The VITA Project: Prothrombin G20210A Mutation and Venous Thromboembolism in the General Population

1999 ◽  
Vol 82 (11) ◽  
pp. 1395-1398 ◽  
Author(s):  
Alberto Tosetto ◽  
Edoardo Missiaglia ◽  
Maurizio Frezzato ◽  
Francesco Rodeghiero
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
General Population ◽  
Odds Ratio ◽  
Genetic Variant ◽  
Population Based ◽  
Prothrombin G20210a ◽  
Cross Sectional ◽  
G20210a Mutation ◽  
Increased Risk

SummaryRecently a new identified genetic variant in the 3’-untranslated region of the prothrombin gene (G20210A allele) associated with increased plasma prothrombin levels has been linked to an increased risk of venous thromboembolism (VTE). Most of our knowledge on the G20210A allele as a risk factor for VTE derives from a population-based case-control study and from studies on selected series of VTE patients. To determine the importance of the G20210A allele as a causative risk factor for VTE in the general population, we analyzed the cross-sectional data of the Vicenza Thrombophilia and Atherosclerosis (VITA) Project. One hundred sixteen cases of VTE, ascertained in a random fashion within the general population aged 18-65, were age and sex-matched with 232 healthy subjects. Heterozygosity for the G20210A allele was present in 4.3% of VTE cases and in 3.4% of controls, indicating a marginal increase of VTE risk in carriers of the allele (odds ratio: 1.26; 95% CI 0.4-3.9). However, the VTE risk was substantially higher in subjects with idiopathic VTE before age 45 or with recurrent, idiopathic VTE (odds ratio: 2.8; 95% CI 0.6-13.8) or in subjects with a family history of VTE (odds ratio: 7.6; 95% CI 1.8-32.8). Accordingly, our results suggest that the G20210A allele associates with VTE only in selected cases, and that screening for this genetic variant is not warranted for all patients with VTE.

scholarly journals Type and Location of Venous Thromboembolism in Carriers of Factor V Leiden or Prothrombin G20210A Mutation Versus Patients With No Mutation

2008 ◽  
Vol 16 (1) ◽  
pp. 66-70 ◽  
Author(s):  
Mirjana Kovac ◽  
Gorana Mitic ◽  
Zeljko Mikovic ◽  
Nebojsa Antonijevic ◽  
Valentina Djordjevic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Venous Thromboembolism ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Transverse Sinus ◽  
Prothrombin G20210a ◽  
Factor V ◽  
G20210a Mutation ◽  
Increased Risk

Factor V Leiden (FVLeiden) and prothrombin G20210A are the most common genetic causes of thrombophilia and established risk factors for different clinical manifestations of venous thromboembolism (VTE). This study investigated whether the clinical manifestation of VTE, the extension of deep vein thrombosis (DVT) and the presence of transient risk factors at the time of the first VTE, differed among patients with mutations (97 with FVLeiden; 33 with prothrombin G20210A) and in 109 patients without thrombophilia. Isolated pulmonary embolism (PE) was less prevalent in patients with FVLeiden (6%) and no thrombophilia (6%) than in those with prothrombin G20210A (15%). No difference was found in the incidence of distal DVT. Regarding the extension of proximal DVT, the lowest incidence for isolated popliteal vein and the highest for iliofemoral vein were observed in patients with prothrombin G20210A. No difference was observed between groups of patients with or without thrombophilia by unprovoked VTE. The pregnancy/puerperium was the most prevalent risk factor in carriers of prothrombin G20210A. Among FVLeiden carriers, the most prevalent risk factor was surgery, and in patients without thrombophilia, it was trauma ( P < .05). Thrombosis of the upper limb was more frequent in a group without thrombophilia than in patients with mutations ( P < .01). Transverse sinus venous thrombosis was present only in patients with prothrombin G20210A. Carriers of prothrombin G20210A have an increased risk of developing isolated PE and more severe clinical manifestations than those with FVLeiden or without thrombophilia.

