Effect of genetic factors on the association between coronary artery disease and PTPN22 polymorphism

作     者：Fulvia Gloria-Bottini Patrizia Saccucci Maria Banci Paolo Nardi Mattia Scognamiglio Antonio Pellegrino Egidio Bottini Luigi Chiariello 

作者机构：Department of Biomedicine and PreventionSchool of MedicineUniversity of Rome Tor Vergata00133 RomeItaly Department of CardiologyValmontone Hospital Department of Cardiac SurgeryUniversity of Rome Tor VergataSchool of Medicine 

出 版 物：《World Journal of Cardiology》 (世界心脏病学杂志（英文版）（电子版）)

年 卷 期：2014年第6卷第6期

页      面：376-380页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Coronary artery disease PTPN22 Acid phosphatse locus 1 Adenosine deaminase 2 p53 codon 72 

摘      要：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 diseasewithout 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.