A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis

Blood ◽  
1996 ◽  
Vol 88 (10) ◽  
pp. 3698-3703 ◽  
Author(s):  
SR Poort ◽  
FR Rosendaal ◽  
PH Reitsma ◽  
RM Bertina
Keyword(s):  
Confidence Interval ◽  
Venous Thrombosis ◽  
Case Control Study ◽  
Direct Sequencing ◽  
Population Based ◽  
Coding Regions ◽  
History Of ◽  
Prothrombin Gene ◽  
Polymerase Chain ◽  
Control Study

We have examined the prothrombin gene as a candidate gene for venous thrombosis in selected patients with a documented familial history of venous thrombophilia. All the exons and the 5′- and 3′-UT region of the prothrombin gene were analyzed by polymerase chain reaction and direct sequencing in 28 probands. Except for known polymorphic sites, no deviations were found in the coding regions and the 5′-UT region. Only one nucleotide change (a G to A transition) at position 20210 was identified in the sequence of the 3′-UT region. Eighteen percent of the patients had the 20210 AG genotype, as compared with 1% of a group of healthy controls (100 subjects). In a population-based case-control study, the 20210 A allele was identified as a common allele (allele frequency, 1.2%; 95% confidence interval, 0.5% to 1.8%), which increased the risk of venous thrombosis almost threefold odds ratio, 2.8; 95% confidence interval, 1.4 to 5.6. The risk of thrombosis increased for all ages and both sexes. An association was found between the presence of the 20210 A allele and elevated prothrombin levels. Most individuals (87%) with the 20210 A allele are in the highest quartile of plasma prothrombin levels (> 1.15 U/mL). Elevated prothrombin itself also was found to be a risk factor for venous thrombosis.

Immune-response against Streptococcus pyogenes in the development of abdominal aortic aneurysm – A population-based case-control study

VASA ◽  
2008 ◽  
Vol 37 (2) ◽  
pp. 143-149 ◽  
Author(s):  
Wanhainen ◽  
Rasmussen ◽  
Björck ◽  
Björck
Keyword(s):  
Immune Response ◽  
Abdominal Aortic Aneurysm ◽  
Streptococcus Pyogenes ◽  
Case Control Study ◽  
Population Based ◽  
Case Control ◽  
Abdominal Aortic ◽  
History Of ◽  
Antibody Levels ◽  
Control Study

Background: In a population-based case-control study the association between antibodies to Streptococcus pyogenes antigens and the development of abdominal aortic aneurysm (AAA) was analysed. Patients and methods: Forty-two patients with screening-detected AAA were compared to 100 age- and sex matched controls with normal aortas. Antibodies against three recently characterized cell wall-attached proteins of S. pyogenes (SclA, SclB and GRAB) were analysed in plasma samples obtained at screening (current), and in samples obtained from a study conducted 12 years previously on the same population (historical). Results: Historical antibody levels against the S. pyogenes antigen GRAB were significantly higher in AAA patients compared with controls (0.25 vs 0.17, p = 0.021). A similar trend was observed in current GRAB antibody levels (0.23 vs 0.17, p = 0.072). GRAB-antibody levels at age 60 years retained the association with AAA in a logistic regression model after adjustment for a history of atherosclerosis (OR 20.2, p = 0.022), current smoking (OR 21.4, p = 0.025) and family history of AAA (OR 12.9, p = 0.053). Current and historical antibody levels against SclA and SclB in AAA patients were similar to those in controls. Conclusions: The results indicate that the immune response against S. pyogenes protein GRAB may be involved in the pathogenesis of AAA.

scholarly journals Frequency of HLA-DRB1 Gene Alleles in Patients With Multiple Sclerosis in a Lithuanian Population

Medicina ◽  
2012 ◽  
Vol 48 (1) ◽  
pp. 2
Author(s):  
Renata Balnytė ◽  
Daiva Rastenytė ◽  
Dalia Mickevičienė ◽  
Antanas Vaitkus ◽  
Erika Skrodenienė ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Case Control Study ◽  
Case Control ◽  
Chain Reaction ◽  
Female Patients ◽  
History Of ◽  
Male Patients ◽  
Polymerase Chain ◽  
The Relationship ◽  
Control Study

The aim of the present study was to investigate the influence of HLA-DRB1 alleles on the genetic susceptibility to multiple sclerosis in the Lithuanian population. Material and Methods. A total of 120 patients with multiple sclerosis and 120 unrelated healthy controls were enrolled in this case-control study. Allelic frequencies were compared between the groups. HLA-DRB1 alleles were genotyped using the polymerase chain reaction. Results. HLA-DRB1*15 was present in 55.8% of the patients with multiple sclerosis and 10.0% of the controls (OR, 5.58; 95% CI, 3.19–9.77; P<0.0001). The protective alleles that were found to be more prevalent among the controls compared with the patients with multiple sclerosis were HLADRB1* 01 (26.7% vs. 7.5%, P<0.0001), *03 (17.5% vs. 8.3%, P=0.034), and *16 (11.7% vs. 3.3%, P=0.014). HLA-DRB1*15 was more common among the female patients with multiple sclerosis than among the male patients (68.4% vs. 34.1%; OR, 4.18; 95%, CI 1.90–9.22; P=0.001). The heterozygous inheritance of HLA-DRB1*15 allele was more common in the patients with a history of maternal multiple sclerosis than in those with a history of paternal multiple sclerosis (29.4% vs. 9.8%; P=0.045). Conclusions. HLA-DRB1*15 was found to be associated with multiple sclerosis in the Lithuanian population. This allele was more prevalent among the female patients with multiple sclerosis. Maternal multiple sclerosis was more common than paternal multiple sclerosis, but the relationship with HLA-DRB1*15 allele was not established. HLA-DRB1*01, *03, and *16 appeared to be the protective alleles in this series.

