ArticleHuman genetics2010
A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
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 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Pooled it
- Interpretable deep survival analysis of Alzheimer's disease via metabolic genetic variants.Bioinformatics (Oxford, England) · 2026Article
- Diet-Induced Obesity Induces Transcriptomic Changes in Neuroimmunometabolic-Related Genes in the Striatum and Olfactory Bulb.International journal of molecular sciences · 2024Article
- Common protein-coding variants influence the racing phenotype in galloping racehorse breeds.Communications biology · 2022Article
- Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.Biochemical genetics · 2022Review
- Genome-Wide Association Study of Body Mass Index and Body Fat in Mexican-Mestizo Children.Genes · 2019Article
- Genomic structural variations for cardiovascular and metabolic comorbidity.Scientific reports · 2017Article
- Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma.Nature genetics · 2015Article
- Prediction of breast cancer survival using clinical and genetic markers by tumor subtypes.PloS one · 2015Article
- Article
- The genetics of familial combined hyperlipidaemia.Nature reviews. Endocrinology · 2012Review
- Plasticity in membrane cholesterol contributes toward electrical maturation of hearing.The Journal of biological chemistry · 2011Article
- Genome-wide linkage scan to identify loci associated with type 2 diabetes and blood lipid phenotypes in the Sikh Diabetes Study.PloS one · 2011Article
- Non-clustered protocadherin.Cell adhesion & migrationReview
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
Familial combined hyperlipidemia (FCHL) is a common lipid disorder characterized by the presence of multiple lipoprotein phenotypes that increase the risk of premature coronary heart disease. In a previous study, we identified an intragenic microsatellite marker within the protocadherin 15 (PCDH15) gene to be associated with high triglycerides (TGs) in Finnish dyslipidemic families. In this study we analyzed all four known nonsynonymous SNPs within PCDH15 in 1,268 individuals from Finnish and Dutch multigenerational families with FCHL. Association analyses of quantitative traits for SNPs were performed using the QTDT test. The nonsynonymous SNP rs10825269 resulted in a P = 0.0006 for the quantitative TG trait. Additional evidence for association was observed with the same SNP for apolipoprotein B levels (apo-B) (P = 0.0001) and total cholesterol (TC) levels (P = 0.001). None of the other three SNPs tested showed a significant association with any lipid-related trait. We investigated the expression of PCDH15 in different human tissues and observed that PCDH15 is expressed in several tissues including liver and pancreas. In addition, we measured the plasma lipid levels in mice with loss-of-function mutations in Pcdh15 (Pcdh15(av-Tg) and Pcdh15(av-3J)) to investigate possible abnormalities in their lipid profile. We observed a significant difference in plasma TG and TC concentrations for the Pcdh15(av-3J) carriers when compared with the wild type (P = 0.013 and P = 0.044, respectively). Our study suggests that PCDH15 is associated with lipid abnormalities.
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Registered trials
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