Next Article in Journal
Diverse Action of Selected Statins on Skeletal Muscle Cells—An Attempt to Explain the Protective Effect of Geranylgeraniol (GGOH) in Statin-Associated Myopathy (SAM)
Previous Article in Journal
Phosphoproteins Involved in the Inhibition of Apoptosis and in Cell Survival in the Leiomyoma
Article Menu
Issue 5 (May) cover image

Export Article

Open AccessArticle

Genome-Wide Association between the 2q33.1 Locus and Intracranial Aneurysm Susceptibility: An Updated Meta-Analysis Including 18,019 Individuals

1
Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
2
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
3
Institute of New Frontier Stroke Research, Hallym University College of Medicine, Chuncheon 24252, Korea
4
Department of Neurosurgery, Hallym University College of Medicine, Chuncheon 24252, Korea
5
Genetic and Research Inc., Chuncheon 24252, Korea
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(5), 692; https://doi.org/10.3390/jcm8050692
Received: 10 April 2019 / Revised: 2 May 2019 / Accepted: 15 May 2019 / Published: 16 May 2019
(This article belongs to the Section Neuroscience)
  |  
PDF [1956 KB, uploaded 16 May 2019]
  |     |  

Abstract

Previous genome-wide association studies did not show a consistent association between the BOLL gene (rs700651, 2q33.1) and intracranial aneurysm (IA) susceptibility. We aimed to perform an updated meta-analysis for the potential IA-susceptibility locus in large-scale multi-ethnic populations. We conducted a systematic review of studies identified by an electronic search from January 1990 to March 2019. The overall estimates of the “G” allele of rs700651, indicating IA susceptibility, were calculated under the fixed- and random-effect models using the inverse-variance method. Subsequent in silico function and cis-expression quantitative trait loci (cis-eQTL) analyses were performed to evaluate biological functions and genotype-specific expressions in human tissues. We included 4513 IA patients and 13,506 controls from five studies with seven independent populations: three European-ancestry, three Japanese, and one Korean population. The overall result showed a genome-wide significance threshold between rs700651 and IA susceptibility after controlling for study heterogeneity (OR = 1.213, 95% CI: 1.135–1.296). Subsequent cis-eQTL analysis showed significant genome-wide expressions in three human tissues, i.e., testis (p = 8.04 × 10−15 for ANKRD44), tibial nerves (p = 3.18 × 10−10 for SF3B1), and thyroid glands (p = 4.61 × 10−9 for SF3B1). The rs700651 common variant of the 2q33.1 region may be involved in genetic mechanisms that increase the risk of IA and may play crucial roles in regulatory functions. View Full-Text
Keywords: 2q33.1; intracranial aneurysm; multi-ethnic meta-analysis; subarachnoid hemorrhage 2q33.1; intracranial aneurysm; multi-ethnic meta-analysis; subarachnoid hemorrhage
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Supplementary material

SciFeed

Share & Cite This Article

MDPI and ACS Style

Hong, E.P.; Kim, B.J.; Jeon, J.P. Genome-Wide Association between the 2q33.1 Locus and Intracranial Aneurysm Susceptibility: An Updated Meta-Analysis Including 18,019 Individuals. J. Clin. Med. 2019, 8, 692.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
J. Clin. Med. EISSN 2077-0383 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top