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World J Cardiol. Jun 26, 2014; 6(6): 376-380
Published online Jun 26, 2014. doi: 10.4330/wjc.v6.i6.376
Effect of genetic factors on the association between coronary artery disease and PTPN22 polymorphism
Fulvia Gloria-Bottini, Patrizia Saccucci, Maria Banci, Paolo Nardi, Mattia Scognamiglio, Antonio Pellegrino, Egidio Bottini, Luigi Chiariello
Fulvia Gloria-Bottini, Patrizia Saccucci, Egidio Bottini, Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy
Maria Banci, Department of Cardiology, Valmontone Hospital, 00038 Valmontone, Italy
Paolo Nardi, Mattia Scognamiglio, Antonio Pellegrino, Luigi Chiariello, Department of Cardiac Surgery, University of Rome Tor Vergata, School of Medicine, 00133 Rome, Italy
Author contributions: Gloria-Bottini F, Pellegrino A, Bottini E and Chiariello L contributed equally to the ideation of this research and wrote the paper; Saccucci P, Banci M, Nardi P and Scognamiglio M contributed to the data collection and statistical analysis; all authors contributed to the final revision of the paper.
Correspondence to: Fulvia Gloria-Bottini, MD, Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. gloria@med.uniroma2.it
Telephone: +39-6-30889514 Fax: +39-6-30889514
Received: December 12, 2013
Revised: January 16, 2014
Accepted: May 8, 2014
Published online: June 26, 2014
Processing time: 195 Days and 16.6 Hours
Abstract

PTPN22 has been previously found associated with coronary artery disease (CAD). In the present note we have studied the effect of p53 codon 72, acid phosphatse locus 1 (ACP1) and adenosine deaminase (ADA) genetic polymorphism on the strength of association between PTPN22 and CAD. We have studied 133 non diabetic subjects with CAD, 122 non diabetic cardiovascular patients without CAD and 269 healthy blood donors. Informed written consent was obtained from all subjects and the study was approved by the Ethical Committee. A high significant association between PTPN22 and CAD is observed in carriers of *A allele of ACP1 with a higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to controls and to non diabetic subjects with cardiovascular disease without CAD. A similar pattern is observed in carriers of *Pro allele of p53 codon 72 with a higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to other groups. A highly significant association between PTPN22 and CAD is observed in carriers of ADA2 *2 allele with higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to other group. There is a high significant correlation between the number of factors that contributes to increase the strength of association between PTPN22 *T and CAD and the proportion of *T carriers in CAD. ACP1, p53 codon 72 and ADA are involved in immune reaction and give an important additive contribution to the strength of association between PTPN22 and CAD. This study stresses the importance of the simultaneous analysis of multiple genes functionally related to a specific disease: the approach may give important hints to understand multifactorial disorders.

Keywords: Coronary artery disease; PTPN22; Acid phosphatse locus 1; Adenosine deaminase 2; p53 codon 72

Core tip: Acid phosphatse locus 1, p53 codon 72 and adenosine deaminase have an important role in immune reactions and influence the strength of association between coronary artery disease (CAD) and PTPN22 an enzyme involved in autoimmunity. These results agree with multifactorial origin of CAD.