TY  - CHAP
M1  - Book, Section
TI  - Association of Variants in the Lipase Genes with Lipid Levels and Coronary Artery Disease
A1  - Deeb, Samir S.
A1  - Brunzell, John D.
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
Y1  - 2019
N1  - 10.1036/ommbid.146
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Newly  identified  loci  that  influence  plasma  lipid  concentrations  include  markers  in  and  around  the  genes  encoding  lipoprotein  lipase  (LIPD),  hepatic  lipase  (LIPC),  and  endothelial  lipase  (LIPG).  These  studies  involved  genome-wide  scans  of  associations  with  low-density  lipoprotein  cholesterol  (LDLC),  high-density  lipoprotein  cholesterol  (HDLC),  and  triglyceride  levels  in  population  samples  totaling  more  than  20,000  individuals.1,2  Highly  significant  associations  with  HDLC  were  observed,  with  markers  at  11  loci  related  to  lipid  metabolism.  These  polymorphisms  were  tested  subsequently  for  association  with  the  risk  for  coronary  artery  disease  (CAD).  In  summary,  markers  at  the  CETP,  LIPD,  LIPC,  and  LIPG,  LCAT,  GALNT2,  and  ABCA1  loci  were  observed  to  be  associated  with  HDLC  levels.  The  impact  of  these  common  polymorphisms  on  HDLC  levels  ranged  from  approximately  1–4  mg/dl  per  allele.  Markers  at  or  near  the  LDLR,  APOB,  NCAN,  SORT1,  and  APOE  loci  were  associated  with  LDLC  levels.  The  impact  of  these  common  polymorphisms  on  LDLC  levels  ranged  from  approximately  2–9  mg/dl  per  allele.  Markers  at  or  near  the  LPL,  LIPD,  APOA1-APOC3-APOA4-APOA5,  NCAN,  GCKR,  ANGPTL3,  TRIB1,  CILP2,  and  GALNT2  loci  were  associated  with  triglyceride  levels.  The  impact  of  these  common  polymorphisms  on  triglyceride  levels  ranged  from  approximately  1–26  mg/dl  per  allele.  Multiple  regression  models  indicated  that  only  about  5–8  percent  of  the  variation  in  the  preceding  three  lipid  parameters  was  accounted  for  by  the  associated  alleles.  Therefore,  much  of  the  heritability  of  these  traits  remains  unknown.  Uncommon  alleles  with  relatively  high  impact  and  more  common  alleles  with  very  low  impact  may  be  other  contributing  gene  variants.  Epigenetic  variation  also  may  have  an  impact  on  common  variations  in  phenotype.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
M3  - doi: 10.1036/ommbid.146
Y2  - 2024/04/16
UR  - ommbid.mhmedical.com/content.aspx?aid=1181449616
ER  -