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A more recent version of this article appeared on December 1, 2004 Originally published In Press as doi:10.1194/jlr.R400008-JLR200 on September 17, 2004

Papers In Press, published online ahead of print September 16, 2004
J. Lipid Res., doi:10.1194/jlr.R400008-JLR200
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Submitted on July 26, 2004
Revised on August 26, 2004
Accepted on September 10, 2004

What have we learned from genomewide scans on lipid-related phenotypes so far? Fixing perspective with a new genomewide search on apolipoprotein levels in the Quomicron bec family study

Yohan Bossé, Yvon C. Chagnon, Jean-Pierre Després, Treva Rice, D. C. Rao, Claude Bouchard, Louis Pérusse, and Marie-Claude Vohl

Lipid Research Center, Laval University, Sainte-Foy, Québec G1V 4G2

Corresponding Author: yohan.bosse{at}crchul.ulaval.ca

The genetic dissection of complex inherited diseases is a major challenge. Although the success rate is highly limited in finding potentially relevant genes, a large body of data based on genomewide scan strategies is now available for a variety of diseases and related phenotypes. This can perhaps be best appreciated in the field of lipid and lipoprotein levels. The amount of information generated from genomewide scans on lipid-related phenotypes may soon overwhelm even the most dedicated investigators. We have created a database containing the results from whole-genome scans undertaken to date. This synthesis may be helpful to investigators in positioning new findings without having to digest a large body of scientific papers. The usefulness of this database is then demonstrated by performing a new autosomal genomic scan on apolipoprotein (apo) B, LDL-apo B and apo AI levels, measured in 679 subjects of 243 nuclear families. Linkage was tested using both allele sharing and variance component methods. Only two loci provided support for linkage with both methods, including a LDL-apo B locus on 18q21.32 and an apo AI locus on 3p25.2. Adding those findings to the database highlighted the fact that the former is a first time reported lipid-related locus, whereas the later has been observed before. However, displaying all data on the same map revealed that a large portion of the genome is now covered with loci supported by at least suggestive evidence of linkage.


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