ArticleEuropean journal of human genetics : EJHG2010
Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.Human molecular genetics · 2016Pooled it
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- Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.European journal of human genetics : EJHG · 2019Article
- Genome-wide association study of high-altitude pulmonary edema in a Han Chinese population.Oncotarget · 2017Article
- Gene polymorphisms and gene scores linked to low serum carotenoid status and their associations with metabolic disturbance and depressive symptoms in African-American adults.The British journal of nutrition · 2014Article
- The WWOX gene modulates high-density lipoprotein and lipid metabolism.Circulation. Cardiovascular genetics · 2014Article
- A common copy number variation (CNV) polymorphism in the CNTNAP4 gene: association with aging in females.PloS one · 2013Article
- Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.Circulation. Cardiovascular genetics · 2012Article
- Genetics of cholesterol efflux.Current atherosclerosis reports · 2012Review
- Article
- Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics.Journal of lipid research · 2011Article
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Authors and funding
15 authors at 9 institutions in 2 countries.
Funding
Abstract
Low levels of high-density lipoprotein cholesterol (HDL-C) are an independent risk factor for cardiovascular disease. To identify novel genetic variants that contribute to HDL-C, we performed genome-wide scans and quantitative association studies in two study samples: a Quebec-wide study consisting of 11 multigenerational families and a study of 61 families from the Saguenay-Lac St-Jean (SLSJ) region of Quebec. The heritability of HDL-C in these study samples was 0.73 and 0.49, respectively. Variance components linkage methods identified a LOD score of 2.61 at 98 cM near the marker D16S515 in Quebec-wide families and an LOD score of 2.96 at 86 cM near the marker D16S2624 in SLSJ families. In the Quebec-wide sample, four families showed segregation over a 25.5-cM (18 Mb) region, which was further reduced to 6.6 Mb with additional markers. The coding regions of all genes within this region were sequenced. A missense variant in CHST6 segregated in four families and, with additional families, we observed a P value of 0.015 for this variant. However, an association study of this single-nucleotide polymorphism (SNP) in unrelated Quebec-wide samples was not significant. We also identified an SNP (rs11646677) in the same region, which was significantly associated with a low HDL-C (P=0.016) in the SLSJ study sample. In addition, RT-PCR results from cultured cells showed a significant difference in the expression of CHST6 and KIAA1576, another gene in the region. Our data constitute additional evidence for a locus on chromosome 16q23-24 that affects HDL-C levels in two independent French-Canadian studies.
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