Evidence map›Paper›PMID 41505438›Full record

ArticlePloS one2026

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Xinyue Deng, Xue Yan, Zhi Song, Wen Zheng, Hongbo Xu, Yan Yang, Jiangang Wang, Lamei Yuan, Hao Deng

Abstract read
In one paragraph

Article in PloS one, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Xinyue DengHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, China.
Xue YanHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, China.
Zhi SongDepartment of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
Wen ZhengDepartment of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
Hongbo XuCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Yan YangDepartment of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
Jiangang WangHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, China.
Lamei YuanHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, China.
Hao DengHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, China.ORCID https://orcid.org/0000-0003-3240-4352

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder, with variants in the leucine rich repeat kinase 2 gene (LRRK2) being frequent genetic causes of inherited PD. This study aimed to screen for LRRK2 variants and assess their effects on PD susceptibility in the Han Chinese population. LRRK2 variants were identified through whole exome sequencing and confirmed by Sanger sequencing in 468 unrelated PD patients and 566 controls. The identified variants were analyzed via bioinformatics predictions and statistical analyses, by interpreting existing literature and database evidence. Twelve variants were detected, including p.A419V, p.P755L, p.I786F, p.C925Y, p.M968K, p.R1067Q, p.R1320S, p.I1339M, p.P1446L, p.D1756Y, p.H2206Y, and p.G2385R. Among participants, 14.74% of PD cases and 7.24% of controls carried at least one LRRK2 variant (odds ratio [OR]: 2.2144, 95% confidence interval [CI]: 1.4728-3.3294, P = 0.0001). The residues p.P755, p.R1067, p.R1320, p.P1446, and p.D1756 are comparatively conserved. The variants p.R1067Q and p.D1756Y, absent in controls, were predicted to be damaging. Compared to controls, PD patients had higher frequencies of p.A419V (OR: 4.2820, 95% CI: 1.4047-13.0530, P = 0.0054, corrected P = 0.0324) and p.G2385R (OR: 2.1149, 95% CI: 1.2682-3.5268, P = 0.0034, corrected P = 0.0324). These findings suggest that the LRRK2 variants, p.R1067Q and p.D1756Y, may act as likely pathogenic variants in PD, while p.A419V and p.G2385R might be risk factors for increased PD susceptibility in the Han Chinese population.

Indexed as

East Asian PeopleGenetic Predisposition to DiseaseLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Parkinson DiseaseAgedCase-Control StudiesChinaFemaleHumansMaleMiddle AgedPolymorphism, Single NucleotideLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, human

Identifiers

PMID41505438
PMCPMC12782381

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.