Genetic risk factors predispose to thrombophilia and play the most important etiopathogenic role in venous thromboembolism (VTE) in people younger than 50 years old. At least one inherited risk factor could be found in about half of the cases with a first episode of idiopathic VTE.Roughly, genetic risk factors are classified into two main categories: loss of function mutations (such as deficiencies of antithrombin, protein C, protein S) and gain of function mutations, (such as prothrombin mutation G20210A, factor V Leiden). A revolutionary contribution to the genetic background of VTE was brought by the achievements of the genome-wide association studies which analyze the association of a huge number of polymorphisms in large sample size.Hereditary thrombophilia testing should be done only in selected cases. The detection of hereditary thrombophilia has impact on the management of the anticoagulation in children with purpura fulminans, pregnant women at risk of VTE and may be useful in the assessment of the risk for recurrent thrombosis in patients presenting an episode of VTE at a young age (<40 years) and in cases with positive family history regarding thrombosis.

Background and aims. Obesity is associated with numerous pathological conditions, including venous thromboembolism (VTE). VTE is a multifactorial disease; more than half of the hospitalized patients are at risk for VTE. We aimed to assess the risk of VTE associated with obesity, taking into account the class of obesity (according to the body mass index), gender, age and the intervention of other acquired risk factors. Method. A case-control study including 732 patients was designed. Collected data included: age, gender, body mass index, pregnancy/ postpartum state, use of hormonal therapy, personal and family history of VTE, smoking, prolonged immobilization and the presence of comorbidities- acquired risk factors for VTE. The risk of VTE was expressed as odds ratio (OR) with 95% confidence interval. Multiple logistic regression analysis was used to detect the independent risk factors. P value < 0.05 was considered significant statistic. Results. Obesity was associated with a 6.2- fold increased risk for VTE. The risk of VTE associated with obesity was highest in patients aged >50 years and in cases included in classes II and III of obesity. The interaction between obesity and another acquired risk factor has almost doubled the risk of VTE. Multivariate logistic regression analysis showed obesity as an independent risk factor for VTE for both female and male patients. Conclusion. Obesity is an independent and moderate risk factor for VTE. The risk increases with body mass index, age and the presence of other acquired risk factors.

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome Ⅲ criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previous 3 mo associated with two or more of the following symptoms: improvement with defecation, onset associated with a change in the frequency of stool and/or onset associated with a change in form or appearance of stool. There is growing evidence regarding the genetic contribution in IBS, however the precise etiology of IBS is still unknown. The evaluation of the genetic influence is based on twin studies, familial aggregation and genetic epidemiological investigations. Most studies showed a concordance for IBS significantly greater in monozygotic than in dizygotic twins. The majority of the studies have shown that familial aggregation may represent exposures to a similar environment, as well as the influence of genetic factors. Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T ), cholecystokinin receptor (CCKAR gene 779T>C), and high-producer tumor necrosis factor genotype. Further studies are necessary to determine how genetic factors influence the clinical manifestations and therapeutical response in IBS patients.