ArticleHuman genetics2010
Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.Biochemical genetics · 2022Review
- Next-generation gene discovery for variants of large impact on lipid traits.Current opinion in lipidology · 2015Review
- Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.American journal of human genetics · 2013Article
- GIGI: an approach to effective imputation of dense genotypes on large pedigrees.American journal of human genetics · 2013Article
- The role of large pedigrees in an era of high-throughput sequencing.Human genetics · 2012Review
- The genetics of familial combined hyperlipidaemia.Nature reviews. Endocrinology · 2012Review
- Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2011Article
- Linkage and association of phospholipid transfer protein activity to LASS4.Journal of lipid research · 2011Article
- Triglyceride-rich lipoproteins and high-density lipoprotein cholesterol in patients at high risk of cardiovascular disease: evidence and guidance for management.European heart journal · 2011Review
- Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.Human genetics · 2011Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Familial combined hyperlipidemia (FCHL) is a complex trait leading to cardiovascular disease (CVD) risk. Elevated levels and size of apolipoprotein B (apoB) and low-density lipoprotein (LDL) are associated with FCHL, which is genetically heterogeneous and is likely caused by rare variants. We carried out a linkage-based genome scan of four large FCHL pedigrees for apoB level that is independent of LDL: apoB level that is adjusted for LDL level and size. Follow-up included SNP genotyping in the region with the strongest evidence of linkage. Several regions with the evidence of linkage in individual pedigrees support the rare variant model. Evidence of linkage was strongest on chromosome 4q, with multipoint analysis in one pedigree giving LOD = 3.1 with a parametric model, and a log Bayes Factor = 1.5 from a Bayesian oligogenic approach. Of the 293 SNPs spanning the implicated region on 4q, rs6829588 completely explained the evidence of linkage. This SNP accounted for 39% of the apoB phenotypic variance, with heterozygotes for this SNP having a trait value that was approximately 30% higher than that of the high-frequency homozygote, thus identifying and considerably refining a strong candidate region. These results illustrate the advantage of using large pedigrees in the search for rare variants: reduced genetic heterogeneity within single pedigrees coupled with the large number of individuals segregating otherwise-rare single variants leads to high power to implicate such variants.
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