A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.

@article{Iida2011AFV,
  title={A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.},
  author={Aritoshi Iida and Atsushi Takahashi and Michiaki Kubo and Susumu Saito and Naoya Hosono and Yozo Ohnishi and Kazuma Kiyotani and Taisei Mushiroda and Masahiro Nakajima and Kouichi Ozaki and Toshihiro Tanaka and Tatsuhiko Tsunoda and Shuichi Oshima and Motoki Sano and Tetsumasa Kamei and Torao Tokuda and Masashi Aoki and Kazuko Hasegawa and Koichi Mizoguchi and Mitsuya Morita and Yuji Takahashi and Masahisa Katsuno and Naoki Atsuta and Hirohisa Watanabe and Fumiaki Tanaka and Ryuji Kaji and Imaharu Nakano and Naoyuki Kamatani and Shoji Tsuji and Gen Sobue and Yusuke Nakamura and Shiro Ikegawa},
  journal={Human molecular genetics},
  year={2011},
  volume={20 18},
  pages={
          3684-92
        }
}
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the selective loss of motor neurons. Several susceptibility genes for ALS have been reported; however, ALS etiology and pathogenesis remain largely unknown. To identify further ALS-susceptibility genes, we conducted a large-scale case-control association study using gene-based tag single-nucleotide polymorphisms (SNPs). A functional SNP (rs2275294) was found to be significantly associated with ALS through a… 

Figures and Tables from this paper

ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis
The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs
TLDR
The genetic basis of ALS is discussed, and the causal genes to three highly interrelated pathogenic mechanisms: dysproteostasis, RNA dysregulation, and axon dysfunction are linked.
Difficulty in determining the association of a single nucleotide polymorphism in the ZNF512B gene with the risk and prognosis of amyotrophic lateral sclerosis.
  • S. Tetsuka
  • Biology
    Rinsho shinkeigaku = Clinical neurology
  • 2017
TLDR
The factors that are likely responsible for the inconsistent results obtained by genome-wide association studies are evaluated and the development of a new classification system and diagnostic criteria for ALS is proposed as the first step towards conducting better clinical studies on ALS.
Genetics of amyotrophic lateral sclerosis in the Han Chinese
TLDR
In the light of the paucity of comprehensive genetic studies performed in Chinese, the presented study focused on advancing the current understanding in genetics of ALS in the Han Chinese population.
The Analysis of Two BDNF Polymorphisms G196A/C270T in Chinese Sporadic Amyotrophic Lateral Sclerosis
TLDR
These data provide the first demonstration that the BDNF C270T polymorphism may be a candidate susceptibility locus for sALS, at least in Han Chinese, and it is demonstrated that the frequency of the CT genotype and of the C 270T T allele was significantly higher in the ALS group than in controls.
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
TLDR
The development of gene therapy based on the elucidation of disease-modifying genes and early intervention in molecular pathology is expected to become an important therapeutic strategy in ALS.
Amyotrophic Lateral Sclerosis Genetic Studies
TLDR
The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease.
Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions
TLDR
A substantial number of genes displayed significant expression changes in tissue types or disease states, were implicated in distinct splicing complexes and showed different topological hierarchical roles based on protein–protein interactions.
Lack of association between the P413L variant of chromogranin B and ALS risk or age at onset: a meta-analysis
TLDR
The available evidence suggests that the P413L variant of chromogranin B is not associated with ALS risk or age at ALS onset, and should be validated in large, well-designed studies.
...
...

References

SHOWING 1-10 OF 73 REFERENCES
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
TLDR
The findings of this GWAS suggest that ALS is more genetically and clinically heterogeneous than previously recognized.
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.
TLDR
The aim of this study is to investigate the variant rs12608932 located in the unc-13 homologue A gene (UNC13A) as a possible risk factor for developing ALS in a French population.
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
TLDR
Findings support the view that genetic factors modify phenotypes in this disease and that cellular motor proteins are determinants of motor neuron viability.
Whole-genome analysis of sporadic amyotrophic lateral sclerosis.
TLDR
Variants of FLJ10986 may confer susceptibility to sporadic ALS and 50 other candidate loci warrant further investigation for their potential role in conferring susceptibility to the disease.
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
TLDR
Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
We report a unique mutation in the D-amino acid oxidase gene (R199W DAO) associated with classical adult onset familial amyotrophic lateral sclerosis (FALS) in a three generational FALS kindred,
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
TLDR
This work has identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis in different populations of European ancestry and may be a target for future functional studies.
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis
TLDR
The finding that CHGB may act as a susceptibility gene and modifier of onset in ALS is consistent with the emerging view that dysfunction of the secretory pathway may contribute to increased vulnerability of motor neurons.
...
...