Suchon P, Al Frouh F, Ibrahim M, Sarlon G, Venton G, Alessi M-C, Trégouët D-A, Morange P-E
AIx Marseille Univ, INSERM, INRA, NORT, Marseille, France.
APHM, Hôpital de la Timone, Service d'hématologie biologique, Marseille, France.
Clin Genet. 2017 Jan;91(1):131-136. doi: 10.1111/cge.12833. Epub 2016 Aug 22.
Identifying women at risk of venous thrombosis (VT) under combined oral contraceptives (COC) is a major public health issue. The aim of this study was to investigate in COC users the impact on disease of genetic polymorphisms recently identified to associate with VT risk in the general population. Nine polymorphisms located on KNG1, F11, F5, F2, PROCR, FGG, TSPAN and SLC44A2 genes were genotyped in a sample of 766 patients and 464 controls as part of the PILGRIM (PILl Genetic Risk Monitoring) study. Cases were women who experienced an episode of documented VT during COC use, while controls were women with no history of VT using COC at the time of inclusion. Among the studied polymorphisms, only F11 rs2289252 was significantly associated with VT. The F11 rs2289252-A allele was associated with a 1.6-fold increased risk of VT (p < 0.0001). Besides, the combination of the rs2289252-A allele with non-O blood group, present in 52% of the cohort, was associated with an odds ratio of 4.00 (2.49-6.47; p < 10 ). The consideration of this genetic risk factor could help to better assess the risk of VT in COC users.
识别服用复方口服避孕药（COC）的女性静脉血栓形成（VT）风险是一个重大的公共卫生问题。本研究的目的是调查在COC使用者中，最近在普通人群中发现的与VT风险相关的基因多态性对疾病的影响。作为PILGRIM（PILl遗传风险监测）研究的一部分，对766例患者和464例对照样本中的KNG1、F11、F5、F2、PROCR、FGG、TSPAN和SLC44A2基因上的9种多态性进行了基因分型。病例为在服用COC期间发生过有记录的VT发作的女性，而对照为纳入时正在服用COC但无VT病史的女性。在研究的多态性中，只有F11 rs2289252与VT显著相关。F11 rs2289252 - A等位基因与VT风险增加1.6倍相关（p < 0.0001）。此外，rs2289252 - A等位基因与非O血型的组合（在队列中占52%）与比值比为4.00（2.49 - 6.47；p < 10）相关。考虑这一遗传风险因素有助于更好地评估COC使用者的VT风险。
