Coding regions of INHBA, SFRP4 and HOXA10 are not implicated in familial endometriosis linked to chromosome 7p13-15

Lin J, Jun Lin, J Lin, Zong L, Lili Zong, L Zong, Kennedy SH, S H Kennedy, Stephen Kennedy, Krina T. Zondervan, K T Zondervan
Molecular human reproduction · 2011 · vol. 17(10) , pp. 605–611 · doi:10.1093/molehr/gar035 · PMID:21576276 · PMC3172037 · W2156287352
Other OA: bronze CC0 ⤵ 13 in-corpus citations
📄 Open PDF View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-07 ⓘ

This study sequenced coding and regulatory regions of INHBA, SFRP4, and HOXA10 genes and found no causal mutations responsible for endometriosis linkage on chromosome 7p13-15 in affected families.

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

Abstract

Endometriosis is a common, chronic gynaecological disease affecting up to 10% of women in their reproductive years. Its aetiology still remains unclear, but evidence indicates genetic factors play a role. We previously identified a region of significant linkage on chromosome 7 in 52 families comprising at least three affected women, stretching ∼6.4 Mb. We screened coding regions and parts of the regulatory regions of three candidate genes with a known role in endometrial development and function-INHBA, SFRP4 and HOXA10-located under or very near the linkage peak, for potential causal mutations using Sanger sequencing. Sequencing was conducted in 47 cases from the 15 families contributing most to the linkage signal (Z(mean) ≥ 1). Minor allele frequencies (MAFs) of observed variants were compared with MAFs from two publicly available reference populations of European ancestry: 60 individuals in HapMap and 150 individuals in the 1000 Genomes Project. A total of 11 variants were found, 5 (45%) of which were common (MAF > 0.05) among the 15 case families and the reference populations (P-values for MAF difference: 0.88-1.00). The remaining six were rare and unlikely to be individually or cumulatively responsible for the linkage signal. The results indicate that the coding regions of these three genes do not harbour mutations responsible for linkage to endometriosis in these families.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Genetic Predisposition to Disease Homeodomain Proteins Inhibin-beta Subunits Proto-Oncogene Proteins Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 7 Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Genetic Linkage Genetic Linkage Genetic Testing Genetic Testing Genome, Human

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 (39)

Cited by (13)

Source provenance

europepmc
last seen: 2026-10-17T06:09:56.316927+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-08T21:08:55.161857+00:00
License: CC0 · commercial use OK