Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population

Background The proline-rich coiled-coil 2A ( PRRC2A ) gene has been reported to underlie risk of various autoimmune diseases. However, no data reveal the risk susceptibility of PRRC2A to neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) so far. Objectives To explore the asso...

Full description

Saved in:
Bibliographic Details
Published in:Journal of neurology 2021-02, Vol.268 (2), p.506-515
Main Authors: Zhang, Juan, Chen, Mei-Jiao, Zhao, Gui-Xian, Li, Hong-Fu, Wu, Lei, Xu, Yong-Feng, Liao, Yajin, Yuan, Zengqiang, Wu, Zhi-Ying
Format: Article
Language:English
Subjects:
Aquaporin 4
Aquaporin 4 - genetics
Autoimmune diseases
China
Gene expression
Genetic diversity
Genotyping
Haplotypes
Humans
Medicine
Medicine & Public Health
Multiple sclerosis
Multiple Sclerosis - genetics
Neurology
Neuromyelitis
Neuromyelitis Optica - genetics
Neuroradiology
Neurosciences
Original Communication
Polymorphism, Single Nucleotide - genetics
Proline
Proteins
Single-nucleotide polymorphism
Susceptibility
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background The proline-rich coiled-coil 2A ( PRRC2A ) gene has been reported to underlie risk of various autoimmune diseases. However, no data reveal the risk susceptibility of PRRC2A to neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) so far. Objectives To explore the association between PRRC2A variants and NMOSD and MS susceptibility in Han Chinese population. Methods Totally, 207 NMOSD (98 AQP4 + and 109 AQP4 − ) patients, 141 MS and 196 healthy controls (HC) were enrolled. Candidate tagging single nucleotide polymorphisms (tag-SNPs) were selected from the 1000G database based on the Chinese data. SNP genotyping was performed using MassArray and Sanger sequencing. Results PRRC2A variants rs2736171, rs2736157, rs2844470 alter susceptibility to AQP4 + NMOSD, while rs2242659 to MS. Genotype AT of rs2844470 and AG of rs2242659 increased risk susceptibility for AQP4 + NMOSD and MS, respectively. AQP4 + NMOSD exhibited a higher frequency of genotype AG of rs2736157 compared with AQP4 − NMOSD. Haplotype TCAAGGTAG was conferred risk susceptibility to AQP4 + NMOSD and haplotype TTAGAGTAG had a protective effect on both AQP4 + and AQP4 − NMOSD. Further, we identified various gene expression levels in disease-related regions that are significantly modulated by three cis-eQTL SNPs rs2736157, rs2736171 and rs2242659 ( p  
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-020-10184-z