Study of Genetic Risk Factors for Cardiovascular Disease in the Iranian Population by Means of Reverse-Hybridization Teststrips

Abstract number: P0067

Oberkanins¹ C, Amini² SH, Ghamari³ A, Kahrizi³ K, Pühringer¹ H, Najmabadi^2,3 H

^{2,3 11}ViennaLab Labordiagnostika GmbH, Vienna, Austria ¹¹ViennaLab Labordiagnostika GmbH, Vienna, Austria ²²Kariminejad/Najmabadi Genetic and Pathology Center, Tehran, Iran ³³Genetics Research Center, Social Welfare and Rehabilitation Sciences University, Tehran, Iran

A number of genetic and environmental risk factors have been found or suspected to predispose to cardiovascular disease (CVD), the term collectively used for disorders of the heart and blood vessels. We have developed a reverse-hybridization assay (CVD StripAssay) for the rapid and simultaneous detection of twelve candidate CVD risk factors (Factor V Leiden, Factor V R2, Prothrombin G20210A, Factor XIII V34L, beta-Fibrinogen -455 G-A, PAI-1 4G/5G, GPIIIa L33P, MTHFR C677T, MTHFR A1298C, ACE Ins/Del, Apo B R3500Q, Apo E2/E3/E4). The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes for each mutation. We have applied these teststrips to investigate the prevalence of CVD risk mutations among 208 asymptomatic Iranians from different regions and ethnic groups. The allele frequencies of mutant Factor V Leiden (1.2%) and Prothrombin G20210A (0.5%) in our cohort were below previously published figures on the population of Tehran (2.7% and 1.5%, respectively; Zeinali et al. 2000). Mutant MTHFR C677T (24.8%) and Factor XIII V34L (14.2%) occurred less frequently than among Europeans, but exceeded the much lower frequencies known from India and most of Asia. The prevalence of mutant MTHFR A1298C in our study population (41.8%), however, was remarkably high. Apo E2 (4.6%) and E4 (5.8%) alleles were observed in relatively low frequencies compared to population studies in Europe and the USA. Our comprehensive population data should represent a valuable basis for further investigation on the contributions of genetic CVD risk factors in Iran. (oberkanins@viennalab.co.at)