A case-control study of risk factors of chronic venous ulceration in patients with varicose veins

2017 ◽  
Vol 33 (1) ◽  
pp. 60-67 ◽  
Author(s):  
Gohar Abelyan ◽  
Lusine Abrahamyan ◽  
Gayane Yenokyan
Keyword(s):  
Risk Factors ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Case Control Study ◽  
Varicose Veins ◽  
Case Control ◽  
Sitting Time ◽  
Venous Ulceration ◽  
History Of ◽  
Control Study

Background/objectives Venous ulcers carry psychological and high financial burden for patients, causing depression, pain, and limitation of mobility. The study aimed to identify factors associated with an increased risk of venous ulceration in patients with varicose veins in Armenia. Methods A case-control study design was utilized enrolling 80 patients in each group, who underwent varicose treatment surgery in two specialized surgical centers in Armenia during 2013–2014 years. Cases were patients with varicose veins and venous leg ulcers. Controls included patients with varicose veins but without venous leg ulcers. Data were collected using interviewer-administered telephone interviews and medical record abstraction. Multiple logistic regression analysis was used to identify the risk factors of venous ulceration. Results There were more females than males in both groups (72.5% of cases and 85.0 % of controls). Cases were on average older than controls (53.9 vs. 39.2 years old, p ≤ 0.001). After adjusting for potential confounders, the estimated odds of developing venous ulcer was higher in patients with history of post thrombotic syndrome (odds ratio = 14.90; 95% confidence interval: 3.95–56.19; p = 0.001), with higher average sitting time (odds ratio = 1.32 per hour of sitting time; 95% confidence interval: 1.08–1.61; p = 0.006), those with reflux in deep veins (odds ratio = 3.58; 95% confidence interval: 1.23–10.31; p = 0.019) and history of leg injury (odds ratio = 3.12; 95% confidence interval: 1.18–8.23; p = 0.022). Regular exercise in form of walking (≥5 days per week) was found to be a protective factor from venous ulceration (odds ratio = 0.26; 95% confidence interval: 0.08–0.90; p = 0.034). Conclusion We found that reflux in deep veins, history of leg injury, history of post thrombotic syndrome, and physical inactivity were significant risk factors for venous ulceration in patients with varicose veins, while regular physical exercise mitigated that risk. Future studies should investigate the relationships between the duration and type of regular exercise and the risk of venous ulceration to make more specific recommendations on preventing ulcer development.

scholarly journals Recurrent deletion in the human antithrombin III gene

Blood ◽  
1991 ◽  
Vol 78 (4) ◽  
pp. 1027-1032
Author(s):  
CB Grundy ◽  
F Thomas ◽  
DS Millar ◽  
M Krawczak ◽  
E Melissari ◽  
...  
Keyword(s):  
Antithrombin Iii ◽  
Direct Sequencing ◽  
Consensus Sequence ◽  
Type I ◽  
Coding Regions ◽  
Human Genes ◽  
History Of ◽  
Polymerase Chain ◽  
Gene Exon ◽  
Recurrent Deletion

Eight unrelated patients with recurrent thromboembolism, a family history of thrombosis, and plasma antithrombin III (ATIII) activity/antigen levels consistent with a diagnosis of heterozygous type I ATIII deficiency were studied by polymerase chain reaction/direct sequencing of ATIII gene exon-coding regions. Frameshift mutations of one base and two bases, respectively, were found to have occurred in two unrelated patients at the same GAG codon (Glu 245) within exon 4 of the ATIII gene. A literature search showed six further hitherto unrecognized deletion “hotspots” in four other human genes. These deletion-prone sites exhibited sufficient sequence homology with each other to derive a consensus sequence (T G A/G A/G G A/C), suggesting that deletion in human genes may not only be non- random but also sequence-directed.

Do Multivitamin Supplements Attenuate the Risk for Diabetes-Associated Birth Defects?

PEDIATRICS ◽  
2003 ◽  
Vol 111 (Supplement_1) ◽  
pp. 1146-1151
Author(s):  
Adolfo Correa ◽  
Lorenzo Botto ◽  
Yecai Liu ◽  
Joseph Mulinare ◽  
J. David Erickson
Keyword(s):  
Confidence Interval ◽  
Birth Defects ◽  
Odds Ratio ◽  
Case Control Study ◽  
Maternal Diabetes ◽  
Population Based ◽  
Increased Risk ◽  
Periconceptional Period ◽  
Multivitamin Supplements ◽  
Control Study

Objective. To evaluate whether the risk for birth defects associated with maternal diabetes is attenuated by use of multivitamin supplements during the periconceptional period. Methods. In the population-based Atlanta Birth Defects Case-Control Study, we identified case infants who had nonsyndromic birth defects that were reported to be associated with diabetes (n = 3278) and were born during 1968–1980 to residents of metropolitan Atlanta. Controls were infants without birth defects (n = 3029). Maternal diabetes was defined as reported diabetes with onset before the date of birth of the index infant, and periconceptional use of multivitamins was defined as reported regular use of multivitamin supplements from 3 months before pregnancy through the first 3 months of pregnancy. Results. Offspring of mothers with diabetes had an increased risk for selected birth defects. However, the increased risk was limited to offspring of mothers who had diabetes and had not taken multivitamins during the periconceptional period (odds ratio: 3.93; 95% confidence interval: 1.79–8.63). Offspring of mothers who had diabetes and had taken multivitamins during the periconceptional period had no increased risk for birth defects (odds ratio: 0.15; 95% confidence interval: 0.00–1.99). Conclusions. Periconceptional use of multivitamin supplements may reduce the risk for birth defects among offspring of mothers with diabetes.

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