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Association of genetic variants of fibrinolytic system with stroke and stroke subtypes.
Gene. 2012 Mar 01; 495(1):76-80.GENE

Abstract

Genetic variants of tPA (PLAT) and PAI-1 genes have been suggested to be the risk factors for stroke. In the present case-control study we investigated the association of -7351C/T polymorphism (rs2020918) and I/D polymorphism of tPA gene and Insertion/deletion polymorphism (4G/5G) of PAI-1 gene with genetic predisposition to ischemic stroke. 516 stroke patients and 513, sex and age matched healthy controls were involved in the study. We did not find a significant association of tPA -7351C/T polymorphism and PAI-1 4G/5G polymorphism with stroke. However, in case of I/D polymorphism significant difference was observed in the genotypic distribution and allelic frequency between the stroke patients and healthy controls. DD genotype and D allele associated significantly with stroke (p=0.002 and <0.001 respectively). We also found significant association of I/D polymorphism with intracranial large artery atherosclerosis and stroke of undetermined etiology. Exploring the association between gene-gene interaction (26 combinations including the three variants) and stroke, we found that individuals with CC+4G4G+DD, CC+5G5G+ID, CT+4G5G+ID, CT+5G5G+II, CT+5G5G+ID and TT+4G5G+II had a significantly higher risk of stroke. The results of this study suggest that -7351C/T polymorphism of tPA and 4G/5G polymorphism of PAI-1 are not associated with stroke, while as DD genotype and D allele of tPA gene are important risk factors for ischemic stroke. Further we found that the subjects with different tPA and PAI genotype combinations displayed a significantly high risk for overall ischemic stroke suggesting that gene-gene interaction involving more variants may change the susceptibility of particular subjects to the disease.

Authors+Show Affiliations

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad-500016, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22240314

Citation

Babu, M Sai, et al. "Association of Genetic Variants of Fibrinolytic System With Stroke and Stroke Subtypes." Gene, vol. 495, no. 1, 2012, pp. 76-80.
Babu MS, Prabha TS, Kaul S, et al. Association of genetic variants of fibrinolytic system with stroke and stroke subtypes. Gene. 2012;495(1):76-80.
Babu, M. S., Prabha, T. S., Kaul, S., Al-Hazzani, A., Shafi, G., Roy, S., Balakrishna, N., Jyothy, A., & Munshi, A. (2012). Association of genetic variants of fibrinolytic system with stroke and stroke subtypes. Gene, 495(1), 76-80. https://doi.org/10.1016/j.gene.2011.12.046
Babu MS, et al. Association of Genetic Variants of Fibrinolytic System With Stroke and Stroke Subtypes. Gene. 2012 Mar 1;495(1):76-80. PubMed PMID: 22240314.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of genetic variants of fibrinolytic system with stroke and stroke subtypes. AU - Babu,M Sai, AU - Prabha,T Surya, AU - Kaul,Subhash, AU - Al-Hazzani,Amal, AU - Shafi,Gowhar, AU - Roy,Sitara, AU - Balakrishna,N, AU - Jyothy,A, AU - Munshi,Anjana, Y1 - 2012/01/05/ PY - 2011/10/17/received PY - 2011/12/13/revised PY - 2011/12/23/accepted PY - 2012/1/14/entrez PY - 2012/1/14/pubmed PY - 2012/3/29/medline SP - 76 EP - 80 JF - Gene JO - Gene VL - 495 IS - 1 N2 - Genetic variants of tPA (PLAT) and PAI-1 genes have been suggested to be the risk factors for stroke. In the present case-control study we investigated the association of -7351C/T polymorphism (rs2020918) and I/D polymorphism of tPA gene and Insertion/deletion polymorphism (4G/5G) of PAI-1 gene with genetic predisposition to ischemic stroke. 516 stroke patients and 513, sex and age matched healthy controls were involved in the study. We did not find a significant association of tPA -7351C/T polymorphism and PAI-1 4G/5G polymorphism with stroke. However, in case of I/D polymorphism significant difference was observed in the genotypic distribution and allelic frequency between the stroke patients and healthy controls. DD genotype and D allele associated significantly with stroke (p=0.002 and <0.001 respectively). We also found significant association of I/D polymorphism with intracranial large artery atherosclerosis and stroke of undetermined etiology. Exploring the association between gene-gene interaction (26 combinations including the three variants) and stroke, we found that individuals with CC+4G4G+DD, CC+5G5G+ID, CT+4G5G+ID, CT+5G5G+II, CT+5G5G+ID and TT+4G5G+II had a significantly higher risk of stroke. The results of this study suggest that -7351C/T polymorphism of tPA and 4G/5G polymorphism of PAI-1 are not associated with stroke, while as DD genotype and D allele of tPA gene are important risk factors for ischemic stroke. Further we found that the subjects with different tPA and PAI genotype combinations displayed a significantly high risk for overall ischemic stroke suggesting that gene-gene interaction involving more variants may change the susceptibility of particular subjects to the disease. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/22240314/Association_of_genetic_variants_of_fibrinolytic_system_with_stroke_and_stroke_subtypes_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(11)00830-4 DB - PRIME DP - Unbound Medicine ER -