Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.

Scientific Reports
Hiroki HongoNobuhito Saito

Abstract

Intracranial artery stenosis (ICAS) is the most common cause of ischemic stroke worldwide. RNF213 single nucleotide variant c.14429G > A (p.Arg4810Lys, rs112735431) was recently reported to be associated with ICAS in East Asians. However, the disease susceptibility of other RNF213 variants has not been clarified. This study comprehensively investigated ICAS-associated RNF213 variants in a pool of 168 Japanese ICAS patients and 1,194 control subjects. We found 138 nonsynonymous germline variants by target resequencing of all coding exons in RNF213. Association study between ICAS patients and control subjects revealed that only p.Arg4810Lys had significant association with ICAS (P = 1.5 × 10-28, odds ratio = 29.3, 95% confidence interval 15.31-56.2 [dominant model]). Fourteen of 138 variants were rare variants detected in ICAS patients not harboring p.Arg4810Lys variant. Two of these rare variants (p.Cys118Arg and p.Leu2356Phe) consistent with variants previously reported in moyamoya disease patients characterized by stenosis of intracranial artery and association with RNF213, and three rare variants (p.Ser193Gly, p.Val1817Leu, and p.Asp3329Tyr) were found neither in control subjects and Single Nucleotide Polymorphism Database. T...Continue Reading

References

May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Nov 5, 2010·Journal of Human Genetics·Fumiaki KamadaShigeo Kure
Sep 9, 2011·The New England Journal of Medicine·Marc I ChimowitzUNKNOWN SAMMPRIS Trial Investigators
Sep 27, 2012·Stroke; a Journal of Cerebral Circulation·Satoru MiyawakiNobuhito Saito
Aug 24, 2013·Stroke; a Journal of Cerebral Circulation·Satoru MiyawakiNobuhito Saito
Sep 7, 2013·Lancet·Adnan I Qureshi, Louis R Caplan
Oct 19, 2013·Lancet Neurology·Christine A HolmstedtMarc I Chimowitz
Apr 18, 2014·Journal of Stroke·Oh Young Bang
Jun 20, 2014·World Journal of Clinical Cases·Bik Ling Man, Yat Pang Fu
Jul 30, 2014·Frontiers in Neurology·Yuehua PuLiping Liu
Oct 4, 2014·Stroke; a Journal of Cerebral Circulation·Alana C CecchiDianna M Milewicz
Oct 15, 2014·Circulation·Katja RitzMat J A P Daemen
Jan 28, 2015·Methodist DeBakey Cardiovascular Journal·Joshua W Osbun, Louis J Kim
May 10, 2015·Journal of the Neurological Sciences·Ming-Jen LeeMeng-Fai Kuo
May 13, 2015·Journal of the American Heart Association·Yosuke MotekiHiroyuki Akagawa
Jul 23, 2015·American Journal of Medical Genetics. Part a·Tamar HarelJohn W Belmont
Oct 7, 2015·Journal of Stroke·Young Jun ChoiDeok Hee Lee
Nov 5, 2015·G3 : Genes - Genomes - Genetics·Lorelei D ShoemakerGary K Steinberg
Dec 15, 2015·Environmental Health and Preventive Medicine·Akio KoizumiShohab Youssefian
Oct 14, 2016·PloS One·Hatasu KobayashiAkio Koizumi
Oct 18, 2016·American Journal of Human Genetics·Sirui ZhouGuy A Rouleau
May 26, 2017·European Journal of Human Genetics : EJHG·Henne HolstegePhilip Scheltens
Jun 22, 2017·European Journal of Human Genetics : EJHG·Stéphanie GueyUNKNOWN FREX consortium
Feb 2, 2018·Human Genome Variation·Hiroyuki AkagawaHidetoshi Kasuya
Dec 19, 2018·Circulation. Genomic and Precision Medicine·Hisato SuzukiKenjiro Kosaki

❮ Previous
Next ❯

Citations

Mar 17, 2021·Critical Reviews in Food Science and Nutrition·Geir BjørklundBeatrice Severin

❮ Previous
Next ❯

Datasets Mentioned

BETA
JGAS00000000175

Software Mentioned

Burrows
SAMtools
HumVar
JMP
CADD
Wheeler Aligner

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.