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Association between rs3088440 (G > A) polymorphism at 9p21.3 locus with the occurrence and severity of coronary artery disease in an Iranian population

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Abstract

Background

Several genome-wide association studies showed that a series of genetic variants located at the chromosome 9p21 locus are strongly associated with coronary artery disease (CAD).

Rationale and purpose of the study

In the present study, the relationship of rs3088440 (G > A) in cyclin-dependent kinase inhibitor 2A (CDKN2A) gene site with the presence of coronary artery disease (CAD) and its severity was evaluated in an Iranian population.

Methods and results

The presence of rs3088440 (G > A) genotypes was assessed by polymerase chain reaction-based restriction fragment length polymorphism (PCR–RFLP) technique in 324 CAD patients and 148 normal controls. rs3088440 (G > A) polymorphism was associated with increased risk of CAD in the total population (adjusted OR = 1.76, 95% CI = 1.10–2.82; p-value = 0.017) or in women (adjusted OR = 2.96, 95% CI = 1.34–6.55; p-value = 0.007), but not in the men (adjusted OR = 1.35, 95% CI = 0.70–2.6; p-value = 0.368).

Conclusions

Our findings suggest that the presence of rs3088440 (G > A) is potentially linked with the risk of CAD and its severity in whole study subjects or in women only, independent of CAD risk factors.

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Data availability

The data that support the findings of this study are available from the corresponding author, [author initials], upon reasonable request.

Abbreviations

CDKN2A:

Cyclin-dependent kinase inhibitor 2A

CAD:

Coronary artery disease

PCR-RFLP:

Polymerase chain reaction-based restriction fragment length polymorphism

GWAS:

Genome-wide association studies

SNPs:

Single-nucleotide polymorphisms

CDKN2A:

Cyclin-dependent kinase inhibitor 2A

CDKN2B-AS1:

CDKN2B antisense RNA

ANRIL:

Antisense noncoding RNA in the INK4 locus

UTR:

Untranslated region

CPR:

Cardiopulmonary resuscitation

BMI:

Body mass index

TC:

Total cholesterol

TG:

Triglyceride

HDL-C:

High-density lipoprotein cholesterol

FBS:

Fasting blood sugar

LDL-C:

Low-density lipoprotein cholesterol

OR:

Odds ratio

CI:

Confidence interval

CVD:

Cardiovascular disease

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Funding

This study was supported by a grant from the Deputy of Research and Technology (No. 9705412), Babol University of Medical Sciences, Babol.

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Authors and Affiliations

  1. Student Research Committee, Babol University of Medical Sciences, Babol, Iran

    Mitra Pourgholi

  2. Department of Clinical Biochemistry, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran

    Mitra Pourgholi

  3. Department of Clinical Biochemistry, School of Medicine, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran

    Omid Abazari

  4. Department of Pathology and Laboratory Medicine, Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran

    Leyla Pourgholi & Mohammadali Boroumand

  5. Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, P.O. Box 4136747176, Babol, Iran

    Maryam Ghasemi-Kasman

Authors
  1. Mitra Pourgholi
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  2. Omid Abazari
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  3. Leyla Pourgholi
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  4. Maryam Ghasemi-Kasman
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  5. Mohammadali Boroumand
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Contributions

MP, OA, and LP: collected and analyzed data. MP, OA, and MG-K: manuscript preparation. MG-K and MB: designed and supervised the study.

Corresponding authors

Correspondence to Maryam Ghasemi-Kasman or Mohammadali Boroumand.

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Conflict of interest

The authors declare no conflict of interest related to this study.

Informed consent

All procedures followed the ethical standards of the responsible committee on human experimentation at Tehran Heart Center and Babol University of Medical Sciences (Approval No. IR.MUBABOL.HRI.REC.1397.062). Informed consent was obtained from all subjects for being included in the study.

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Pourgholi, M., Abazari, O., Pourgholi, L. et al. Association between rs3088440 (G > A) polymorphism at 9p21.3 locus with the occurrence and severity of coronary artery disease in an Iranian population. Mol Biol Rep 48, 5905–5912 (2021). https://doi.org/10.1007/s11033-021-06587-4

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  • DOI: https://doi.org/10.1007/s11033-021-06587-4

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