The value of HDL genetics

Holleboom, Adriaan G.; Vergeer, Menno; Hovingh, G. Kees; Kastelein, J.; Kuivenhoven, Jan Albert

doi:10.1097/mol.0b013e328306a043

Cited by 63 publications

(49 citation statements)

References 116 publications

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“…GALNT2 encodes for N-actetylgalactosaminyltransferase 2, which is involved in the fi rst step of O-linked glycosylation of proteins ( 161 ). O-linked glycosylations are known to regulate protein function; hence, it is hypothesized that GALNT2 affects HDL-C and TGs indirectly through the glycosylation of proteins involved in the lipid metabolism ( 174 ). For instance, LCAT, apoCIII, VLDL, and LDLR are all O-glycosylated with N-acetylgalactosamine residues (175)(176)(177).…”

Section: Linkage and Candidate-gene Studies For Analyzing Polygenic Hmentioning

confidence: 99%

Genetic causes of high and low serum HDL-cholesterol

Weissglas‐Volkov

Pajukanta

2010

Journal of Lipid Research

179

132

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Section: Linkage and Candidate-gene Studies For Analyzing Polygenic Hmentioning

confidence: 99%

Genetic causes of high and low serum HDL-cholesterol

Weissglas‐Volkov

Pajukanta

2010

Journal of Lipid Research

179

132

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“…To date, the extent to which it would be possible to explain a low or high HDL phenotype in a person by studying the genetic makeup is not known. On the basis of the present literature, Holleboom et al ( 28 ) denoted 10 genes with proven association to HDL-C levels (ApoA-I, LCAT, LIPC, CETP, SCARB1, ABCG1, ATP5B, PLTP, LIPG, and APOM). Recently, several genome-wide association studies of circulating lipid levels have identifi ed numerous loci of evidence suggest that a signifi cant amount of the apoA-I in plasma of mice defi cient in PCPE2 was present as a proform compared with wild-type littermates.…”

Section: Downloaded Frommentioning

confidence: 99%

“…It is important to acknowledge that a strong association of polymorphisms and HDL levels is only phenotypically manifested for a few genes with either high penetrance or studied in large populations ( 28 ). A remarkable example is the gene coding for HMG-CoA reductase (HMGCR).…”

Section: Downloaded Frommentioning

confidence: 99%

Disruption of the murine procollagen C-proteinase enhancer 2 gene causes accumulation of pro-apoA-I and increased HDL levels

Francone

Ishida

Llera-Moya

et al. 2011

Journal of Lipid Research

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“…While loss-of-function mutations in apolipoprotein A-I (APOA1), LCAT or ATP cassette transporter A1 (ABCA1) cause monogenic HDL-C deficiencies, single gene defects in hepatic lipase (LIPC) or cholesteryl ester transfer protein (CETP) are associated with high HDL-C levels in humans (7,8). LCAT, first described in 1962 (9), is a soluble enzyme that has a central role in the formation and maturation of HDL-C.…”

Section: Introductionmentioning

confidence: 99%

Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL-C levels

Naseri

Hedayati

Daneshpour

et al. 2014

Molecular Medicine Reports

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Abstract. Among the most common lipid abnormalities, a low level of high-density lipoprotein-cholesterol (HDL-C) is one of the first risk factors identified for coronary heart disease. Lecithin cholesterol acyltransferase (LCAT) has a pivotal role in the formation and maturation of HDL-C and in reverse cholesterol transport. To identify genetic loci associated with low HDL-C in a population-based cohort in Tehran, the promoter, coding regions and exon/intron boundaries of LCAT were amplified and sequenced in consecutive individuals (n=150) who had extremely low or high HDL-C levels but no other major lipid abnormalities. A total of 14 single-nucleotide polymorphisms (SNPs) were identified, of which 10 were found to be novel; the L393L, S232T and 16:67977696 C>A polymorphisms have been previously reported in the SNP Database (as rs5923, rs4986970 and rs11860115, respectively) and the non-synonymous R47M mutation has been reported in the Catalogue of Somatic Mutations in Cancer (COSM972635). Three of the SNPs identified in the present study (position 6,531 in exon 5, position 6,696 in exon 5 and position 5,151 in exon 1) led to an amino acid substitution. The most common variants were L393L (4886C/T) in exon 6 and Q177E, a novel mutation, in exon 5, and the prevalence of the heterozygous genotype of these two SNPs was significantly higher in the low HDL-C groups. Univariate conditional logistic regression odds ratios (ORs) were nominally significant for Q177E (OR, 5.64; P=0.02; 95% confidence interval, 1.2-26.2). However, this finding was attenuated following adjustment for confounders. Further studies using a larger sample size may enhance the determination of the role of these SNPs.

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The value of HDL genetics

Abstract: This review provides a summary of the current literature on the genetics of HDL. New information from this research area may assist us in obtaining a better understanding of HDL biology and identifying novel pharmacological targets.

Cited by 63 publications

References 116 publications

Genetic causes of high and low serum HDL-cholesterol

Genetic causes of high and low serum HDL-cholesterol

Disruption of the murine procollagen C-proteinase enhancer 2 gene causes accumulation of pro-apoA-I and increased HDL levels

Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL-C levels

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