Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption

Abstract

Background: The -13910C>T polymorphism has been associated with lactase persistence

Lactase persistence and milk consumption in Europe: an interdisciplinary approach involving genetics and archaeology

“…Also in Europe, a similar cline with frequencies increasing from south to north can be observed. In the northern part of the continent almost all the sampled individuals are lactase persistent, with frequencies ranging between 96% and 83% in Finland, Denmark, Ireland and the United Kingdom; in the Mediterranean area, the opposite trend can be observed (Itan et al 2010;Manco et al 2013).…”

“…The first mutation found to be linked to this trait is a cytosine to thymine transition 13 910 nucleotides upstream of the transcription initiation site of the lactase gene (-13910 C/T) (Enattah et al 2002). The derived variant at this locus (-13910*T) is associated with lactase persistence throughout Europe (Anagnostou et al 2009;Ingram et al 2009a;Itan et al 2010;Manco et al 2013;Nagy et al 2009;Sun et al 2007;Torniainen et al 2009), Central Asia (Heyer et al 2011) andIndia (Gallego Romero et al 2012).…”