| Autor: |
van Dongen J; Department of Biological Psychology, VU University Amsterdam, Van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands, j.van.dongen@vu.nl., Jansen R, Smit D, Hottenga JJ, Mbarek H, Willemsen G, Kluft C, Penninx BW, Ferreira MA, Boomsma DI, de Geus EJ |
| Jazyk: |
angličtina |
| Zdroj: |
Behavior genetics [Behav Genet] 2014 Jul; Vol. 44 (4), pp. 368-82. Date of Electronic Publication: 2014 May 03. |
| DOI: |
10.1007/s10519-014-9656-8 |
| Abstrakt: |
The non-synonymous SNP rs2228145 in the IL6R gene on chromosome 1q21.3 is associated with a wide range of common diseases, including asthma, rheumatoid arthritis, type 1 diabetes and coronary heart disease. We examined the contribution of this functional IL6R gene polymorphism rs2228145 versus other genome-wide SNPs to the variance of sIL-6R levels in blood plasma in a large population-based sample (N ~5,000), and conducted an expression QTL analysis to identify SNPs associated with IL6R gene expression. Based on data from 2,360 twin families, the broad heritability of sIL-6R was estimated at 72 and 51% of the total variance was explained by the functional SNP rs2228145. Converging findings from GWAS, linkage, and GCTA analyses indicate that additional variance of sIL-6R levels can be explained by other variants in the IL6R region, including variants at the 3'-end of IL6R tagged by rs60760897 that are associated with IL6R RNA expression. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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