Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Dale Nyholt and colleagues report a genome-wide association meta-analysis of endometriosis in individuals of Japanese and European ancestry. They report a new susceptibility locus at 12q22 and establish an association at 2p25.1.
We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese
1
and European
2
ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, replicates in Japanese (
P
= 3.6 × 10
−3
), and we confirm association of rs7521902 at 1p36.12 near
WNT4
. In addition, we establish an association of rs13394619 in
GREB1
at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near
VEZT
(rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at
P
<5 × 10
−8
in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the genome-wide association cohorts of European and Japanese descent (
P
= 8.8 × 10
−11
), indicating that many weakly associated SNPs represent true endometriosis risk loci and that risk prediction and future targeted disease therapy may be transferred across these populations.