Hum Reprod 2017 04;32(4):780-793
Endometriosis CaRe Centre, Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, UK.
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Hum Reprod 2016 May 22;31(5):999-1013. Epub 2016 Mar 22.
Department of Obstetrics and Gynaecology, University of Melbourne, Gynaecology Research Centre, Royal Women's Hospital, Level 7, 20 Flemington Road, Parkville, Victoria 3052, Australia
Study Question: Do endometriosis risk-associated single nucleotide polymorphisms (SNPs) found at the 12q22 locus have effects on vezatin ( ITALIC! VEZT) expression?
Summary Answer: The original genome-wide association study (GWAS) SNP (rs10859871), and other newly identified association signals, demonstrate strong evidence for ITALIC! cis-expression quantitative trait loci (eQTL) effects on ITALIC! VEZT expression.
What Is Known Already: GWAS have identified several disease-risk loci (SNPs) associated with endometriosis. The SNP rs10859871 is located within the ITALIC! VEZT gene. Read More
Hum Reprod 2015 Jan 21;30(1):239-48. Epub 2014 Oct 21.
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Study Question: Are single-nucleotide polymorphisms (SNPs) at the interleukin 1A (IL1A) gene locus associated with endometriosis risk?
Summary Answer: We found evidence for strong association between IL1A SNPs and endometriosis risk.
What Is Known Already: Genetic factors contribute substantially to the complex aetiology of endometriosis and the disease has an estimated heritability of ∼51%. We, and others, have conducted genome-wide association (GWA) studies for endometriosis, which identified a total of nine independent risk loci. Read More
Hum Reprod Update 2014 Sep-Oct;20(5):702-16. Epub 2014 Mar 27.
Wellcome Trust Center for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Background: Endometriosis is a heritable common gynaecological condition influenced by multiple genetic and environmental factors. Genome-wide association studies (GWASs) have proved successful in identifying common genetic variants of moderate effects for various complex diseases. To date, eight GWAS and replication studies from multiple populations have been published on endometriosis. Read More
Hum Reprod 2015 Apr 11;30(4):987-93. Epub 2015 Feb 11.
Molecular Biology Laboratory, Istituto Auxologico Italiano, Milano, Italy.
Study Question: Is it possible to replicate the genetic association of single nucleotide polymorphisms (SNPs) rs13394619, rs4141819, rs7739264, rs17694933 and rs10859871 in five genetic loci previously identified as associated with endometriosis in an Italian Caucasian population?
Summary Answer: SNP rs10859871 near the vezatin (VEZT) gene was found to be significantly associated with endometriosis in general while SNPs rs17694933 and rs4141819 were associated with Stage III/IV and ovarian disease, respectively.
What Is Known Already: Endometriosis represents a complex disease in which the phenotypic manifestations are influenced by both genetic and environmental factors. Recent genome-wide association studies (GWASs) have allowed to identify some SNPs associated with the predisposition to the disease. Read More