Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis

Neurol Sci. 2021 Feb;42(2):625-631. doi: 10.1007/s10072-020-04579-z. Epub 2020 Jul 10.


Background: Amyotrophic lateral sclerosis (ALS), one of the motor neuron diseases, appears to be caused by genetic and environmental risk factors. However, the influence of Pro34Ser variant of CHCHD10 gene in increasing risk of ALS remains indeterminate. This study conducted a meta-analysis to establish the association between Pro34Ser variant of CHCHD10 gene and risk of ALS.

Methods: PubMed, Web of Science, and Embase databases were systematically searched for genome-wide association studies or case-control studies published up to March 28, 2020, on the association between Pro34Ser variant and risk of ALS. Data from eligible studies were extracted and analyzed.

Results: Twelve case-control studies involving 7442 patients with sporadic ALS and 75,371 controls were analyzed. The Pro34Ser variant was not associated with increased risk of ALS disease based on fixed-effects meta-analysis (Pro34Ser-positive vs Pro34Ser-negative: OR 1.23, 95% CI 0.90 to 1.69, P = 0.201).

Conclusion: Existing evidence suggests that Pro34Ser variant in CHCHD10 is not associated with risk of ALS, particularly in Caucasian participants. However, our results ought to be validated using large, well-designed studies, especially in Asian and African populations.

Keywords: Amyotrophic lateral sclerosis; CHCHD10; Meta-analysis; Pro34Ser; Variant.

Publication types

  • Meta-Analysis

MeSH terms

  • Amyotrophic Lateral Sclerosis* / epidemiology
  • Amyotrophic Lateral Sclerosis* / genetics
  • Asian People
  • Case-Control Studies
  • Genome-Wide Association Study
  • Humans
  • Mitochondrial Proteins / genetics
  • White People


  • CHCHD10 protein, human
  • Mitochondrial Proteins