Platelet glycoprotein Ibα and integrin α2β1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel

J DI PAOLA; A JUGESSUR; T GOLDMAN; J REILAND; D TALLMAN; C SAYAGO; J. C MURRAY

doi:10.1111/j.1538-7836.2005.01273.x

Back

Platelet glycoprotein Ibα and integrin α2β1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel

Journal article

Open access

Peer reviewed

Platelet glycoprotein Ibα and integrin α2β1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel

J DI PAOLA, A JUGESSUR, T GOLDMAN, J REILAND, D TALLMAN, C SAYAGO and J. C MURRAY

Journal of thrombosis and haemostasis, Vol.3(7), pp.1511-1521

07/2005

DOI: 10.1111/j.1538-7836.2005.01273.x

PMID: 15978109

Files and links (1)

url

https://doi.org/10.1111/j.1538-7836.2005.01273.xView

Published (Version of record) Open Access

Abstract

Genetic variants in the GP1BA and ITGA2 genes have been proposed as potential modifiers for arterial vascular disease and bleeding disorders. Since ancestry may play an important role in the prevalence of these variants, we sought to determine their allele frequency and linkage disequilibrium in a collection of 1064 DNA samples from 51 ethnic groups. We studied haplotypes of ITGA2 defined by single nucleotide substitutions at positions −52, 807, and 1648, and GP1BA variants defined by sequence changes in positions −5 (Kozak), 1018 (T145M, HPA‐2) and 1285 (VNTR A, B, C and D). Frequency of haplotypes of ITGA2 showed considerable variation across the different groups, with a higher prevalence of the haplotype −52C or T/807C/1648A observed in African compared with caucasian and Asian populations. The haplotypes 52C/807T/1648A and −52T/807T/1648A were not observed in caucasians or South Americans. While relative frequencies of the GP1BA Kozak alleles were comparable across groups, the methionine allele (HPA‐2b) showed a higher frequency in Africa (0.26) than in the other groups. We also observed a high prevalence of the VNTR B allele in the African and Israeli populations. Haplotype analysis revealed incomplete linkage disequilibrium between the HPA‐2 and VNTR alleles. Incorporation of GP1BA variants into the set of SNPs already genotyped by the HapMap project disrupted the pre‐existing haplotype block. These data provide a valuable resource for optimal selection of variants best tailored for association studies of vascular disease or bleeding disorders when examining individuals of different ancestral origins.

HapMap

Haplotype blocks

Haplotype‐tagging SNP

genetic polymorphisms

platelets

linkage disequilibrium

Details

Title: Subtitle: Platelet glycoprotein Ibα and integrin α2β1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel
Creators: J DI PAOLA
A JUGESSUR
T GOLDMAN
J REILAND
D TALLMAN
C SAYAGO
J. C MURRAY
Resource Type: Journal article
Publication Details: Journal of thrombosis and haemostasis, Vol.3(7), pp.1511-1521
DOI: 10.1111/j.1538-7836.2005.01273.x
PMID: 15978109
NLM abbreviation: J Thromb Haemost
ISSN: 1538-7933
eISSN: 1538-7836
Publisher: Blackwell Science Inc; Oxford, UK
Number of pages: 11
Language: English
Date published: 07/2005
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025469602771

Metrics

20 Record Views

31 Times Cited - Web of Science