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Journal of Applied Genetics 51(3), 2010, pp. 337-341

An age-related decrease in factor V Leiden frequency among Polish subjects

G. Adler, M. Parczewski, E. Czerska, B. Loniewska, M. Kaczmarczyk, J. Gumprecht, W. Grzeszczak, A. Szybinska, M. Mossakowska, A. Ciechanowicz


Abstract: Factor V Leiden (G1691A FV mutation) is a widely acknowledged risk factor of deep vein thrombosis, including pulmonary embolism as the most serious complication. However, its high prevalence of ~5% in the Caucasian population might be related to an unknown evolutionary advantage. It might exert a beneficial effect on the carrier, e.g. protecting women from excessive bleeding during labour or allowing increased survival in severe sepsis or with other inflammatory diseases. The aim of our study was to verify or contradict the hypothesis of a favourable association between the A allele (A1691) and longevity in the Polish population. For this purpose, the G1691A mutation was analyzed by PCR-RFLP in 1016 Poles: 400 neonates (187 female and 312 male), 184 healthy adults (129 female and 55 male), and 432 long-lived individuals (age ≥95 years: 343 women and 89 men). Frequencies of G1691A carriers and the A1691 allele in long-lived individuals (0.2% and 0.1%, respectively) were significantly lower than in neonates (4.2% and 2.2%, respectively) and adults (3.3% and 1.6%). The frequency of the G1691A factor V Leiden mutation decreased with age, which indicates a shorter survival time among A1691 allele carriers in the Polish population.

Key words: G1691A, FV mutation, long-lived individuals, newborns

Correspondence: G. Adler, Department of Laboratory Diagnostics & Molecular Medicine, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland; e-mail: gra2@op.pl

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