Clinica Ostetrica e Ginecologica, Istituto Luigi Mangiagalli, Università degli Studi, Milan, Italy.
Gynecol Obstet Invest. 2014;77(3):201-4. doi: 10.1159/000360290. Epub 2014 Mar 12.
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.
子宫内膜异位症受遗传和环境因素的影响。遗传因素约占子宫内膜异位症变异的一半。然而，子宫内膜异位症的遗传学仍然很复杂，部分问题尚未解决，但最近，基于少数全基因组关联研究的结果，一些遗传易感性位点已被确定与该疾病有很强的关联，为导致子宫内膜异位症的潜在途径提供了新的见解。在这里，我们介绍了一个由 3 姐妹及其母亲组成的家族性病例，她们都患有子宫内膜异位症。在这个单一家庭的所有成员中，都观察到了由疾病侵袭性引起的非常严重的妇科和产科并发症。对整个家庭进行了 3 种单核苷酸多态性的基因分型，这些多态性与子宫内膜异位症有关。rs1333049 变体在 CDKN2BAS 基因座中的风险等位基因 G 被所有家族成员纯合。基因型-表型关联只是子宫内膜异位症研究的开始，有望为疾病诊断和治疗提供新的概念。
