A Rare Familial Case of Endometriosis with Very Severe Gynecological and Obstetric Complications : Novel Genetic Variants at a Glance
Articolo
Data di Pubblicazione:
2014
Citazione:
A Rare Familial Case of Endometriosis with Very Severe Gynecological and Obstetric Complications : Novel Genetic Variants at a Glance / L. Buggio, L. Pagliardini, D. Gentilini, L. De Braud, P. Viganò, P. Vercellini. - In: GYNECOLOGIC AND OBSTETRIC INVESTIGATION. - ISSN 0378-7346. - 77:3(2014 Mar 12), pp. 201-204. [10.1159/000360290]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
CDKN2BAS gene; Endometriosis; Hemoperitoneum in pregnancy; Rectovaginal endometriosis
Elenco autori:
L. Buggio, L. Pagliardini, D. Gentilini, L. De Braud, P. Viganò, P. Vercellini
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