Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

@article{Zou2017GeneticEO,
  title={Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis},
  author={Zhang-Yu Zou and Zhi-rui Zhou and Chun-Hui Che and Changyun Liu and Raoli He and Huapin Huang},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  year={2017},
  volume={88},
  pages={540 - 549}
}
Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a meta-analysis to determine the mutation frequencies of these major ALS-related genes in patients with ALS. Methods We performed an extensive literature research to identify all original articles reporting frequencies of C9orf72, SOD1, TARDBP and FUS mutations in ALS. The mutation frequency and effect size of each study were… 

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References

SHOWING 1-10 OF 53 REFERENCES

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

An extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients found that these patients share a large risk haplotype across the TARDBP locus, indicating that they have a common ancestor.

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

A considerable proportion of patients with SALS harbored mutations in major ALS genes, which raises the hypothesis that multiple mutations model may explain genetic architecture of SALS.

The distinctive genetic architecture of ALS in mainland China

An extensive review of the literature was performed to determine the mutation frequencies of major ALS-related genes in mainland China, and the burden of mutations across SOD1, ANG, TARDBP, FUS and C9orf72 within mainland Chinese was compared to that within Caucasian populations.

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

Evidence is provided that frequency of mutations in currently known ALS genes varies widely among different FALS categories, and families with only two affected relatives have heterogeneous genetic components, the chance to detect mutations being higher in cases with parent-to-child transmission.

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Evidence for an oligogenic aetiology of ALS is provided and may have important implications for the interpretation of whole exome/genome experiments designed to identify new ALS-associated genes and for genetic counselling, especially of unaffected family members.

Prevalence of SOD1 mutations in the Italian ALS population

The frequency of familial amyotrophic lateral sclerosis (FALS) was lower than that reported in series from ALS referral centers, and the frequency of SOD1 mutations in FALS was similar to the data reported in the literature.

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

Background Over 100 genes have been implicated in the aetiology of amyotrophic lateral sclerosis (ALS). A detailed understanding of their independent and cumulative contributions to disease burden

Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.

A study of the prevalence of SOD1 mutations in an unselected cohort of Scottish ALS patients, with both sporadic and familial patients, found one mutation, ile113thr, seems to be particularly prevalent in the Scottish population.
...