Replication of endometriosis-associated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population

Jonas Sundqvist, Sundqvist J, J Sundqvist, Xu H, H Xu, Hong Xu, Vodolazkaia A, A Vodolazkaia, Alexandra Vodolazkaia, Amelie Fassbender, A Fassbender, Fassbender A, Cleophas Kyama, C Kyama, A Bokor, Attila Bokor, Bokor A, Kristina Gemzell‐Danielsson, Gemzell-Danielsson K, K Gemzell-Danielsson, D'Hooghe TM, Thomas D'Hooghe, Thomas D’Hooghe, T M D'Hooghe, Henrik Falconer, H Falconer, Falconer H
Human Reproduction · 2013 · vol. 28(3) , pp. 835–839 · doi:10.1093/humrep/des457 · PMID:23315067 · W2097256595
Observational OA: bronze CC0 ⤵ 27 in-corpus citations
📄 Open PDF View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-09 ⓘ

This study found a borderline association between SNP rs1250248 and endometriosis, but failed to replicate associations for three other previously identified SNPs in a Caucasian population.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

Abstract

STUDY QUESTION: Is it possible to replicate the previously identified genetic association of four single-nucleotide polymorphisms (SNPs), rs12700667, rs7798431, rs1250248 and rs7521902, with endometriosis in a Caucasian population? SUMMARY ANSWER: A borderline association was observed for rs1250248 and endometriosis (P = 0.049). However, we could not replicate the other previously identified endometriosis-associated SNPs (rs12700667, rs7798431 and rs7521902) in the same population. WHAT IS KNOWN ALREADY: Endometriosis is considered a complex disease, influenced by several genetic and environmental factors, as well as interactions between them. Previous studies have found genetic associations with endometriosis for SNPs at the 7p15 and 2q35 loci in a Caucasian population. STUDY DESIGN, SIZE, DURATION: Allele frequencies of SNPs were investigated in patients with endometriosis and controls. PARTICIPANTS/MATERIALS, SETTING, METHODS: Blood samples and peritoneal biopsies were taken from a Caucasian female population consisting of 1129 patients with endometriosis and 831 controls. DNA was extracted for genotyping. The study was performed at a University hospital and research laboratories. MAIN RESULTS AND THE ROLE OF CHANCE: A weak association with endometriosis (all stages) was observed for rs1250248 (P = 0.049). No significant associations were observed for the SNPs rs12700667, rs7798431 and rs7521902. A non-significant trend towards the association of rs1250248 with moderate/severe endometriosis was observed (odds ratio 1.18, 95% confidence interval 0.97-1.44). LIMITATIONS, REASONS FOR CAUTION: The inability to confirm all previous findings may result from differences between populations and type II errors. WIDER IMPLICATIONS OF THE FINDINGS: Our result demonstrates the difficulty of identifying common genetic variants in complex diseases. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by grants from the Karolinska Institutet and Stockholm City County/Karolinska Institutet (ALF), Stockholm, Sweden, Swedish Medical Research Council (K2007-54X-14212-06-3, K2010-54X-14212-09-3), Stockholm, Sweden, Leuven University Research Council (Onderzoeksraad KU Leuven), the Leuven University Hospitals Clinical Research Foundation (Klinisch onderzoeksfonds) and by the National Scientific Foundation (Fonds voor Wetenschappelijk Onderzoek, FWO). The authors have no conflict of interest.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 2 Endometriosis Fibronectins Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide 5' Flanking Region 5' Flanking Region Adult Adult Alleles Alleles Basic-Leucine Zipper Transcription Factors Basic-Leucine Zipper Transcription Factors Basic-Leucine Zipper Transcription Factors Basic-Leucine Zipper Transcription Factors Belgium Belgium Biopsy Biopsy

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (21)

Cited by (27)

Source provenance

europepmc
last seen: 2026-10-30T06:09:08.764285+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-08T21:11:19.299510+00:00
License: CC0 · commercial use OK