Association between -14 bp and ZNF polymorphisms of ABCA1 gene promoter and high density lipoprotein cholesterol level and cardiovascular disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 56-59, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-295533
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between polymorphisms at -14 bp and zinc finger protein(ZNF) sites of ATP-binding cassette transporter A1 (ABCA1) gene promotor and high density lipoprotein-cholesterol (HDL-C) level and coronary heart disease (CHD).</p><p><b>METHODS</b>Polymorphisms of Bme13901 restriction site at -14 bp and an insertion/deletion site of ACCCC in variable number of tandem repeats-zinc finger protein(VNTR-ZNF) of ABCA1 gene were detected using PCR in 260 CHD patients and 220 healthy subjects from a Chinese population in Tianjin.</p><p><b>RESULTS</b>CT genotype was most common in both groups with no differences found in between (P> 0.05). No differences were found in the frequencies of the rare T allele for -14 bp (P> 0.05). For the -14 bp site, subjects with CT/TT genotype had a lower serum mean concentration of HDL-C compared with those with the CC genotype (P< 0.05). Genotypic frequencies of VNTR-ZNF were 6.2% for the inserted form, 43.8% for the deleted form and 50.0% for the inserted/deleted form. No significant difference was found in the distribution of allele and genotype, or in the levels of HDL-C between the two groups (P> 0.05).</p><p><b>CONCLUSION</b>The genotypes at -14 bp of ABCA1 gene are associated with the plasma level of HDL-C. HDL-C levels in T allele carriers were significantly lower (P< 0.05). No association was found between variations in ABCA1 VNTR-ZNF and plasma levels of HDL-C, or between the ABCA1 -14 bp and VNTR-ZNF polymorphisms and susceptibility for CHD.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Cardiovascular Diseases
/
Case-Control Studies
/
Promoter Regions, Genetic
/
ATP-Binding Cassette Transporters
/
DNA-Binding Proteins
/
ATP Binding Cassette Transporter 1
/
Genetics
/
Cholesterol, HDL
/
Metabolism
Type of study:
Observational study
/
Risk factors
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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