Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

An approach to understand quantitative traits was recently proposed based on the finding that nonsynonymous (NS) sequence variants in certain genes are preferentially enriched at one extreme of the population distribution. The NS variants, although individually rare, are cumulatively frequent and in...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2006-02, Vol.103 (6), p.1810-1815
Hauptverfasser:	Cohen, J.C, Pertsemlidis, A, Fahmi, S, Esmail, S, Vega, G.L, Grundy, S.M, Hobbs, H.H
Format:	Artikel
Sprache:	eng
Schlagworte:	Absorption Adult African Americans Alleles Americans animal proteins Biological Sciences Blacks blood lipids campesterol Cholesterol Cholesterols Disease models Ethnic Groups - genetics Female Genes genetic variation Genetic Variation - genetics Genetics Haplotypes Human genetics Humans intestinal absorption lathosterol Lipoproteins, LDL - blood Low density lipoprotein Male Medical genetics Membrane Proteins - genetics Membrane Proteins - metabolism Men Middle Aged mutation Niemann-Pick Type C1 Like 1 protein nonsynonymous sequence variants NPC1L1 gene Plasma Population genetics Proteins - genetics Proteins - metabolism single nucleotide polymorphism single nucleotide variants Sorption sterols Sterols - metabolism Sterols - pharmacokinetics Texas White people
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