Increased Resistance to Malaria in Mice with Methylenetetrahydrofolate Reductase (Mthfr) Deficiency Suggests a Mechanism for Selection of the MTHFR 677C>T (c.665C>T) Variant. Issue 5 (31st March 2014)

• Record Type: Journal Article
• Authors: Meadows, Danielle N.; Pyzik, Michal; Wu, Qing; Torre, Sabrina; Gros, Philippe; Vidal, Silvia M.; Rozen, Rima
• Is Part Of: Human mutation. Volume 35:Issue 5(2014:May)
• Page Start: 594
• Page End: 600
• Publication Date: 2014-03-31
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22533
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22533-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The map shows worldwide frequencies for homozygosity of the <italic>MTHFR</italic> 677C&gt;T (c.665C&gt;T) polymorphism, which is associated with enzymatic deficiency and increased risk for several complex traits. We explored the possibility of a selective advantage for this polymorphism by infecting <italic>Mthfr</italic>‐deficient and <italic>MTHFR</italic>‐overexpressing mice with <italic>P</italic>. <italic>berghei</italic> ANKA (cerebral malaria). We identified increased and decreased resistance, respectively, for these mice and suggest that this polymorphism may have reached high frequencies in malaria‐endemic regions through positive selection. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg5ndpgb3f" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>