Abstract:
: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.
journal_name
Behav Genetjournal_title
Behavior geneticsauthors
van Dongen J,Jansen R,Smit D,Hottenga JJ,Mbarek H,Willemsen G,Kluft C,AAGC Collaborators.,Penninx BW,Ferreira MA,Boomsma DI,de Geus EJdoi
10.1007/s10519-014-9656-8subject
Has Abstractpub_date
2014-07-01 00:00:00pages
368-82issue
4eissn
0001-8244issn
1573-3297journal_volume
44pub_type
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