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Association ofMitochondrial T16519C polymorphism with Coronary Artery Disease (CAD) in Iranian patients underwent coronary angiography

Authors: Reza Ghadiri Rad, Shahrokh Karbalaie Saleh, Ali Samadi Kouchaksaraei, Massoud Houshmand, Ali Salehi and Fatemeh Arabgari

Int J Med Res Health Sci.132-145 | pdf PDF Full Text

ABSTRACT
Early diagnosis, before manifestation of symptoms or identifying susceptibility to diseases can reduce the severity
and prevalence and may even control or inhibit the disease progression. Now the relationship between the incidence
of cardiovascular diseases and certain types of haplotypes of human mtDNA (mitochondrial DNA) have been
substantiated and investigation of the frequency of particular types of cases and controls can reveal this connection.
Substitution of T to C at nucleotide position 16189 in the hypervariable D-loop of the control region (CR) of
mitochondrial DNA (mtDNA) has attracted research interest because of its suspected association with various
multifactorial diseases. The objective of the current study was to identify and evaluate different haplotype mtDNA
and examine their relationship to the incidence of coronary artery disease in different haplogroups in Iranian
patients visiting SINA hospital in Tehran. A total of 70 participants (including 40 males and 30 females) visiting the
Cath Lab (angiography) of SINA hospital were selected according to the index of stenosis (CSI). After obtaining
informed consent, approximately 5cc of blood sample from each patient was taken and sent to the laboratory. Total
DNA (50 μg) of blood samples were extracted using primers of D-Loop- a specific region of mtDNA, the replicative
samples (HVS regions) were then seperated by electrophoresis process and quality of amplicon (product) was
confirmed. This step was followed by sequencing and compared with the reference sequence. According to the SNP,
polymorphisms and mutations, and the percentage of their presence in case and control populations were studied
and the data analyzed. Items have been composed of haplotype 263 A>G (maximum) with 62 samples from 34
patients and 23 healthy and 5 mild cases, 310-311 insC with 61 samples from 35 patients, 21 healthy and 5 slight,
variant 750 A>G with 59 persons of 33 patients, 20 healthy and 6 average, other SNP 73 A>G with 45 samples
from 23 patients, 17 healthy and 5 average, 40 varieties of 16519 T>C with 24 patients, 13 healthy and 3 middle
and 32 of the 309-310 ins C with 17 patients, 10 healthy and 5 are mild cases. Some changes, such as C>T and
insCC, regardless of position, as well as history and ethnic studies were evaluated. The 263 A>G, 310-311 insC,
750 A>G, 73 A>G, 16519 T>C and 309-310 insC with high frequency are more important in patients with
cardiovascular disorders. These changes (except 750 A>G and sex variable) have been previously established with
certain diseases, however in the present study no particular allelic association were revealed. In this study
susceptibility of men against women is 6.6 times and 750 A>G significantly increases 1.6 times the risk of CAD.
Keywords:Coronary Artery Disease (CAD), Reference Sequence, Mitochondrial DNA (mtDNA), Haplotype,
Haplogroup, Single Nucleotide Polymorphism (SNP), Coronary Stenosis Index (CSI)

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