TY - JOUR
T1 - The Contribution of the Functional IL6R Polymorphism rs2228145, eQTLs and Other Genome-Wide SNPs to the Heritability of Plasma sIL-6R Levels
AU - van Dongen, J.
AU - Jansen, R.
AU - Smit, D.J.A.
AU - Hottenga, J.J.
AU - Mbarek, H.
AU - Willemsen, G.
AU - Kluft, C.
AU - Penninx, B.W.J.H.
AU - Ferreira, M.A.
AU - Boomsma, D.I.
AU - de Geus, E.J.C.
PY - 2014
Y1 - 2014
N2 - 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. © 2014 Springer Science+Business Media.
AB - 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. © 2014 Springer Science+Business Media.
U2 - 10.1007/s10519-014-9656-8
DO - 10.1007/s10519-014-9656-8
M3 - Article
SN - 0001-8244
VL - 44
SP - 368
EP - 382
JO - Behavior Genetics
JF - Behavior Genetics
IS - 4
ER -