Allele 4G of gene PAI-1 associated with prothrombin mutation G20210A increases the risk for venous thrombosis

2003 ◽  
Vol 90 (12) ◽  
pp. 1061-1064 ◽  
Author(s):  
Doris Barcellona ◽  
Lara Fenu ◽  
Cristiana Cauli ◽  
Giulia Pisu ◽  
Francesco Marongiu
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Odds Ratio ◽  
Final Conclusion ◽  
Thrombotic Risk ◽  
G20210a Mutation ◽  
Increased Risk ◽  
Prothrombin Mutation ◽  
Pai 1

SummarySeveral studies have tried to clarify the role of polymorphism 4G/5G of the PAI-1 gene in venous thromboembolism without reaching any final conclusion. It has been demonstrated that this polymorphism may induce an increased risk for venous thromboembolism (VTE) in patients with thrombophilic defects. We studied the association of prothrombin mutation G20210A with 4G/5G polymorphism in 402 VTE patients and 466 healthy controls. Patients affected by prothrombin mutation G20210A, with or without the concomitant presence of allele 4G, had a 3.7 thrombotic risk (C.I. 95% 2.3–6.0; p<0.0001). Moreover, genotype 4G/4G is a mild risk factor for VTE, irrespectively of whether the prothrombin mutation was present.Logistic regression analysis showed that patients carrying the G20210A prothrombin mutation with allele 4G gave an odds ratio for VTE of 6.1 (C.I. 95% 3.2 – 11.4; p<0.001). The risk increased up to 13.0 (C.I. 95% 3.0 – 60.4; p<0.001) when we considered the association of the prothrombin mutation with genotype 4G/4G. The G20210A mutation without allele 4G (5G/5G) was not a risk factor for VTE. In conclusion, we believe that patients affected by VTE with concomitant presence of the G20210A prothrombin mutation could be tested for genotype 4G/4G to better define their thrombotic risk.

scholarly journals TSH Levels as an Independent Risk Factor for NAFLD and Liver Fibrosis in the General Population

2021 ◽  
Vol 10 (13) ◽  
pp. 2907
Author(s):  
Alba Martínez-Escudé ◽  
Guillem Pera ◽  
Anna Costa-Garrido ◽  
Lluís Rodríguez ◽  
Ingrid Arteaga ◽  
...  
Keyword(s):  
Risk Factor ◽  
Liver Fibrosis ◽  
General Population ◽  
Transient Elastography ◽  
Atherogenic Dyslipidemia ◽  
Control Group ◽  
Cross Sectional ◽  
Alcoholic Fatty Liver ◽  
Increased Risk ◽  
Tsh Levels

Thyroid hormones may be a risk factor for the development of non-alcoholic fatty liver disease (NAFLD) and its progression to liver fibrosis. The aim of this study is to investigate the relationship between thyroid stimulating hormone (TSH) levels, NAFLD, and liver fibrosis in the general population. A descriptive cross-sectional study was performed in subjects aged 18–75 years randomly selected from primary care centers between 2012 and 2016. Each subject underwent clinical evaluation, physical examination, blood tests and transient elastography. Descriptive and multivariate logistic regression analyses were used to identify factors associated with NAFLD and fibrosis. We included 2452 subjects (54 ± 12 years; 61% female). Subjects with TSH ≥ 2.5 μIU/mL were significantly associated with obesity, atherogenic dyslipidemia, metabolic syndrome (MetS), hypertransaminasemia and altered cholesterol and triglycerides. The prevalence of NAFLD and liver fibrosis was significantly higher in subjects with TSH ≥ 2.5 (μIU/mL). We found a 1.5 times increased risk of NAFLD, 1.8 and 2.3 times increased risk of liver fibrosis for cut-off points of ≥ 8.0 kPa and ≥ 9.2 kPa, respectively, in subjects with TSH ≥ 2.5 μIU/mL compared with TSH < 2.5 μIU/mL (control group), independent of the presence of MetS. These findings remained significant when stratifying TSH, with values ≥ 10 μIU/mL.

Is APC Resistance a Risk Factor for Venous Thromboembolism in Patients over 70 Years?

2002 ◽  
Vol 88 (10) ◽  
pp. 587-591 ◽  
Author(s):  
Karine Lacut ◽  
Grégoire Le Gal ◽  
Patrick Van Dreden ◽  
Luc Bressollette ◽  
Pierre-Yves Scarabin ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Odds Ratio ◽  
Dna Analysis ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Factor V ◽  
Apc Resistance ◽  
Increased Risk ◽  
History Of

