repositori.uji.es/oai/requestoai:repositori.uji.es:10234/688882023-12-12T18:17:34Zcom_10234_7038com_10234_9col_10234_8634
00925njm 22002777a 4500
dc
Arregui, María
author
Buijsse, Brian
author
Stefan, Norbert
author
Corella, Dolores
author
Fisher, Eva
author
Di Giuseppe, Romina
author
Coltell, Oscar
author
Knüppel, Sven
author
Aleksandrova, Krasimira
author
Joost, Hans-Georg
author
Boeing, Heiner
author
Weikert, Cornelia
author
2012
Background: 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), gammaglutamyltransferase (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.
1932-6203
1932-6203
http://hdl.handle.net/10234/68888
http://dx.doi.org/10.1371/journal.pone0048338
Heterogeneity of the Stearoyl-CoA desaturase-1 (SCD1) Gene and Metabolic Risk Factors in the EPIC-Potsdam Study