ABCMdb

PMID: 24649047

Zargar S, Wakil S, Mobeirek AF, Al-Jafari AA
Involvement of ATP-binding cassette, subfamily A polymorphism with susceptibility to coronary artery disease.
Biomed Rep. 2013 Nov;1(6):883-888. Epub 2013 Sep 2., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCA1 p.Arg219Lys The presence of SNP rs2230806 (R219K variant) in exon 7 of the ABCA1 gene (c.969A࢐G) was determined for each sample. Login to comment 40 ABCA1 p.Arg219Lys The presence of the missense mutation at nucleotide 969 (AGG to AAG), which leads to the replacement of arginine with lysine at codon 219, was evaluated in genomic DNA by polymerase chain reaction (PCR)ߛRFLP analysis, according to methods described by Cook et al (17). Login to comment 75 ABCA1 p.Arg219Lys There was no significant difference in the correlation between age and HDL and triglyceride levels in individuals carrying different rs2230806 (R219K) genotypes (data not shown). Login to comment 108 ABCA1 p.Arg219Lys In a subset of the samples, sequencing was used to validate the GG, AA and GA genotypes of the R219K polymorphism that were identified by RFLP (Fig. 1). Login to comment 112 ABCA1 p.Arg219Lys We also observed an association between triglyceride levels and the R219K polymorphism, but no significant associations were observed for other lipid parameters. Login to comment 113 ABCA1 p.Arg219Lys The most common missense polymorphism in the coding region of the ABCA1 gene is R219K, with an allelic frequency of 25ߛ46% in the Caucasian population. Login to comment 114 ABCA1 p.Arg219Lys Two large studies including 2,028 and 794 individuals resulted in contradictory conclusions regarding the possible role of rs2230806 (R219K) in arteriosclerosis. Login to comment 115 ABCA1 p.Arg219Lys One study reported an elevated R219K allelic frequency in patients with CHD and a low HDL level compared to diseaseߛfree individuals, suggesting that the mutant allele is likely associated with decreased HDL levels, the promotion of arteriosclerosis and the subsequent development of CHD (11). Login to comment 116 ABCA1 p.Arg219Lys The other study reported a decreased R219K allelic frequency in patients with CHD in conjunction with high observed levels of HDL, suggesting that the mutant allele conferred a protective effect (22). Login to comment 122 ABCA1 p.Arg219Lys In this study, we observed a correlation between the R219K allele and lipid parameters, although the observed associations were not very significant, except for the associations with HDLߛC levels (P=0.02). Login to comment