SummaryActivated protein C (APC) resistance is the most common risk factor for venous thromboembolism (VTE). Previous studies mostly analysed patients under 70 years and reported a four-to sevenfold increased risk. This case-control study included consecutive patients referred for a clinical suspicion VTE to our medical unit: 621 patients with a well-documented diagnosis (cases) and 406 patients for which the diagnosis was ruled out and who had no personal history of VTE (controls). APC resistance related to factor V Leiden was defined by either a positive DNA analysis or a positive STA® Staclot APC-R assay. Under 70 years, APC resistance was associated with a threefold increased risk of VTE (odds ratio 3.2, 95% CI, 1.7 to 6.0), whereas in patients over 70 years, it appeared to be no longer a strong risk factor (odds ratio 0.8, 95% CI, 0.4 to 1.7). Age appeared as an effectmeasure modifier with a significant interaction (p = 0.005). Our data suggest that APC resistance is not a risk factor for VTE in elderly.

scholarly journals Association of smoking and cancer with the risk of venous thromboembolism: the Scandinavian Thrombosis and Cancer cohort

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Benedikte Paulsen ◽  
Olga V. Gran ◽  
Marianne T. Severinsen ◽  
Jens Hammerstrøm ◽  
Søren R. Kristensen ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Cancer Patients ◽  
Smoking Status ◽  
Large Population ◽  
Population Based ◽  
Cancer Site ◽  
Established Risk Factor ◽  
Increased Risk ◽  
Active Cancer

AbstractSmoking is a well-established risk factor for cancer, and cancer patients have a high risk of venous thromboembolism (VTE). Conflicting results have been reported on the association between smoking and risk of VTE, and the effect of smoking on VTE-risk in subjects with cancer is scarcely studied. We aimed to investigate the association between smoking and VTE in subjects with and without cancer in a large population-based cohort. The Scandinavian Thrombosis and Cancer (STAC) cohort included 144,952 participants followed from 1993–1997 to 2008–2012. Information on smoking habits was derived from self-administered questionnaires. Active cancer was defined as the first two years following the date of cancer diagnosis. Former smokers (n = 35,890) and those with missing information on smoking status (n = 3680) at baseline were excluded. During a mean follow up of 11 years, 10,181 participants were diagnosed with cancer, and 1611 developed incident VTE, of which 214 were cancer-related. Smoking was associated with a 50% increased risk of VTE (HR 1.49, 95% CI 1.12–1.98) in cancer patients, whereas no association was found in cancer-free subjects (HR 1.07, 95% CI 0.96–1.20). In cancer patients, the risk of VTE among smokers remained unchanged after adjustment for cancer site and metastasis. Stratified analyses showed that smoking was a risk factor for VTE among those with smoking-related and advanced cancers. In conclusion, smoking was associated with increased VTE risk in subjects with active cancer, but not in those without cancer. Our findings imply a biological interaction between cancer and smoking on the risk of VTE.

scholarly journals Association of hypertriglyceridemic waist phenotype with renal function impairment: a cross-sectional study in a population of Chinese adults

2020 ◽  
Author(s):  
Yun Qiu ◽  
Qi Zhao ◽  
Yian Gu ◽  
Na Wang ◽  
Yuting Yu ◽  
...  
Keyword(s):  
Renal Function ◽  
Risk Factor ◽  
Population Based ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Chinese Adults ◽  
Cross Sectional ◽  
Logistic Regression Models ◽  
Hypertriglyceridemic Waist ◽  
Increased Risk

Abstract Background: The hypertriglyceridemic waist (HTGW) phenotype has been suggested as a risk factor for chronic kidney disease (CKD), but evidence on relationship of triglyceride waist phenotypes with estimated glomerular filtration rate (eGFR) status and severity is limited. Our aim was to explore the association of triglyceride waist phenotypes with reduced eGFR and various decreased eGFR stages among Chinese adults.Methods: A population-based, cross-sectional study was conducted among Chinese participants aged 20-74 years during June 2016 to December 2017 in Shanghai, China. An eGFR value below 60 mL/min/1.73 m2 was defined as Decreased eGFR. The HTGW phenotype was defined as a triglycerides (TG) level ≥1.7 mmol/L and a waist circumference (WC) ≥90 cm for men and ≥80 cm for women. We examined the association of triglyceride waist phenotypes with decreased eGFR risk using the weighted logistic regression models.Results: A total of 31,296 adults were included in this study. Compared with normal TG level/normal WC (NTNW) phenotype, normal TG level/enlarged WC (NTGW), elevated TG level/normal WC (HTNW), elevated TG level/enlarged WC (HTGW) were associated with the increased risk of decreased eGFR, with an multivariable-adjusted ORs (95% CI) of 1.77 (1.42-2.20), 1.48 (1.16-1.90), and 2.30 (1.80-2.93), respectively. These positive associations between triglyceride waist phenotypes and decreased eGFR risk remained across almost all the subgroups, including sex, age, BMI, T2DM, and hypertension. NTGW, HTNW, and HTGW phenotype were consistently positively associated with the risk of mildly and moderately decreased eGFR, but not with severely decreased eGFR risk.Conclusions: HTGW was consistently associated with the increased risk of decreased eGFR and various decreased eGFR stages except for severely decreased eGFR. The findings imply that HTGW may be an important risk factor for renal dysfunction or an indicator for prevention and control aiming to reduce renal function decline.

