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Lamina, C.* ; Haun, M.* ; Coassin, S.* ; Kloss-Brandstätter, A.* ; Gieger, C. ; Peters, A. ; Grallert, H. ; Strauch, K. ; Meitinger, T. ; Kedenko, L.* ; Paulweber, B.* ; Kronenberg, F.*

A systematic evaluation of short tandem repeats in lipid candidate genes: Riding on the SNP-wave.

PLoS ONE 9:e102113 (2014)
Publ. Version/Full Text DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Structural genetic variants as short tandem repeats (STRs) are not targeted in SNP-based association studies and thus, their possible association signals are missed. We systematically searched for STRs in gene regions known to contribute to total cholesterol, HDL cholesterol, LDL cholesterol and triglyceride levels in two independent studies (KORA F4, n = 2553 and SAPHIR, n = 1648), resulting in 16 STRs that were finally evaluated. In a combined dataset of both studies, the sum of STR alleles was regressed on each phenotype, adjusted for age and sex. The association analyses were repeated for SNPs in a 200 kb region surrounding the respective STRs in the KORA F4 Study. Three STRs were significantly associated with total cholesterol (within LDLR, the APOA1/C3/A4/A5/BUD13 gene region and ABCG5/8), five with HDL cholesterol (3 within CETP, one in LPL and one inAPOA1/C3/A4/A5/BUD13), three with LDL cholesterol (LDLR, ABCG5/8 and CETP) and two with triglycerides (APOA1/C3/A4/A5/BUD13 and LPL). None of the investigated STRs, however, showed a significant association after adjusting for the lead or adjacent SNPs within that gene region. The evaluated STRs were found to be well tagged by the lead SNP within the respective gene regions. Therefore, the STRs reflect the association signals based on surrounding SNPs. In conclusion, none of the STRs contributed additionally to the SNP-based association signals identified in GWAS on lipid traits.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genome-wide Association; Population-genetics; Gilberts-syndrome; Heart-disease; Shadow Bands; Cetp Gene; Polymorphism; Caucasians; Imputation; Evolution
ISSN (print) / ISBN 1932-6203
Journal PLoS ONE
Quellenangaben Volume: 9, Issue: 7, Pages: , Article Number: e102113 Supplement: ,
Publisher Public Library of Science (PLoS)
Publishing Place Lawrence, Kan.
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology II (EPI2)
Institute of Human Genetics (IHG)