ABSTRACT
INTRODUCTION: Cerebral veno-sinus thrombosis (CVT) occurring during puerperium is a common form of stroke in young women in India, associated with high mortality and morbidity. Genetic polymorphisms involving coagulation factors are considered to be risk factors for thrombosis. A recently identified polymorphism in factor V gene, A4070G (R2 allele), has been reported as a risk factor for venous thrombosis in some studies. Moreover, the R2 allele has been reported to increase factor V Leiden-related thrombosis risk in doubly heterozygous individuals. The risk associated with the R2 allele has not yet been evaluated in CVT. Our aim was to determine the prevalence of factor V A4070G mutation in Indians and examine its role as a possible risk factor for CVT occurring during puerperium. MATERIALS AND METHODS: We investigated 50 patients with puerperal CVT and 100 healthy women with no post-partum complications for factor V A4070G and G1691A (factor V Leiden) polymorphisms using polymerase chain reaction and restriction fragment length polymorphism. RESULTS AND CONCLUSION: Among cases, 6 (12%) were heterozygous for the factor V A4070G mutation and none were homozygous. In the control group, 9 (9%) were heterozygous and 3 (3%) were homozygous. The odds ratio was 1.00 (95% CI: 0.31-3.13, p=1.000), suggesting that the risk for CVT was not increased in the presence of the R2 allele. There was no co-inheritance of factor V A4070G with factor V G1691A in any of the subjects. Our study shows that the A4070G mutation in factor V though highly prevalent in the Indian population is not associated with an increased risk of CVT occurring during puerperium in Indian women.
Subject(s)
Factor V/genetics , Mutation , Puerperal Disorders/genetics , Sinus Thrombosis, Intracranial/genetics , Alleles , Case-Control Studies , Female , Heterozygote , Homozygote , Humans , Polymorphism, Restriction Fragment Length , Postpartum Period , Pregnancy , Puerperal Disorders/diagnosis , Risk FactorsABSTRACT
Puerperal cerebral veno-sinus thrombosis (PCVT) is a common form of stroke in young women in India, which is associated with high morbidity and mortality. The frequency of PCVT in India is 10 to 12 times more compared to western population. As yet, the etiology of this condition is unclear. Our aim was to study the prevalence and the role of the common genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T, in aseptic PCVT. We investigated 86 women with PCVT and 86 age-matched women with no post-partum complications. Polymerase chain reaction (PCR)/restriction fragment length polymorphism analysis was used to identify their genotypes. The frequency of the three polymorphisms in cases and controls were: factor V Leiden, 2.3% versus 1.2% (OR 0.49, 95% CI=0.02-7.12, p=1.000) and MTHFR C677T, 16.3% versus 17.4% (OR 0.92, 95% CI=0.39-2.19, p=0.838). The prothrombin G20210A variant was not detected in either patients or controls. The clinical characteristics of the PCVT patients with the polymorphisms did not differ significantly from those without them. In our series of PCVT patients, the risk associated with the established thrombophilic risk factors is insignificant. Exploration of these gene polymorphisms seems to be of limited value in the investigation of PCVT in south Indian women.