Risk of venous thromboembolism in ankylosing spondylitis: a general population-based study

2019 ◽  
Vol 78 (4) ◽  
pp. 480-485 ◽  
Author(s):  
Juan Antonio Aviña-Zubieta ◽  
Jonathan Chan ◽  
Mary De Vera ◽  
Eric C Sayre ◽  
Hyon Choi ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Ankylosing Spondylitis ◽  
General Population ◽  
Population Based ◽  
Incidence Rates ◽  
First Year ◽  
Healthcare Database ◽  
Cox Models ◽  
Increased Risk ◽  
Incident Cases

BackgroundVenous thromboembolism (VTE), including pulmonary embolism (PE) and deep venous thrombosis (DVT), can be life threatening. An increased frequency of VTE has been found in inflammatory conditions. To date, evidence assessing whether this risk is also greater in patients with ankylosing spondylitis (AS) is scarce.MethodsUsing the provincial British Columbia, Canada healthcare database that encompasses all residents within the province, we conducted matched cohort analyses of incident PE, DVT and overall VTE among incident cases of AS and compared them with individuals randomly selected from the general population without AS. We calculated incidence rates (IRs) of VTE and multivariable analyses after adjusting for traditional risk factors using Cox models.ResultsAmong 7190 incident cases of AS, 35 developed PE and 47 developed DVT. IRs of PE, DVT and overall VTE per 1000 person-years for patients with AS were 0.79, 1.06, 1.56 compared with 0.40, 0.50, 0.77 in the control cohort. Corresponding fully adjusted HRs (95% CI) of PE, DVT and VTE were 1.36 (0.92 to 1.99), 1.62 (1.16 to 2.26) and 1.53 (1.16 to 2.01), respectively. The risks of PE, DVT and VTE were highest in the first year of diagnosis with HR (95% CI) of 2.88 (0.87 to 9.62), 2.20 (0.80 to 6.03) and 2.10 (0.88 to 4.99), respectively.ConclusionsThese findings demonstrate an increased risk of VTE in the general AS population. This risk appears the most prominent in the first year after diagnosis.

Is Rheumatoid Arthritis a Risk Factor for Fractures: A Systematic Review of Observational Studies

2020 ◽  
Vol 16 (1) ◽  
pp. 29-37
Author(s):  
Ambika Gupta ◽  
Stephanie G. Pipe ◽  
Tanveer Towheed ◽  
Tassos Anastassiades
Keyword(s):  
Risk Factor ◽  
General Population ◽  
Disease Severity ◽  
Functional Impairment ◽  
Primary Objective ◽  
Control Group ◽  
Cross Sectional ◽  
Risk Of Fracture ◽  
Increased Risk ◽  
Study Heterogeneity

Aim: The primary objective was to assess the risk of fractures in adults with RA compared with controls from the general population. The review also assessed an increased risk of fractures in RA patients when accounting for steroid use, RA disease severity or functional impairment. Method: Citations were screened from MEDLINE, EMBASE, Cochrane Database of Systematic Reviews and CINAHL. Included citations were written in English, including adult patients at least 18 years of age and compared fracture incidence or prevalence between RA patients and a control group. Case-control, cohort and cross-sectional studies were included. Results: There were a total of 3451 citations; after application of the inclusion criteria, 17 studies were selected. In 14 of the 17 studies, there was an increase in the risk of fracture in RA patients compared to controls. In studies that evaluated for glucocorticoid use, four of 13 demonstrated an increased risk of fracture with glucocorticoid use, however, only two of these four studies specifically assessed glucocorticoid use amongst patients with RA. In studies that analyzed RA severity or functional impairment, two of seven demonstrated disease severity or impairment as a risk factor for fracture. There was marked study heterogeneity in terms of patient and fracture characteristics, which was a limitation of the analysis that impeded the ability to make direct comparisons. Conclusion: The risk of fracture in RA patients is elevated when compared to the general population, although the etiology of the increased risk remains to be elucidated.

