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THOC5 : A novel gene involved in HDL-cholesterol metabolism

Keller, Maria (author)
Leipzig University
Schleinitz, Dorit (author)
Leipzig University
Förster, Julia (author)
Leipzig University
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Tönjes, Anke (author)
Leipzig University
Böttcher, Yvonne (author)
Leipzig University
Fischer-Rosinsky, Antje (author)
Charité - University Medicine Berlin
Breitfeld, Jana (author)
Leipzig University
Weidle, Kerstin (author)
Leipzig University
Rayner, Nigel W. (author)
Wellcome Trust Centre for Human Genetics
Burkhardt, Ralph (author)
Leipzig University
Enigk, Beate (author)
Leipzig University
Müller, Ines (author)
Leipzig University
Halbritter, Jan (author)
Leipzig University
Koriath, Moritz (author)
Leipzig University
Pfeiffer, Andreas (author)
German Institute of Human Nutrition,Charité - University Medicine Berlin
Krohn, Knut (author)
Leipzig University
Groop, Leif (author)
Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups
Spranger, Joachim (author)
Charité - University Medicine Berlin
Stumvoll, Michael (author)
Leipzig University
Kovacs, Peter (author)
Leipzig University
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 (creator_code:org_t)
2013
2013
English 7 s.
In: Journal of Lipid Research. - 0022-2275. ; 54:11, s. 3170-3176
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Although numerous genes are known to regulate serum lipid traits, identified variants explain only a small proportion of the expected heritability. We intended to identify further genetic variants associated with lipid phenotypes in a self-contained population of Sorbs in Germany. We performed a genome-wide association study (GWAS) on LDL-cholesterol, HDL-cholesterol (HDL-C), and triglyceride (TG) levels in 839 Sorbs. All single-nucleotide polymorphisms with a P value <0.01 were subjected to a meta-analysis, including an independent Swedish cohort (Diabetes Genetics Initiative; n = ∼ 3,100). Novel association signals with the strongest effects were subjected to replication studies in an additional German cohort (Berlin, n = 2,031). In the initial GWAS in the Sorbs, we identified 14 loci associated with lipid phenotypes reaching P values <10 -5 and confirmed significant effects for 18 previously reported loci. The combined meta-analysis of the three study cohorts (n(HDL) = 6041; n (LDL) = 5,995; n(TG) = 6,087) revealed a novel association for a variant in THOC5 (rs8135828) with serum HDL-C levels (P = 1.78 × 10-7; Z -score = -5.221). Consistently, the variant was also associated with circulating APOA1 levels in Sorbs. The small interfering RNA-mediated mRNA silencing of THOC5 in HepG2 cells resulted in lower mRNA levels of APOA1, SCARB1, and ABCG8 (all P < 0.05). We propose THOC5 to be a novel gene involved in the regulation of serum HDL-C levels.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)

Keyword

Genomewide-association study
MRNA silencing
Single nucleotide polymorphism

Publication and Content Type

art (subject category)
ref (subject category)

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