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Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy

Ectopic pregnancy is an important cause of maternal morbidity and mortality worldwide. To better understand the genetic risk factors underlying this pregnancy complication, we conduct a GWAS meta-analysis and identify two genome-wide significant loci on chromosomes 1 (rs4971091, p=5.32x10-9) and 10 (rs11598956, p=2.41x10-8). Follow-up analyses propose MUC1, an epithelial glycoprotein with an important role in barrier function, as the most likely candidate for the association on chromosome 1. We also characterise the phenotypic and genetic correlations with other phenotypes, identifying a genetic correlation with smoking and diseases of the (genito)urinary and gastrointestinal system, and phenotypic correlations with various reproductive health diagnoses, reflecting the previously known epidemiological associations.