TY - JOUR
T1 - Conditional eQTL analysis reveals allelic heterogeneity of gene expression
AU - Jansen, Rick
AU - Hottenga, Jouke-Jan
AU - Nivard, Michel G
AU - Abdellaoui, A.
AU - Laport, Bram
AU - de Geus, Eco J
AU - Wright, Fred A
AU - Penninx, Brenda W J H
AU - Boomsma, Dorret I
PY - 2017/4/15
Y1 - 2017/4/15
N2 - In recent years, multiple eQTL (expression quantitative trait loci) catalogs have become available that can help understand the functionality of complex trait-related single nucleotide polymorphisms (SNPs). In eQTL catalogs, gene expression is often strongly associated with multiple SNPs, which may reflect either one or multiple independent associations. Conditional eQTL analysis allows a distinction between dependent and independent eQTLs. We performed conditional eQTL analysis in 4,896 peripheral blood microarray gene expression samples. Our analysis showed that 35% of genes with a cis eQTL have at least two independent cis eQTLs; for several genes up to 13 independent cis eQTLs were identified. Also, 12% (671) of the independent cis eQTLs identified in conditional analyses were not significant in unconditional analyses. The number of GWAS catalog SNPs identified as eQTL in the conditional analyses increases with 24% as compared to unconditional analyses. We provide an online conditional cis eQTL mapping catalog for whole blood (https://eqtl.onderzoek.io/), which can be used to lookup eQTLs more accurately than in standard unconditional whole blood eQTL databases.
AB - In recent years, multiple eQTL (expression quantitative trait loci) catalogs have become available that can help understand the functionality of complex trait-related single nucleotide polymorphisms (SNPs). In eQTL catalogs, gene expression is often strongly associated with multiple SNPs, which may reflect either one or multiple independent associations. Conditional eQTL analysis allows a distinction between dependent and independent eQTLs. We performed conditional eQTL analysis in 4,896 peripheral blood microarray gene expression samples. Our analysis showed that 35% of genes with a cis eQTL have at least two independent cis eQTLs; for several genes up to 13 independent cis eQTLs were identified. Also, 12% (671) of the independent cis eQTLs identified in conditional analyses were not significant in unconditional analyses. The number of GWAS catalog SNPs identified as eQTL in the conditional analyses increases with 24% as compared to unconditional analyses. We provide an online conditional cis eQTL mapping catalog for whole blood (https://eqtl.onderzoek.io/), which can be used to lookup eQTLs more accurately than in standard unconditional whole blood eQTL databases.
KW - Journal Article
UR - http://www.scopus.com/inward/record.url?scp=85018726619&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85018726619&partnerID=8YFLogxK
U2 - https://doi.org/10.1093/hmg/ddx043
DO - https://doi.org/10.1093/hmg/ddx043
M3 - Article
C2 - 28165122
VL - 26
SP - 1444
EP - 1451
JO - Human molecular genetics
JF - Human molecular genetics
SN - 0964-6906
IS - 8
M1 - ddx043
ER -