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THOC5 : A novel gen...
THOC5 : A novel gene involved in HDL-cholesterol metabolism
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- Keller, Maria (author)
- Leipzig University
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- Schleinitz, Dorit (author)
- Leipzig University
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- Förster, Julia (author)
- Leipzig University
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- Tönjes, Anke (author)
- Leipzig University
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- Böttcher, Yvonne (author)
- Leipzig University
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- Fischer-Rosinsky, Antje (author)
- Charité - University Medicine Berlin
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- Breitfeld, Jana (author)
- Leipzig University
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- Weidle, Kerstin (author)
- Leipzig University
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- Rayner, Nigel W. (author)
- Wellcome Trust Centre for Human Genetics
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- Burkhardt, Ralph (author)
- Leipzig University
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- Enigk, Beate (author)
- Leipzig University
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- Müller, Ines (author)
- Leipzig University
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- Halbritter, Jan (author)
- Leipzig University
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- Koriath, Moritz (author)
- Leipzig University
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- Pfeiffer, Andreas (author)
- German Institute of Human Nutrition,Charité - University Medicine Berlin
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- Krohn, Knut (author)
- Leipzig University
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- Groop, Leif (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups
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- Spranger, Joachim (author)
- Charité - University Medicine Berlin
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- Stumvoll, Michael (author)
- Leipzig University
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- Kovacs, Peter (author)
- Leipzig University
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(creator_code:org_t)
- 2013
- 2013
- English 7 s.
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In: Journal of Lipid Research. - 0022-2275. ; 54:11, s. 3170-3176
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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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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- By the author/editor
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Keller, Maria
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Schleinitz, Dori ...
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Förster, Julia
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Tönjes, Anke
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Böttcher, Yvonne
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Fischer-Rosinsky ...
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show more...
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Breitfeld, Jana
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Weidle, Kerstin
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Rayner, Nigel W.
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Burkhardt, Ralph
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Enigk, Beate
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Müller, Ines
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Halbritter, Jan
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Koriath, Moritz
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Pfeiffer, Andrea ...
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Krohn, Knut
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Groop, Leif
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Spranger, Joachi ...
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Stumvoll, Michae ...
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Kovacs, Peter
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Journal of Lipid ...
- By the university
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Lund University