A genetic variant (S4338N) in apolipoprotein B gene in hypercholesterolemic families from Pakistan

Mortality due to coronary heart disease (chd) has increased in recent decades and risk of chd increases many folds in patients with hypercholesterolemia. familial hypercholesterolemia (fh) is a genetic disorder associated with autosomal dominant mutations in any of 3 genes namely ldlr,apob,and pcsk9. we aimed to assess genetic variations in exon 29 of apolipoprotein b (apob) gene in fh patients from 10 affected families of punjab origin. a guanine to adenine change (c.g13013a; rs1042034) was detected in 9 families,resulting in serine to asparagine change (p.ser4338asn,s4338n). the s4338n polymorphism was further screened in 95 chd patients and 96 healthy individuals with normal cholesterol level to determine its relation with chd. the distribution of s4338n polymorphism was found to be significantly different in chd and control groups (p = 0.0008; rr (95% ci) = 0.685 (0.543,0.864); odds ratio (95% ci) = 0.486 (0.319,0.739),suggesting that s4338n polymorphism in apob gene may have minor contribution in early development of coronary heart disease and therefore can be considered as a genetic marker for disease risk assessment. © copyright 2016 zoological society of pakistan.