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Article

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

  • Authors:
    • Mohsen Naseri
    • Mehdi Hedayati
    • Maryam Sadat Daneshpour
    • Fatemeh Bandarian
    • Fereidoun Azizi
  • View Affiliations / Copyright

    Affiliations: Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran, Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Pages: 496-502
    |
    Published online on: April 24, 2014
       https://doi.org/10.3892/mmr.2014.2177
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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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Copy and paste a formatted citation
Spandidos Publications style
Naseri M, Hedayati M, Daneshpour MS, Bandarian F and Azizi F: Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels. Mol Med Rep 10: 496-502, 2014.
APA
Naseri, M., Hedayati, M., Daneshpour, M.S., Bandarian, F., & Azizi, F. (2014). Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels. Molecular Medicine Reports, 10, 496-502. https://doi.org/10.3892/mmr.2014.2177
MLA
Naseri, M., Hedayati, M., Daneshpour, M. S., Bandarian, F., Azizi, F."Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels". Molecular Medicine Reports 10.1 (2014): 496-502.
Chicago
Naseri, M., Hedayati, M., Daneshpour, M. S., Bandarian, F., Azizi, F."Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels". Molecular Medicine Reports 10, no. 1 (2014): 496-502. https://doi.org/10.3892/mmr.2014.2177
Copy and paste a formatted citation
x
Spandidos Publications style
Naseri M, Hedayati M, Daneshpour MS, Bandarian F and Azizi F: Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels. Mol Med Rep 10: 496-502, 2014.
APA
Naseri, M., Hedayati, M., Daneshpour, M.S., Bandarian, F., & Azizi, F. (2014). Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels. Molecular Medicine Reports, 10, 496-502. https://doi.org/10.3892/mmr.2014.2177
MLA
Naseri, M., Hedayati, M., Daneshpour, M. S., Bandarian, F., Azizi, F."Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels". Molecular Medicine Reports 10.1 (2014): 496-502.
Chicago
Naseri, M., Hedayati, M., Daneshpour, M. S., Bandarian, F., Azizi, F."Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels". Molecular Medicine Reports 10, no. 1 (2014): 496-502. https://doi.org/10.3892/mmr.2014.2177
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