association of polymorphisms at ldlr locus with coronary artery disease independently from lipid profile.

نویسندگان

seyed hamid jamaldini department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.

mojgan babanejad department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.

reza mozaffari department of genetics, cardiogenetic research center, tehran, iran-department of genetics, shahid rajaie cardiovascular medical & research center, tehran, iran.

nooshin nikzat department of genetics, genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.

چکیده

coronary artery disease (cad) is the leading cause of mortality in many parts of the world. genome-wide association studies (gwas) have identified several genetic variants associated with cad in low-density lipoprotein receptor (ldlr) locus. this study was evaluated the possible association of genetic markers at ldlr locus with cad irrespective to lipid profile and as well as the association of these snps with severity of cad in iranian population. sequencing of 2 exons in ldlr gene (exon 2, 12) and part of intron 30 of smarca4 gene include rs1122608, was performed in 170 iranian patients angiographically confirmed cad and 104 healthy controls by direct sequencing. sullivan's scoring system was used for determining the severity of cad in cases. our results showed that homozygote genotypes of rs1122608 (p<0.0001), rs4300767 (p<0.005) and rs10417578 (p<0.007) snps have strong protective effects on the cad. in addition, we found that rs1122608 (gt or tt) was at higher risk of three vessel involvement compared to single vessels affecting (p=0.01).

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عنوان ژورنال:
acta medica iranica

جلد ۵۲، شماره ۵، صفحات ۳۵۲-۳۵۹

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