Publications by authors named "P Kolber"
Article Synopsis
- The study explores how copy number variations (CNVs) affect the development of Parkinson's disease (PD), aiming to identify new genetic mechanisms linked to sporadic cases of the disease.
- Utilizing data from over 11,000 PD patients and nearly 9,000 controls, the researchers discovered 14 significant CNV loci associated with PD, including various gene duplications and deletions.
- The research highlights a higher prevalence of CNVs in specific PD-related genes among patients and suggests that certain CNVs, especially those involving the gene, may lead to earlier onset of the disease in early-onset PD cases.
Article Synopsis
- The study investigates the relationship between body mass index (BMI) and Parkinson's disease (PD) using a method called Mendelian randomization to determine if higher genetically predicted BMI is linked to a lower incidence of PD.
- Researchers analyzed genetic data from large groups of individuals, including over 800,000 for BMI and nearly 29,000 for PD, focusing on factors like age, disease duration, and gender to examine the associations.
- Results indicated an inverse relationship between genetically predicted BMI and PD, particularly among younger participants and women, suggesting that lower BMI may be associated with a higher risk of developing Parkinson's disease.
Background: Deep phenotyping of Parkinson's disease (PD) is essential to investigate this fastest-growing neurodegenerative disorder. Since 2015, over 800 individuals with PD and atypical parkinsonism along with more than 800 control subjects have been recruited in the frame of the observational, monocentric, nation-wide, longitudinal-prospective Luxembourg Parkinson's study.
Objective: To profile the baseline dataset and to explore risk factors, comorbidities and clinical profiles associated with PD, atypical parkinsonism and controls.
Article Synopsis
- Epidemiological studies have shown mixed results regarding the link between Parkinson's disease (PD) and various cancers, primarily due to methodological challenges.
- This research aimed to explore the genetic correlation between PD and different cancers using data from large genome-wide association studies (GWASs) involving thousands of participants, particularly those of European ancestry.
- Findings revealed a positive genetic correlation between PD and melanoma as well as prostate cancer, while showing inverse associations between PD and ovarian cancer, indicating complex genetic interactions between these diseases.
Article Synopsis
- Two contrasting studies previously examined the link between the HLA-DRB1 gene and smoking concerning Parkinson's disease (PD), leading to varying conclusions.
- This research aimed to replicate those findings by analyzing genetic data from over 12,000 PD cases and nearly 9,500 controls, focusing on specific genetic variants related to smoking.
- The results indicated that a specific variant in the HLA-DRB1 gene (valine at position 11) was significantly associated with PD, revealing an inverse relationship between smoking initiation and PD only in individuals lacking this variant, which invites further investigation into the underlying mechanisms.