publication . Article . Other literature type . 2006

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

Alexander Pertsemlidis;
Open Access
  • Published: 31 Jan 2006 Journal: Proceedings of the National Academy of Sciences, volume 103, pages 1,810-1,815 (issn: 0027-8424, eissn: 1091-6490, Copyright policy)
  • Publisher: Proceedings of the National Academy of Sciences
Abstract
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 influence quantitative traits, such as plasma lipoprotein levels. Here, we use the NS variant technique to demonstrate that genetic variation in NPC1L1 contributes to variability in cholesterol absorption and plasma levels of low-density lipoproteins (LDLs). The ratio of plasma campesterol (a plant sterol) to lathosterol (a cholesterol precursor) was used to estimate re...
Subjects
Medical Subject Headings: lipids (amino acids, peptides, and proteins)
free text keywords: Multidisciplinary, Biological Sciences
Abstract
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 influence quantitative traits, such as plasma lipoprotein levels. Here, we use the NS variant technique to demonstrate that genetic variation in NPC1L1 contributes to variability in cholesterol absorption and plasma levels of low-density lipoproteins (LDLs). The ratio of plasma campesterol (a plant sterol) to lathosterol (a cholesterol precursor) was used to estimate re...
Subjects
Medical Subject Headings: lipids (amino acids, peptides, and proteins)
free text keywords: Multidisciplinary, Biological Sciences
Powered by OpenAIRE Research Graph
Any information missing or wrong?Report an Issue