Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2026
Association between PTEN-induced kinase 1 (PINK1) rs3738136 polymorphism and Parkinson's disease: A meta-analytic study.
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Shibi Anilkumar Anu, Thomas Sheena Mariam, Veerabathiran Ramakrishnan
Аннотация
BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disorder impacting motor and non-motor functions. The Phosphatase and Tensin Homolog (PTEN)-induced putative kinase 1 (PINK1) gene, particularly the rs3738136 (Ala340Thr) polymorphism, is a potential genetic risk factor.
PURPOSE: This meta-analysis investigated the association between rs3738136 (Ala340Thr) polymorphism and PD risk.
STUDY TYPE: This study type follows meta-analysis.
POPULATION: Nine studies (1613 PD cases, 2126 controls) were included following PRISMA guidelines.Assessment techniques:This study employed rigorous quality assessment using the Newcastle-Ottawa Scale (NOS) and Hardy-Weinberg equilibrium (HWE) checks. Gene ontology and protein-protein interaction (PPI) network analyses were also performed.
STATISTICAL TESTS: Meta-analyses employed fixed and random-effects models across various genetic models (allelic, dominant, recessive, and overdominant). Sensitivity analyses addressed publication bias and HWE deviations. Power analysis was conducted to assess the study's ability to detect effects.
RESULTS: No statistically significant association was found between the rs3738136 polymorphism and PD risk (p > 0.05 for all models). Sensitivity analyses confirmed the robustness of these findings. The power analysis indicated statistical power (>0.8). However, meta-regression revealed high unexplained heterogeneity across studies.
DATA CONCLUSION: This meta-analysis provides a high-powered and functionally integrated investigation into the rs3738136 polymorphism of the PINK1 gene. Although the findings do not support a direct association with PD susceptibility, our results contribute to clarifying prior conflicting evidence and suggest that this variant is likely functionally neutral. Future studies should explore multi-locus interactions and gene-environment models to better capture the genetic complexity of PD.
PURPOSE: This meta-analysis investigated the association between rs3738136 (Ala340Thr) polymorphism and PD risk.
STUDY TYPE: This study type follows meta-analysis.
POPULATION: Nine studies (1613 PD cases, 2126 controls) were included following PRISMA guidelines.Assessment techniques:This study employed rigorous quality assessment using the Newcastle-Ottawa Scale (NOS) and Hardy-Weinberg equilibrium (HWE) checks. Gene ontology and protein-protein interaction (PPI) network analyses were also performed.
STATISTICAL TESTS: Meta-analyses employed fixed and random-effects models across various genetic models (allelic, dominant, recessive, and overdominant). Sensitivity analyses addressed publication bias and HWE deviations. Power analysis was conducted to assess the study's ability to detect effects.
RESULTS: No statistically significant association was found between the rs3738136 polymorphism and PD risk (p > 0.05 for all models). Sensitivity analyses confirmed the robustness of these findings. The power analysis indicated statistical power (>0.8). However, meta-regression revealed high unexplained heterogeneity across studies.
DATA CONCLUSION: This meta-analysis provides a high-powered and functionally integrated investigation into the rs3738136 polymorphism of the PINK1 gene. Although the findings do not support a direct association with PD susceptibility, our results contribute to clarifying prior conflicting evidence and suggest that this variant is likely functionally neutral. Future studies should explore multi-locus interactions and gene-environment models to better capture the genetic complexity of PD.