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A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans

PURPOSE: Lysyl oxidase (LOX) controls the cross-linking and maturation of elastin and collagen fibers. In this study, we investigated the association between LOX gene polymorphisms and intracranial aneurysm (IA) formation in a homogeneous Korean population. MATERIALS AND METHODS: This cross-sectiona...

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Autores principales: Hong, Eun Pyo, Jeon, Jin Pyeong, Kim, Sung-Eun, Yang, Jin Seo, Choi, Hyuk Jai, Kang, Suk Hyung, Cho, Yong Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552627/
https://www.ncbi.nlm.nih.gov/pubmed/28792146
http://dx.doi.org/10.3349/ymj.2017.58.5.1006
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author Hong, Eun Pyo
Jeon, Jin Pyeong
Kim, Sung-Eun
Yang, Jin Seo
Choi, Hyuk Jai
Kang, Suk Hyung
Cho, Yong Jun
author_facet Hong, Eun Pyo
Jeon, Jin Pyeong
Kim, Sung-Eun
Yang, Jin Seo
Choi, Hyuk Jai
Kang, Suk Hyung
Cho, Yong Jun
author_sort Hong, Eun Pyo
collection PubMed
description PURPOSE: Lysyl oxidase (LOX) controls the cross-linking and maturation of elastin and collagen fibers. In this study, we investigated the association between LOX gene polymorphisms and intracranial aneurysm (IA) formation in a homogeneous Korean population. MATERIALS AND METHODS: This cross-sectional study involved 80 age-sex matched patients with IA and controls. Fisher's exact test was performed to analyze allelic associations between ten single nucleotide polymorphisms (SNPs) and IA, including 41 ruptured and 39 unruptured cases. Haplotype-specific associations were analyzed using the omnibus test estimating asymptotic chi-square statistics. RESULTS: Of ten SNPs, three SNPs (rs2303656, rs3900446, and rs763497) were significantly associated with IA (p<0.01). The C allele of rs3900446 was significantly related to increased IA risk with a significant threshold [odds ratio (OR)=20.15, p=4.8×10(−5)]. Meanwhile, the A allele of rs2303656 showed a preventive effect against IA formation (p=8.2×10(−4)). Seventeen of 247 haplotype structures showed a suggestive association with IA (asymptotic p<0.001). Of ten SNP haplotype combinations, the CG combination of rs3900446 and rs763497 reached Bonferroni-adjusted significant threshold in IA patients (minor haplotype frequency=0.113, asymptotic p=1.3×10(−5)). However, there was no association between aneurysm rupture and the LOX gene. CONCLUSION: This preliminary study indicated that LOX gene polymorphisms, such as rs2303656, rs3900446, and rs763497, may play crucial roles in IA formation in the Korean population. Our novel findings need to be validated in a large-scale independent population.
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spelling pubmed-55526272017-09-01 A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans Hong, Eun Pyo Jeon, Jin Pyeong Kim, Sung-Eun Yang, Jin Seo Choi, Hyuk Jai Kang, Suk Hyung Cho, Yong Jun Yonsei Med J Original Article PURPOSE: Lysyl oxidase (LOX) controls the cross-linking and maturation of elastin and collagen fibers. In this study, we investigated the association between LOX gene polymorphisms and intracranial aneurysm (IA) formation in a homogeneous Korean population. MATERIALS AND METHODS: This cross-sectional study involved 80 age-sex matched patients with IA and controls. Fisher's exact test was performed to analyze allelic associations between ten single nucleotide polymorphisms (SNPs) and IA, including 41 ruptured and 39 unruptured cases. Haplotype-specific associations were analyzed using the omnibus test estimating asymptotic chi-square statistics. RESULTS: Of ten SNPs, three SNPs (rs2303656, rs3900446, and rs763497) were significantly associated with IA (p<0.01). The C allele of rs3900446 was significantly related to increased IA risk with a significant threshold [odds ratio (OR)=20.15, p=4.8×10(−5)]. Meanwhile, the A allele of rs2303656 showed a preventive effect against IA formation (p=8.2×10(−4)). Seventeen of 247 haplotype structures showed a suggestive association with IA (asymptotic p<0.001). Of ten SNP haplotype combinations, the CG combination of rs3900446 and rs763497 reached Bonferroni-adjusted significant threshold in IA patients (minor haplotype frequency=0.113, asymptotic p=1.3×10(−5)). However, there was no association between aneurysm rupture and the LOX gene. CONCLUSION: This preliminary study indicated that LOX gene polymorphisms, such as rs2303656, rs3900446, and rs763497, may play crucial roles in IA formation in the Korean population. Our novel findings need to be validated in a large-scale independent population. Yonsei University College of Medicine 2017-09-01 2017-07-31 /pmc/articles/PMC5552627/ /pubmed/28792146 http://dx.doi.org/10.3349/ymj.2017.58.5.1006 Text en © Copyright: Yonsei University College of Medicine 2017 http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Hong, Eun Pyo
Jeon, Jin Pyeong
Kim, Sung-Eun
Yang, Jin Seo
Choi, Hyuk Jai
Kang, Suk Hyung
Cho, Yong Jun
A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans
title A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans
title_full A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans
title_fullStr A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans
title_full_unstemmed A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans
title_short A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans
title_sort novel association between lysyl oxidase gene polymorphism and intracranial aneurysm in koreans
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552627/
https://www.ncbi.nlm.nih.gov/pubmed/28792146
http://dx.doi.org/10.3349/ymj.2017.58.5.1006
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