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Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population

BACKGROUND: The rupture of a brain aneurysm causes bleeding in the subarachnoid space and is known as aneurysmal subarachnoid haemorrhage (aSAH). In our study, we evaluated the association of factor XIII polymorphism and the risk of Aneurysmal subarachnoid haemorrhage (aSAH) in South Indian populati...

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Autores principales: Suvatha, Arati, Sibin, M. K., Bhat, Dhananjaya I., Narasingarao, K. V. L., Vazhayil, Vikas, Chetan, G. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126001/
https://www.ncbi.nlm.nih.gov/pubmed/30185149
http://dx.doi.org/10.1186/s12881-018-0674-x
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author Suvatha, Arati
Sibin, M. K.
Bhat, Dhananjaya I.
Narasingarao, K. V. L.
Vazhayil, Vikas
Chetan, G. K.
author_facet Suvatha, Arati
Sibin, M. K.
Bhat, Dhananjaya I.
Narasingarao, K. V. L.
Vazhayil, Vikas
Chetan, G. K.
author_sort Suvatha, Arati
collection PubMed
description BACKGROUND: The rupture of a brain aneurysm causes bleeding in the subarachnoid space and is known as aneurysmal subarachnoid haemorrhage (aSAH). In our study, we evaluated the association of factor XIII polymorphism and the risk of Aneurysmal subarachnoid haemorrhage (aSAH) in South Indian population. METHODS: The study was performed in 200 subjects with aSAH and 205 healthy control subjects. Genotyping of rs5985(c.103G > T (p.Val35Leu)) and rs5982(c.1694C > T (p.Pro564Leu)) polymorphism was performed by Taqman® allelic discrimination assay. RESULTS: In our study, Val/Leu genotype frequency was higher in control subjects (18%) compared to aSAH patients (9%).The Val/Leu genotype was associated with lower risk of aSAH (OR = 0.48, 95%CI = 0.26–0.88, p = 0.02). When compared with Val allele, Leu allele was significantly associated with lower risk of aSAH (OR = 0.55, 95%CI = 0.32–0.95, p = 0.03). In subtyping, we found a significant association of Leu/Leu genotype with the Basilar top aneurysm (OR = 3.59, 95%CI = 1.11–11.64, p = 0.03). In c.1694C > T (p.Pro565Leu) variant, Pro/Pro Vs Pro/Leu genotype (OR = 2.06, 95%CI = 1.10–3.85, p = 0.02) was significantly associated with higher risk of aSAH. The 564Leu allelic frequency in aSAH patients (36%) was higher when compared with that in healthy controls (30%) in our study. When allele frequency (Pro Vs Leu) was compared, 564Leu allele was found to be significantly associated with higher aSAH risk (OR = 1.36, 95%CI = 1.01–1.83, p = 0.04). (OR = 1.36, 95%CI = 1.01–1.83, p = 0.04). Regarding rs5985 and rs5982, significant association was found in the log-additive model (OR = 0.57, 95%CI = 0.33–0.97, p = 0.034; OR = 1.32, 95%CI = 1.00–1.72, p = 0.043). CONCLUSION: These results suggest that 34Leu allele was a protective factor for lower risk of aSAH whereas 564Leu allele was associated with higher risk of aSAH in South Indian population. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12881-018-0674-x) contains supplementary material, which is available to authorized users.
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spelling pubmed-61260012018-09-10 Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population Suvatha, Arati Sibin, M. K. Bhat, Dhananjaya I. Narasingarao, K. V. L. Vazhayil, Vikas Chetan, G. K. BMC Med Genet Research Article BACKGROUND: The rupture of a brain aneurysm causes bleeding in the subarachnoid space and is known as aneurysmal subarachnoid haemorrhage (aSAH). In our study, we evaluated the association of factor XIII polymorphism and the risk of Aneurysmal subarachnoid haemorrhage (aSAH) in South Indian population. METHODS: The study was performed in 200 subjects with aSAH and 205 healthy control subjects. Genotyping of rs5985(c.103G > T (p.Val35Leu)) and rs5982(c.1694C > T (p.Pro564Leu)) polymorphism was performed by Taqman® allelic discrimination assay. RESULTS: In our study, Val/Leu genotype frequency was higher in control subjects (18%) compared to aSAH patients (9%).The Val/Leu genotype was associated with lower risk of aSAH (OR = 0.48, 95%CI = 0.26–0.88, p = 0.02). When compared with Val allele, Leu allele was significantly associated with lower risk of aSAH (OR = 0.55, 95%CI = 0.32–0.95, p = 0.03). In subtyping, we found a significant association of Leu/Leu genotype with the Basilar top aneurysm (OR = 3.59, 95%CI = 1.11–11.64, p = 0.03). In c.1694C > T (p.Pro565Leu) variant, Pro/Pro Vs Pro/Leu genotype (OR = 2.06, 95%CI = 1.10–3.85, p = 0.02) was significantly associated with higher risk of aSAH. The 564Leu allelic frequency in aSAH patients (36%) was higher when compared with that in healthy controls (30%) in our study. When allele frequency (Pro Vs Leu) was compared, 564Leu allele was found to be significantly associated with higher aSAH risk (OR = 1.36, 95%CI = 1.01–1.83, p = 0.04). (OR = 1.36, 95%CI = 1.01–1.83, p = 0.04). Regarding rs5985 and rs5982, significant association was found in the log-additive model (OR = 0.57, 95%CI = 0.33–0.97, p = 0.034; OR = 1.32, 95%CI = 1.00–1.72, p = 0.043). CONCLUSION: These results suggest that 34Leu allele was a protective factor for lower risk of aSAH whereas 564Leu allele was associated with higher risk of aSAH in South Indian population. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12881-018-0674-x) contains supplementary material, which is available to authorized users. BioMed Central 2018-09-05 /pmc/articles/PMC6126001/ /pubmed/30185149 http://dx.doi.org/10.1186/s12881-018-0674-x Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Suvatha, Arati
Sibin, M. K.
Bhat, Dhananjaya I.
Narasingarao, K. V. L.
Vazhayil, Vikas
Chetan, G. K.
Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population
title Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population
title_full Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population
title_fullStr Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population
title_full_unstemmed Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population
title_short Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population
title_sort factor xiii polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south indian population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126001/
https://www.ncbi.nlm.nih.gov/pubmed/30185149
http://dx.doi.org/10.1186/s12881-018-0674-x
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