Factor V Leiden distribution – could it shed some light on the pre-history of Europe and the Near East?

Abstract

Polymorphism of clotting factor V, comprising Arg506Gln substitution in the factor V molecule, commonly known as Factor V Leiden, represents the most common heritable risk factor for thrombotic events in Indo-Europeans and some Semitic nations. Although it is suggested that this mutation is associated with a survival advantage that has facilitated the spread of this polymorphism in the human population, in this paper we argue against such a Darwinian evolutionary mechanism responsible for the high prevalence of FV Leiden in some countries. Instead, we propose that cultural, climatic, and geographic factors played a role. Taking into account the current distribution of FV Leiden polymorphism and the results of recent assessments of prehistoric human DNA, we suggest that actually the origin of FV Leiden mutation did not occur in the Near East, as is widely believed, but rather in a small isolated population of so-called Basal Eurasians, probably in northern Africa. This founder group probably migrated to the Near East during the Younger Dryas, a geological period associated with climate cooling. Here, they mixed with local people; still Factor V Leiden mutation remained very prevalent in this population. The invention of agriculture, which took place approximately 2,000 years later, gave the descendants of Basal Eurasians an enormous advantage over hunter-gatherers, and probably enabled a successful spread of FV Leiden polymorphism to Europe, Central Asia, and towards the Indian subcontinent.

A combination of strongly associated prothrombotic single nucleotide polymorphisms could efficiently predict venous thrombosis risk

“…The Leiden mutation/ F5 prevalence is unevenly distributed across Europe with an average prevalence of 4% in the general population. The highest frequency is reported in Southeastern Europe and Northern Europe, whereas the lowest frequency is reported in Eastern and Western Europe ( 37 , 38 ). The Leiden mutation prevalence is highest in European descent populations (3%–8%) ( 34 , 39 ), followed by Caucasian Americans (5%).…”

Concerns about Blood Clots in Sports Medicine

“…Factor V Leiden, for example, which may have been a “founder event” mutation 20,000 or more years ago, is as common in Denmark (nearly 8%) as is SCT among African Americans (4). Both conditions are fairly common (so far) because SCT guards against malarial death and Factor V Leiden may guard against bleeding death from trauma or childbirth (5). It may be wise to screen certain ice hockey players with suspected or incipient DVT for inherited thrombophilias.…”

Distribution and origin of Factor V Leiden: revisited with new approach and suppositions

“…In this edition of "Phlebological Review" there is an interesting review article discussing the distribution of Factor V Leiden (FVL) mutation and arguing the origin of this mutation [1]. To briefly remind the reader, FVL is a missense point mutation (G1691A) in the clotting factor V (FV) gene, leading to an amino acid change in the FV molecule (Arg506Gn).…”

“…In the article by Simka and Latacz [1], the authors propose a new interesting hypothesis on the origin of FVL. The authors present their opinion based on current available data, including molecular studies on current human samples and on archeological human remnants, geographic distribution of FVL in the Near East and Europe (including isolated ethnic groups), and anthropological and linguistics materials.…”