Analysis of common variations in tumor-suppressor genes on chr1p36 among Caucasian women with endometriosis

Henrik Falconer, Sundqvist J, Johanna Sundqvist, Xu H, Hong Xu, Vodolazkaia A, Alexandra Vodolazkaia, Amelie Fassbender, Fassbender A, Cleophas Kyama, Attila Bokor, Bokor A, Thomas D'Hooghe, Thomas D’Hooghe, Thomas M D'Hooghe, D'Hooghe TM
Gynecologic oncology · 2012 · vol. 127(2) , pp. 398–402 · doi:10.1016/j.ygyno.2012.08.013 · PMID:22910690 · W2014727486
article OA: closed CC0 ⤵ 11 in-corpus citations
View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study analyzed common variations in tumor-suppressor genes located on chromosome 1p36 in Caucasian women diagnosed with endometriosis.

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

Abstract

ObjectiveEpidemiological data indicate that endometriosis increases the risk of epithelial ovarian cancer (EOC), but the mechanism of cancer transition is unknown. Results from genome-wide association studies (GWAS) and transcriptome sequencing have demonstrated that genes located in the 1p36 region are important in both endometriosis and endometriosis-associated cancer development. Therefore, we tested the hypothesis that SNPs in two tumor-suppressor genes (CHD5 and ARID1A) in the 1p36 region are associated with endometriosis.MethodsAllele frequencies of SNPs were investigated in 1685 Caucasian women consisting of 947 women with endometriosis and 738 controls. Peripheral blood samples were retrieved, DNA extracted and allelic frequencies of SNPs in two tumor-suppressor genes (CHD5 and ARID1A) were analyzed using TaqMan Open Array technique.ResultsAssociations were observed for 3 SNPs in the CHD5 gene: rs1883603 (OR 1.31, 95% CI 1.00-1.71), rs9434741 (OR 1.41, 95% CI 1.16-1.71) and rs17436816 (OR 1.24, 95% CI 1.02-1.50). After correction for multiple comparisons, rs9434741 (CHD5) remained significantly associated with endometriosis (p<0.01). No associations were detected for ARID1A.ConclusionsIn this Caucasian population, endometriosis seems to be associated with the tumor-suppressor gene CHD5. Our findings support recent data, suggesting that the 1p36 region plays an important role in endometrios. To validate these data, replication in an independent population is warranted.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

DNA Helicases Endometriosis Nerve Tissue Proteins Nuclear Proteins Polymorphism, Single Nucleotide Transcription Factors Adult Belgium Case-Control Studies DNA-Binding Proteins DNA Helicases Endometriosis Endometriosis Female Gene Frequency Genetic Markers Genotyping Techniques Humans Nerve Tissue Proteins Nuclear Proteins

Citation neighborhood

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. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (25)

Cited by (11)

Source provenance

europepmc
last seen: 2026-07-28T06:14:09.330459+00:00
openalex
last seen: 2026-06-04T00:00:01.174412+00:00
pubmed
last seen: 2026-05-13T22:16:04.919516+00:00
unpaywall
last seen: 2026-06-13T06:42:57.164913+00:00
License: CC0 · commercial use OK