A Rare Familial Case of Endometriosis with Very Severe Gynecological and Obstetric Complications: Novel Genetic Variants at a Glance

Laura Buggio, Luca Pagliardini, Davide Gentilini, Lucrezia De Braud, Paola Viganò, Paolo Vercellini
Gynecologic and obstetric investigation · 2014 · vol. 77(3) , pp. 201–204 · doi:10.1159/000360290 · PMID:24642913 · W2047904423
article OA: closed CC0 ⤵ 8 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study investigated a family with multiple endometriosis cases and severe complications, finding all members were homozygotes for the risk allele G at the rs1333049 variant in the CDKN2BAS locus.

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Abstract

Endometriosis is influenced by both genetic and environmental factors. Genetic factors make up about half of the variation in endometriosis. Nevertheless, the genetics of endometriosis remains complex and in part unsolved, but recently, based on the results of few genome-wide association studies, some genetic susceptibility loci have been identified as associated robustly with the disease, providing new insights into potential pathways leading to endometriosis. Here, we present the case of a familial cluster composed by 3 sisters and their mother, all affected by endometriosis. Very severe gynecological and obstetric complications caused by the invasiveness of the disease have been observed in all members of the single family. The entire family has been genotyped for 3 single-nucleotide polymorphisms identified as associated with endometriosis. All the family members were homozygotes for the risk allele G for the rs1333049 variant in the CDKN2BAS locus. The genotype-phenotype association is just at the beginning of endometriosis research promising to face novel concepts for disease diagnosis and treatment.

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Condition tags

endometriosis

MeSH descriptors

Diseases in Twins Endometriosis Ligaments Rectal Diseases Urinary Bladder Diseases Vaginal Diseases Adult Diseases in Twins Endometriosis Endometriosis Female Genotype Humans Polymorphism, Single Nucleotide Rectal Diseases Rectal Diseases Urinary Bladder Diseases Urinary Bladder Diseases Vaginal Diseases Vaginal Diseases

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 (15)

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