Prevalence of Molecular Risk Factors FV Leiden, FV HR2, FII 20210G>A and MTHFR 677C>T in Different Populations and Ethnic Groups of Germany, Costa Rica and India

Clinical profile, common thrombophilia markers and risk factors in 85 young Indian patients with arterial thrombosis

“…Contrary to the previous belief that factor V Leiden is rare in Indians, 8 some recent studies have reported higher frequency of APC-R in Indian patients with venous thrombosis. [9][10][11] In the present study, APC-R was detected in 14% of the patients and 4% of the controls. In a study by Khare et al, the prevalence of factor V Leiden was significantly higher in MI cases than in controls.…”

Factor V Kuwait alias Factor V R3: A Rare Polymorphism of Uncertain Functional Significance

“…Remarkably, it was not found in the study by Folsom et al [6] , who performed Rsa I restriction analysis of FV exon 13 in 234 African-Americans, suggesting that this allele is very rare or absent in the Black population of the USA. No carriers of the FV H1254R polymorphism were detected in the indigenous populations of Costa Rica (Bribri and Chorotega Indians) [4,5] , in 2 groups of individuals representative of different regions of India [3,5] and in a large sample of Japanese [7] . In Caucasian populations, for which large cohorts of subjects have been genotyped, the FV H1254R allele was either absent (Italians [3] , Germans [4,5] ) or sporadic (Greek Cypriots [3] , issue.…”

“…No carriers of the FV H1254R polymorphism were detected in the indigenous populations of Costa Rica (Bribri and Chorotega Indians) [4,5] , in 2 groups of individuals representative of different regions of India [3,5] and in a large sample of Japanese [7] . In Caucasian populations, for which large cohorts of subjects have been genotyped, the FV H1254R allele was either absent (Italians [3] , Germans [4,5] ) or sporadic (Greek Cypriots [3] , issue. A detailed functional characterisation of the mutant and more solid epidemiological evidence are also needed to firmly establish whether the FV H1254R allele contributes to the risk of venous thrombosis, as suggested by Jadaon et al [1] .…”

“…With the notable exception of Kuwaiti Arabs [1] , the FV H1254R allele appears to be confined to populations of African ancestry, i.e. Somali [3] and Costa Rican Blacks from the Limòn region [4,5] . Remarkably, it was not found in the study by Folsom et al [6] , who performed Rsa I restriction analysis of FV exon 13 in 234 African-Americans, suggesting that this allele is very rare or absent in the Black population of the USA.…”

Common thrombophilia markers in young patients with primary arterial and venous thrombosis

“…5 Factor V resistance was found in only few patients (5/46 positive cases) which is in agreement with the study of wolf et al 6 However, some recent studies have reported a relatively higher frequency of APC-R in Indian population. [7][8][9] In a study by Khare et al, the prevalence of factor V Leiden was significantly higher in MI cases. 10 APC-R in majority of cases is because of a mutation in the factor V gene, labelled factor V Leiden.…”