Factor V gene A4070G mutation and the risk of cerebral veno-sinus thrombosis occurring during puerperium.
BACKGROUND
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.


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.


CONCLUSIONS
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.
Dindagur
Nagaraja
N
Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560029, Karnataka, India. dnn@nimhans.kar.nic.in
Kruthika-Vinod
T P
TP
Christopher
Rita
R
D000483:Alleles; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D049590:Postpartum Period; D011247:Pregnancy; D011644:Puerperal Disorders / Q000175:diagnosis / Q000235:genetics*; D012307:Risk Factors; D012851:Sinus Thrombosis, Intracranial / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V