Kuzey Çin Han popülasyonunda CHRNA5 polimorfizmleri ve Parkinson hastalığı arasındaki ilişki: bir vaka kontrol çalışması.

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BackgroundParkinson's disease (PD) is a complex neurodegenerative disorder characterised by the progressive loss of dopaminergic neurons in the substantia nigra, resulting in motor symptoms such as bradykinesia, resting tremor, rigidity, and postural instability.AimThis study investigated the association between two single nucleotide polymorphisms of the nicotinic choline receptors α5 (CHRNA5), and the likelihood of developing PD among individuals from the Northern Han Chinese community.Subjects and methodsA retrospective case-control study included 400 PD patients and 400 age- and sex-matched healthy controls. We detected CHRNA5 variants using polymerase chain reaction-restriction fragment length polymorphism and analysed the data with R(4.2.0).ResultsThe rs680244 TT genotype was associated with an increased risk of PD (OR = 1.801, 95% CI: 1.050-3.089, nominal p = 0.031), with a similar association observed under the recessive model (OR = 1.786, 95% CI: 1.056-3.080, nominal p = 0.033). In the male subgroup (198 PD cases and 220 controls), the T allele was also associated with increased PD risk (OR = 1.356, 95% CI: 1.025-1.854, nominal p = 0.040). However, none of these associations remained statistically significant after multiple testing correction using the Bonferroni method. No statistically significant associations were observed for rs495090 in any of the analyses performed.ConclusionThe CHRNA5 rs680244 T allele showed a suggestive association with sporadic PD susceptibility in the Northern Han Chinese population. However, these findings should be interpreted with caution and require validation in larger cohorts across different ethnic populations and clinical settings, ideally with smoking-related data available.

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