title: A rare familial case of endometriosis with very severe gynecological and obstetric complications: novel genetic variants at a glance.
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.
authors.affiliation: Clinica Ostetrica e Ginecologica, Istituto Luigi Mangiagalli, Università degli Studi, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Buggio
authors.forename: Luca
authors.initials: L
authors.lastname: Pagliardini
authors.forename: Davide
authors.initials: D
authors.lastname: Gentilini
authors.forename: Lucrezia
authors.initials: L
authors.lastname: De Braud
authors.forename: Paola
authors.initials: P
authors.lastname: Viganò
authors.forename: Paolo
authors.initials: P
authors.lastname: Vercellini
mesh_terms: D000328:Adult; D004200:Diseases in Twins / Q000235:genetics*; D004715:Endometriosis / Q000150:complications / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008022:Ligaments; D020641:Polymorphism, Single Nucleotide; D012002:Rectal Diseases / Q000150:complications / Q000235:genetics*; D001745:Urinary Bladder Diseases / Q000150:complications / Q000235:genetics*; D014623:Vaginal Diseases / Q000150:complications / Q000235:genetics*