ArticlePloS one2012
Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Gene-gene interaction detection with deep learning.Communications biology · 2022Article
- Role of GALNT2 on Insulin Sensitivity, Lipid Metabolism and Fat Homeostasis.International journal of molecular sciences · 2022Review
- Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins.PLoS genetics · 2021Article
- Review
- HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics.Current cardiology reports · 2017Review
- Polygenic determinants in extremes of high-density lipoprotein cholesterol.Journal of lipid research · 2017Article
- Analysis to Estimate Genetic Variations in the Idarubicin-Resistant Derivative MOLT-3.International journal of molecular sciences · 2016Article
- Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.Journal of cellular and molecular medicine · 2016Article
- A glycogene mutation map for discovery of diseases of glycosylation.Glycobiology · 2015Article
- Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.Journal of lipid research · 2014Article
- A preliminary study of the relationship between promoter methylation of the ABCG1, GALNT2 and HMGCR genes and coronary heart disease.PloS one · 2014Article
- First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene.Computational and mathematical methods in medicine · 2014Article
- Hunting human disease genes: lessons from the past, challenges for the future.Human genetics · 2013Review
- Diagnosis and management of familial dyslipoproteinemias.Current cardiology reports · 2013Review
- Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults.Lipids in health and disease · 2013Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To date, few mutations are described to underlie highly-elevated HDLc levels in families. Here we sequenced the coding regions and adjacent sequence of the LIPG, CETP, and GALNT2 genes in 171 unrelated Dutch Caucasian probands with HDLc≥90th percentile and analyzed segregation of mutations with lipid phenotypes in family members. In these probands, mutations were most frequent in LIPG (12.9%) followed by GALNT2 (2.3%) and CETP (0.6%). A total of 6 of 10 mutations in these three genes were novel (60.0%), and mutations segregated with elevated HDLc in families. Interestingly, the LIPG mutations N396S and R476W, which usually result in elevated HDLc, were unexpectedly found in 6 probands with low HDLc (i.e., ≤10th percentile). However, 5 of these probands also carried mutations in ABCA1, LCAT, or LPL. Finally, no CETP and GALNT2 mutations were found in 136 unrelated probands with low HDLc. Taken together, we show that rare coding and splicing mutations in LIPG, CETP, and GALNT2 are enriched in persons with hyperalphalipoproteinemia and segregate with elevated HDLc in families. Moreover, LIPG mutations do not overcome low HDLc in individuals with ABCA1 and possibly LCAT and LPL mutations, indicating that LIPG affects HDLc levels downstream of these proteins.
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