ADENOSINE DIPHOSPHATE RECEPTOR GENE (P2Y12) SEQUENCE VARIANTS AMONG SWEDISH, PALESTINIAN AND CONGOLESE INDIVIDUALS
Author(s): ,
Mohammad Asees
Affiliations:
Department of Medical Lab. Sciences Faculty of Health Professions,AL-Quds University,ramallah,Palestinian, State of
,
Rania Abu Seir
Affiliations:
Department of Medical Lab. Sciences Faculty of Health Professions,AL-Quds University,ramallah,Palestinian, State of
,
Camilla Hesse
Affiliations:
Programansvarig Biomedicinska analytiker programmet,Institutionen för biomedicin Sahlgrenska Akademin vid Göteborgs Universitet,Göteborgs,Sweden
Ali Reza
Affiliations:
Programansvarig Biomedicinska analytiker programmet,Institutionen för biomedicin Sahlgrenska Akademin vid Göteborgs Universitet,Göteborgs,Sweden
EHA Library. asees M. Jun 15, 2019; 267193; PS1576
Mr. Mohammad asees
Mr. Mohammad asees
Contributions
Abstract

Abstract: PS1576

Type: Poster Presentation

Presentation during EHA24: On Saturday, June 15, 2019 from 17:30 - 19:00

Location: Poster area

Background
The P2Y12 receptor plays a central role in platelet aggregation and thrombus formation. Recently, inter-individual variations in platelet response of healthy untreated individuals were established which was explained by genetic variations in the P2Y12 receptor gene. Several single nucleotide polymorphisms (SNPs) in the P2Y12 receptor have been associated with increased platelet reactivity and risk of cardiovascular diseases.

Aims

This study aimed to evaluate the pathological H2 haplotype (using G52T as a tag-SNP) and 18C>T polymorphisms in three different ethnic groups; Palestinians, Swedish and Congolese. in addition to that, to investigate the effect of H2 haplotype pn palatelt aggregation induced by ADP/TRAP agonists.

Methods

The H2 haplotype and 18C>T SNPs were determined in conveniently selected healthy individuals from different ethnic groups (n=254). The whole exon-3 of P2Y12 was sequenced and analyzed by using ABI PRISM 310 Genetic Analyzer. The major and the minor allele frequencies of the P2Y12 SNPs were determined in the study population and the genetic differences between ethnic groups in P2Y12 were elucidated. In addition, the frequency of the genotypes were calculated among the different ethnic groups.

Results
In this study, five benign single nucleotide polymorphisms (SNPs) were genotyped and identified; 18C>T, 36G>T, 162G>T, 546C>T and 989A>G. The overall frequencies of each SNP in the study population (n=254) was 21.9, 10, 0.4, 0.6 and 0.4%, respectively. The frequency of H2 haplotype was among Swedish 23.6% (n=55), Congolese 12.0% (n=54) and Palestinian 4.1% (n=145). There were significant differences in frequency of H2 haplotype and 18C>T among the ethnic groups (P<0.001). In regard to the pathological SNPs (767G>A [p.Arg256Gln] and (793C>T [Arg265Trp] ) all of the study participants were negative.

Conclusion

There are significant differences in the frequencies of the genetic variants of the P2Y12 exon-3 between the studied ethnic groups. Application of these findings may explain the variable platelet response in healthy individuals and in patient under thienopyridine compounds. Further studies should be performed to study the effect of the genetic variations effect on ADP or TRAP- induced platelet aggregation.

Session topic: 34. Thrombosis and vascular biology - Biology & Translational Research

Keyword(s): Platelet, SNP, Thrombosis

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