Exome and regulatory element sequencing of neuromyelitis optica patients

@article{Siuko2015ExomeAR,
  title={Exome and regulatory element sequencing of neuromyelitis optica patients},
  author={Mika Siuko and M. Valori and T. Kivel{\"a} and K. Set{\"a}l{\"a} and Andreanne Morin and T. Kwan and T. Pastinen and P. Tienari},
  journal={Journal of Neuroimmunology},
  year={2015},
  volume={289},
  pages={139-142}
}
Neuromyelitis optica (NMO) is rare in Finland. To identify rare genetic variants contributing to NMO risk we performed whole exome, HLA and regulatory region sequencing in all ascertained cases during 2005-2013 (n=5) in a Southern Finnish population of 1.6 million. There were no rare variant shared by all patients. Four missense variants were shared by two patients in C3ORF20, PDZD2, C5ORF47 and ZNF606. Another PDZD2 variant was found in a third patient. In the non-coding sequence two… Expand
Whole‐exome sequencing reveals the major genetic factors contributing to neuromyelitis optica spectrum disorder in Chinese patients with aquaporin 4‐IgG seropositivity
TLDR
The aim of the present study was to identify the major genetic factors contributing to NMOSD in Chinese patients with aquaporin 4 (AQP4)‐IgG seropositivity. Expand
Mutation of the cellular adhesion molecule NECL2 is associated with neuromyelitis optica spectrum disorder
  • Yan Xu, L. Li, +5 authors L. Cui
  • Medicine, Biology
  • Journal of the Neurological Sciences
  • 2018
TLDR
The results suggest that the Necl2 mutation identified herein may be associated with the risk of developing NMOSD and mutated NECL2 may play a role in the pathogenesis of the disease, potentially through its roles in axonal regeneration and/or via neuron-glia interactions that are relevant to myelination. Expand
Incidence and Mimickers of Acute Idiopathic Optic Neuritis: Analysis of 291 Consecutive Patients from Southern Finland
TLDR
The use of MRI is recommended to improve the differential diagnostic accuracy of ON and to identify patients with high risk of MS, as demyelinative lesions on MRI indicated higher risk of developing MS. Expand

References

SHOWING 1-10 OF 14 REFERENCES
Genetic analysis of aquaporin-4 in neuromyelitis optica
TLDR
Except for one uncommon SNP, no tested SNP was associated with NMO, nor were 3 SNP haplotypes, providing no support for the hypothesis that genetic variation in AQP4 accounts for overall susceptibility to NMO. Expand
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
TLDR
The data suggest the presence of a founder mutation for chromosome 9p21-linked ALS in the Finnish population, and the overlap with the risk haplotype recently reported for frontotemporal dementia provides further evidence of a shared genetic cause for these two neurodegenerative diseases. Expand
Neuromyelitis optica (Devic's syndrome).
TLDR
Several treatments used to prevent attacks of multiple sclerosis are ineffective in this condition; effective immunotherapies include azathioprine, mycophenolate mofetil and rituximab. Expand
Neuromyelitis optica and aquaporin‐4 (AQP4) autoantibodies in consecutive optic neuritis patients in Southern Finland
TLDR
The frequency of neuromyelitis optica (NMO) among consecutive optic neuritis patients in Southern Finland is analyzed and the feasibility of Aquaporin‐4 (AQP4) autoantibody assay in the diagnosis of NMO is studied. Expand
Association of the HLA-DPB1*0501 allele with anti-aquaporin-4 antibody positivity in Japanese patients with idiopathic central nervous system demyelinating disorders.
TLDR
The findings suggest that the emergence of anti-AQP4 antibody is reinforced by the presence of the HLA-DPB1*0501 allele in Japanese. Expand
HLA-DPB1*0501 is associated with susceptibility to anti-aquaporin-4 antibodies positive neuromyelitis optica in Southern Han Chinese
TLDR
DPB1 0501 correlates with risk of AQP4-Ab positive NMO in Southern Han Chinese and is significant higher in NMO patients than in C-MS. Expand
Finnish Disease Heritage II: population prehistory and genetic roots of Finns
  • R. Norio
  • Medicine, Biology
  • Human Genetics
  • 2003
TLDR
The settling of Finland, the genes of the Finns today, characterizing FDH, the east-west difference among Finns, and minorities in Finland, viz. the Lapps or Saami and Swedish-speaking Finns are discussed. Expand
Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads
TLDR
A new algorithm named PHLAT is developed to discover the most probable pair of HLA alleles at four-digit resolution or higher, via a unique integration of a candidate allele selection and a likelihood scoring, outcompeting most of the existing methods. Expand
Increasing Incidence in Relapsing-Remitting MS and High Rates among Young Women in Finland: A Thirty-Year Follow-Up
Object. Gender and disease course specific incidences were studied in high- and medium-risk regions of MS in Finland. Methods. Age- and gender-specific incidences with 95% CIs were calculated inExpand
A general framework for estimating the relative pathogenicity of human genetic variants
TLDR
The ability of CADD to prioritize functional, deleterious and pathogenic variants across many functional categories, effect sizes and genetic architectures is unmatched by any current single-annotation method. Expand
...
1
2
...