Balkan Journal of Medical Genetics

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

INTRODUCTION

Apolipoprotein B (apoB) is the predominant apolipoprotein found in atherogenic low-density lipoprotein (LDL). Raised serum apoB levels are associated with increased risk of coronary artery disease (CAD) [1-3]. Similar results have also been reported from our laboratory [4,5]. The gene encoding for the APOB has been cloned and sequenced. It is 45 kb in length with 29 exons [6]. The APOB gene is known to have several sequences which are the recognition sites for various restriction enzymes. Polymorphism in the APOB gene with respect to the EcoR1 restriction site exists due to a change in guanidine to adenine at exon 29, leading to the substitution of glutamine for lysine at position 4154 in the apoB polypeptide product [7]. This nucleotide change leads to loss of the EcoR1 restriction site. The wild type and the mutated alleles are designated as R+ and R–, respectively. The frequency of the R– allele has been reported to be more prevalent in CAD patients as compared to normal subjects in some but not all populations, thus suggesting that subjects having the R– allele are probably more susceptible to CAD development [8-13]. Some investigators reported the positive association of the R– allele with raised serum lipid levels [12], while others reported no such association [11]. The available reports indicate considerable variation in linking APOB gene polymorphism (c.12669G>A,p.Gln4154Lys) with CAD risk in different populations. The present study aimed to investigate the role of this APOB gene polymorphism with CAD in the Indian Punjabi population. Punjabi’s are known to consume a fat-rich diet and are genetically more prone to CAD development. The present study would help in delineating a subset population at higher or lower risk of CAD. To the best of our knowledge, no such study has so far been done on the native Indian Punjabi population.

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