Environmental and genetic risk factors for Parkinson’s disease
Aim. To analyze risk factors in the group of patients with Parkinson’s disease (PD) and compare them with the literature data.Materials and methods. The study included 439 patients with PD and 354 controls, comparable by gender and age. For each individual, a registration card was filled in containi...
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Siberian State Medical University (Tomsk)
2023-01-01
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| Series: | Бюллетень сибирской медицины |
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| Online Access: | https://bulletin.ssmu.ru/jour/article/view/5030 |
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| author | M. A. Nikitina V. M. Alifirova E. Yu. Bragina N. P. Babushkina D. E. Gomboeva S. M. Nazarenko |
| author_facet | M. A. Nikitina V. M. Alifirova E. Yu. Bragina N. P. Babushkina D. E. Gomboeva S. M. Nazarenko |
| author_sort | M. A. Nikitina |
| collection | DOAJ |
| description | Aim. To analyze risk factors in the group of patients with Parkinson’s disease (PD) and compare them with the literature data.Materials and methods. The study included 439 patients with PD and 354 controls, comparable by gender and age. For each individual, a registration card was filled in containing demographic, epidemiological, clinical, and neuropsychological data. The severity of the disease was studied according to the MDS-UPDRS scale; the stage of PD was determined according to the Hoehn and Yahr scale. Cognitive functions were assessed by the MoCA test and MMSE. The length of the (CAG)n repeat region in the HTT gene was determined using fragment analysis on the ABI 3730 DNA analyzer. The obtained results were analyzed using GeneMapper Software v4.1 (Applied Biosystems, USA).Results. When comparing patients with PD and the control group, the odds ratio (OR) for PD in individuals with traumatic brain injury was 3.13 (95% confidence interval (CI): 2,27–4.34; p = 4.94 × 10–13), which showed the significance of this risk factor for PD. Consumption of coffee in the anamnesis distinguished the group of PD patients from the control group (OR = 0.41 (95% CI: 0.30–0.56); p < 0.0001), confirming its neuroprotective effect. Analysis of the variability in the length of the (CAG)n repeat regions in the HTT gene showed that patients whose genotype contained an allele with 17 repeats in combination with any allele other than an allele containing 18 repeats had a protective effect (OR = 0.50 (95% CI: 0.27–0.92); p = 0.025). All genotypes containing an allele with 18 repeats were predisposed to PD (OR = 2.57 (95% CI: 1.66–4.28); p = 0.007). The predisposing effect of the allele to PD, unrelated to the expansion of CAG repeats in the HTT gene, was revealed for the first time.Conclusion. Traumatic brain injury and the allele with 18 CAG repeats in the HTT gene are risk factors for PD. Coffee consumption can be attributed to protective factors in relation to PD. |
| format | Article |
| id | doaj-art-3af24d184bfc4735b8ce3e8bb7c66673 |
| institution | Kabale University |
| issn | 1682-0363 1819-3684 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Siberian State Medical University (Tomsk) |
| record_format | Article |
| series | Бюллетень сибирской медицины |
| spelling | doaj-art-3af24d184bfc4735b8ce3e8bb7c666732025-08-20T03:37:41ZengSiberian State Medical University (Tomsk)Бюллетень сибирской медицины1682-03631819-36842023-01-0121410511310.20538/1682-0363-2022-4-105-1132947Environmental and genetic risk factors for Parkinson’s diseaseM. A. Nikitina0V. M. Alifirova1E. Yu. Bragina2N. P. Babushkina3D. E. Gomboeva4S. M. Nazarenko5Siberian State Medical UniversitySiberian State Medical UniversityResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Russian Academy of SciencesSiberian State Medical University; Research Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Russian Academy of SciencesAim. To analyze risk factors in the group of patients with Parkinson’s disease (PD) and compare them with the literature data.Materials and methods. The study included 439 patients with PD and 354 controls, comparable by gender and age. For each individual, a registration card was filled in containing demographic, epidemiological, clinical, and neuropsychological data. The severity of the disease was studied according to the MDS-UPDRS scale; the stage of PD was determined according to the Hoehn and Yahr scale. Cognitive functions were assessed by the MoCA test and MMSE. The length of the (CAG)n repeat region in the HTT gene was determined using fragment analysis on the ABI 3730 DNA analyzer. The obtained results were analyzed using GeneMapper Software v4.1 (Applied Biosystems, USA).Results. When comparing patients with PD and the control group, the odds ratio (OR) for PD in individuals with traumatic brain injury was 3.13 (95% confidence interval (CI): 2,27–4.34; p = 4.94 × 10–13), which showed the significance of this risk factor for PD. Consumption of coffee in the anamnesis distinguished the group of PD patients from the control group (OR = 0.41 (95% CI: 0.30–0.56); p < 0.0001), confirming its neuroprotective effect. Analysis of the variability in the length of the (CAG)n repeat regions in the HTT gene showed that patients whose genotype contained an allele with 17 repeats in combination with any allele other than an allele containing 18 repeats had a protective effect (OR = 0.50 (95% CI: 0.27–0.92); p = 0.025). All genotypes containing an allele with 18 repeats were predisposed to PD (OR = 2.57 (95% CI: 1.66–4.28); p = 0.007). The predisposing effect of the allele to PD, unrelated to the expansion of CAG repeats in the HTT gene, was revealed for the first time.Conclusion. Traumatic brain injury and the allele with 18 CAG repeats in the HTT gene are risk factors for PD. Coffee consumption can be attributed to protective factors in relation to PD.https://bulletin.ssmu.ru/jour/article/view/5030parkinson’s diseaserisk factorscoffeetraumatic brain injury<i>htt</i> gene |
| spellingShingle | M. A. Nikitina V. M. Alifirova E. Yu. Bragina N. P. Babushkina D. E. Gomboeva S. M. Nazarenko Environmental and genetic risk factors for Parkinson’s disease Бюллетень сибирской медицины parkinson’s disease risk factors coffee traumatic brain injury <i>htt</i> gene |
| title | Environmental and genetic risk factors for Parkinson’s disease |
| title_full | Environmental and genetic risk factors for Parkinson’s disease |
| title_fullStr | Environmental and genetic risk factors for Parkinson’s disease |
| title_full_unstemmed | Environmental and genetic risk factors for Parkinson’s disease |
| title_short | Environmental and genetic risk factors for Parkinson’s disease |
| title_sort | environmental and genetic risk factors for parkinson s disease |
| topic | parkinson’s disease risk factors coffee traumatic brain injury <i>htt</i> gene |
| url | https://bulletin.ssmu.ru/jour/article/view/5030 |
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