An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations

Medical Hypotheses
Miguel A Alfonso-SánchezJosé A Peña

Abstract

The diffusion of the cattle pastoralism across Europe during the Neolithic period was probably accompanied by the emergence and spread of diverse contagious diseases that were unknown in the Paleolithic and that would have affected the frequency of genes directly or indirectly associated with differential susceptibility and/or resistance to infectious pathogens. We therefore propose that the high frequency of the CFTR gene, and in particular, the common Delta F508 allele mutation in current European and European-derived populations might be a consequence of the impact of selective pressures generated by the transmission of pathogenic agents from domesticated animals, mainly bovine cattle, to the man. Intestinal infectious diseases were probably a major health problem for Neolithic peoples. In such a context, a gene mutation that conferred an increased resistance to the diseases caused by pathogens transmitted by dairy cattle would have constituted a definite selective advantage, particularly in those human groups where cow's milk became an essential component of the diet. This selective advantage would be determined by an increased resistance to Cl(-)-secreting diarrheas of those individuals carrying a single copy of the Delta ...Continue Reading

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Citations

Nov 15, 2011·Orphanet Journal of Rare Diseases·Cameron M BeechStephan M Tanner
Nov 21, 2012·Pediatrics·Jennifer A WambachAaron Hamvas
Jun 21, 2014·Revista clínica española·M LerínR Alvarez-Sala
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Jan 27, 2018·Journal of the American Society of Nephrology : JASN·Matias Simons

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