ROLE OF THE APOB GENE POLYMORPHISM (c.12669G>A,
p.Gln4154Lys) IN CORONARY ARTERY DISEASE IN
THE INDIAN PUNJABI POPULATION
Sharma R1,*, Mahajan M2, Singh B1, Singh G3, Singh P3
*Corresponding Author: Ritu Sharma, Department of Biochemistry, Government Medical College, Circular
Road, Amritsar-143001, Punjab, India; Tel.: +91-183-257-3637; Fax: +91-183-242-6506: E-mail: ritu_gmc@
rediffmail.com
page: 35
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Abstract
High concentration of apolipoprotein B (apoB)
is a risk factor for coronary artery disease (CAD).
The association of the APOB gene polymorphism
c.12669G>A, p.Gln4154Lys with the risk of CAD varies
considerably in different populations. The present
study represents the first investigation regarding the
role of this APOB gene polymorphism with CAD in the
Indian Punjabi population. We have studied the APOB
gene polymorphism c.12669G>A, p.Gln4154Lys and
its relationship with lipid, apoB, low-density lipoprotein
(LDL) heterogeneity and oxidation in subjects
suffering from CAD. The study was conducted on
87 patients with CAD; 75 healthy subjects served as
controls. Polymerase chain reaction-restriction fragment
length polymorphism (PCR-RFLP) was used to
determine the DNA polymorphism in the APOB gene.
Frequency of R– (mutant) allele was significantly high
(p <0.05) in CAD patients when compared to controls.
Variations in serum lipid levels in the R+R+ and
R+R– APOB genotypes were insignificant (p >0.05).
However, serum apoB levels were significantly raised
(p <0.05) in CAD patients with the R+R– genotype
as compared to those with the R+R+ APOB genotype.
Coronary artery disease patients had raised significantly
raised (p <0.01) Log triglyceride/high density
lipoprotein-cholesterol (HDL-C) ratio, apoB carbonyl
content and increased malondialdehyde-low density
lipoprotein (MDA-LDL levels, irrespective of APOB
genotype as compared to controls. Carriers of the R–
allele are at higher risk of CAD, probably because of
elevated serum apoB levels in the Indian Punjabi population.
Overall, it may be concluded that the R– allele
might be associated with increased susceptibility towards
CAD development in the Indian Punjabi population,
and one of the linking factor is the elevation
in serum apoB levels. However, this association needs
further evaluation in a larger population. Secondly, the
robust mechanism behind the positive association of
the R– allele with raised serum apoB levels needs to be
explored, which might be helpful in the strengthening
the observed results.
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