StyI polymorphism at nucleotide 1610 in the human platelet glycoprotein Ib alpha gene

Suzuki, Keijiroh; Hayashi, Tomohiro; Akiba, Jiro; Yahagi, Akito; Tajima, Katsushi; Satoh, Shuichi; Sasaki, Hideo

doi:10.1007/bf01876333

Cited by 4 publications

(1 citation statement)

References 9 publications

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“…Recently, three more polymorphisms in the GP Ib␣ gene not affecting the predicted amino acid sequence of the molecule have been characterized, and their distribution has been described in Caucasian populations (7,9). The E/F dimorphism is a silent C➝ T point mutation on the second base of the codon for Asn242, whereas the K/L alleles (A➝G) are at position Arg342 (9,10). The S/R system is of particular interest, resulting from a T➝ C change at position -5 from the ATG start codon (9).…”

Section: Introductionmentioning

confidence: 99%

A Common Polymorphism Flanking the ATG Initiator Codon of GPIbα Does not Affect Expression and Is not a Major Risk Factor for Arterial Thrombosis

Corral¹,

Lozano²,

Gónzález-Conejero³

et al. 2000

Thromb Haemost

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SummaryThe platelet membrane glycoprotein (GP) Ibα plays a key role in the initial formation of thrombi. Polymorphisms (VNTR and HPA-2) in this receptor are associated with increased risk of coronary heart disease (CHD) and cerebral vascular disease (CVD). We investigated whether a recently described polymorphism (S/R), due to a single base change (T → C) five nucleotides upstream the initiator codon of GPIbα, might influence the expression of the protein, and be implicated in the development of arterial thrombosis.One hundred and thirty nine healthy individuals provided blood samples for DNA analysis of platelet GPIbα polymorphisms, and for flow cytometric analysis of the surface expression of the receptor. A group of 20 S/R normal individuals and an identical number of S/S participants, age and sex matched, was investigated for the analysis of the density of various platelet receptors. The distribution of the S/R polymorphism was also analyzed in two case/control studies including 104 CVD patients, 101 CHD patients, and one control age, sex, and environmental risk factors matched for each case patient. Surface density of GPIbα showed no wide variations between individuals, was not influenced by the presence of S or R alleles, nor associated with the VNTR or HPA-2 polymorphisms. The prevalence of the S/R genotype among CVD and CHD patients was not distinct from that in the control groups. We conclude that the S/R polymorphism of GPIbα, flanking the initiator codon of the receptor, does not seem to be associated with surface levels of the protein, and is not an independent risk factor for arterial thrombosis.

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Section: Introductionmentioning

confidence: 99%

A Common Polymorphism Flanking the ATG Initiator Codon of GPIbα Does not Affect Expression and Is not a Major Risk Factor for Arterial Thrombosis

Corral¹,

Lozano²,

Gónzález-Conejero³

et al. 2000

Thromb Haemost

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Bernard-Soulier syndrome: Common ancestry in two African American families with the GP Ib? Leu129Pro mutation

Antonucci¹,

Martin²,

Hulick³

et al. 2000

Am. J. Hematol.

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Bernard-Soulier syndrome (BSs) is a rare bleeding disorder characterized by circulating giant platelets, thrombocytopenia, and a prolonged bleeding time. BSs usually has an autosomal recessive inheritance pattern, with a preponderance of Caucasian and Japanese ancestry when the ethnic background has been reported. Underlying this disorder of platelet function is a defect in the platelet glycoprotein (GP) Ib-IX-V complex, composed of four polypeptides, GP Ib alpha, GP Ib beta, GP IX, and GP V. Molecular characterization of individuals with BSs has identified mutations in the GP Ib alpha, GP Ib beta, and GP IX genes responsible for the expressed phenotype. In this study, we report a family of African-American descent, with autosomal recessive BSs showing a point mutation in codon 129 of the GP Ib alpha gene. This mutation, CTC:wild-type to CCC:mutant, is similar to that of another African American family where the resulting leucine to proline substitution in the 5(th) leucine-rich repeat of GP Ib alpha is responsible for the observed BSs phenotype. Comparison of the intragenic polymorphisms of GP Ib alpha, as well as microsatellite markers in a 17.5 cM region of chromosome 17p12 that contains the GP Ib alpha gene, suggests that, although socially unrelated, the Leu129Pro mutation in these two families has a common founder.

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Bernard-Soulier Syndrome

López

Andrews

Afshar-Kharghan

et al. 1998

Blood

478

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StyI polymorphism at nucleotide 1610 in the human platelet glycoprotein Ib alpha gene

Cited by 4 publications

References 9 publications

A Common Polymorphism Flanking the ATG Initiator Codon of GPIbα Does not Affect Expression and Is not a Major Risk Factor for Arterial Thrombosis

A Common Polymorphism Flanking the ATG Initiator Codon of GPIbα Does not Affect Expression and Is not a Major Risk Factor for Arterial Thrombosis

Bernard-Soulier syndrome: Common ancestry in two African American families with the GP Ib? Leu129Pro mutation

Bernard-Soulier Syndrome

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