scholarly journals Childhood cognitive function and adult psychopathology: associations with psychotic and non-psychotic symptoms in the general population

2012 ◽  
Vol 201 (2) ◽  
pp. 124-130 ◽  
Author(s):  
Jennifer H. Barnett ◽  
Fiona McDougall ◽  
Man K. Xu ◽  
Tim J. Croudace ◽  
Marcus Richards ◽  
...  
Keyword(s):  
Risk Factor ◽  
General Population ◽  
Cognitive Ability ◽  
General Health Questionnaire ◽  
Psychiatric Morbidity ◽  
Phenotypic Expression ◽  
Population Based ◽  
Cognitive Test ◽  
Psychotic Symptoms ◽  
Increased Risk

BackgroundLower cognitive ability in childhood is associated with increased risk of future schizophrenia, but its relationship with adult psychotic-like experiences and other psychopathology is less understood.AimsTo investigate whether this childhood risk factor is shared with adult subclinical psychiatric phenotypes including psychotic-like experiences and general psychiatric morbidity.MethodA population-based sample of participants born in Great Britain during 1 week in March 1946 was contacted up to 20 times between ages 6 weeks and 53 years. Cognition was assessed at ages 8, 11 and 15 years using a composite of age-appropriate verbal and non-verbal cognitive tests. At age 53 years, psychotic-like experiences were self-reported by 2918 participants using four items from the Psychosis Screening Questionnaire and general psychiatric morbidity was assessed using the scaled version of the General Health Questionnaire (GHQ-28).ResultsPsychotic-like experiences were reported by 22% of participants, and were highly comorbid with other psychopathology. Their presence in adults was significantly associated with poorer childhood cognitive test scores at ages 8 and 15 years, and marginally so at age 11 years. In contrast, high GHQ scores were not associated with poorer childhood cognition after adjustment for the presence of psychotic-like experiences.ConclusionsPsychotic and non-psychotic psychopathologic symptoms are highly comorbid in the general population. Lower childhood cognitive ability is a risk factor for psychotic-like experiences in mid-life; these phenomena may be one end of a continuum of phenotypic expression driven by variation in early neurodevelopment.

scholarly journals Waist circumference as a determinant of hypertension and diabetes in Brazilian women: a population-based study

2004 ◽  
Vol 7 (5) ◽  
pp. 629-635 ◽  
Author(s):  
MTA Olinto ◽  
LC Nacul ◽  
DP Gigante ◽  
JSD Costa ◽  
AMB Menezes ◽  
...  
Keyword(s):  
Waist Circumference ◽  
Odds Ratio ◽  
Age Groups ◽  
Population Based ◽  
Cross Sectional Study ◽  
Central Adiposity ◽  
Cross Sectional ◽  
Younger Women ◽  
Increased Risk

AbstractObjective:To evaluate the role of central adiposity, as evaluated by the measurement of waist circumference (WC), as an independent risk factor for hypertension and type 2 diabetes mellitus in the setting of a developing country.Design:Population-based, cross-sectional study.Setting:A medium-sized town in southern Brazil.Participants:One thousand and ninety-five non-pregnant women, 20 to 69 years old, recruited by cluster random sampling between 1999 and 2000. Their mean WC was 85.3 cm (standard deviation 13.9 cm) and 23.3% (n = 255) were obese (body mass index >30 kg m−2). The prevalence of hypertension and diabetes was 25.6% (n = 280) and 6.2% (n = 68), respectively.Results:The risks of hypertension and diabetes were directly related to WC measurement. Women with WC > 80 cm had increased risk of hypertension (odds ratio (OR) = 6.2, P < 0.001). The association remained significant (OR = 1.04 per cm increase in WC, P = 0.02) after adjusting for confounders. The effect of WC on diabetes was modified by age. The effect was stronger in women younger than 40 years old (OR = 12.7, P = 0.016) than in those over 40 years old (OR = 2.8, P = 0.013). In the multivariate analysis, the odds ratio was 5.7 (P = 0.12) in those under 40 years old and 2.8 (P = 0.008) in older women.Conclusions:Waist circumference is an independent determinant for hypertension and diabetes in women in this population. The stronger association between WC and diabetes in younger women suggests that the validity of this indicator to assess abdominal adiposity is age-specific. Further studies should validate the usefulness of WC measurement in different age groups.

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