Publication:

Genetic analysis of the M2/ANXA5 haplotype in Syrian healthy population

Background Annexin A5 (ANXA5) is an abundantly and ubiquitously expressed protein showing the highest levels of concentration in kidney, liver and placenta. ANXA5 plays a central role in the machinery of membrane repair by enabling of a protective 2D bandage at membrane damaged site, has properties anti-inflammatory, pro-fibrinolytic and anti-thrombotic. Four polymorphisms have been identified in the ANXA5 promoter, which were transmitted as a joint haplotype (M2). M2 haplotype decrease the ANXA5 gene promoter activity and mRNA expression which causes several troubles.

Methods The aim of this cross-sectional study is to determine the frequency of M2/ANXA5 haplotype in healthy Syrian individuals and compare the genotype and allele distribution with other populations. In this study 94 (female, 71 and male, 23) unrelated healthy Syrian nationals were involved. 94 DNA samples have been collected in order to determine the spread the genotype M2 haplotype using allele specific polymerase chain reaction (AS-PCR).

Results Our results indicate that the distribution of the alleles and genotypes of M2 haplotype vary considerably in different populations. In the Syrian population the distribution of M2 and wide type (WT) were M2/M2 9.6%, M2/WT 44.7%, WT/WT 45.7%. The M2 haplotype was found in 45 of women (allele frequency 31%) and in 15 of men (allele frequency 32%). The distribution of the ANXA5 genotypes in Syrian study group conformed to Hardy-Weinberg equilibrium (p=0.92).

Conclusions No significant differences were found at frequency distribution of different genotypes and M2 allele between women and men within this Syrian cohort. In comparison with the results of other studies, the results of this study demonstrate that the frequency and distribution of the M2 haplotype in Syrian population are different from most other populations worldwide.