8 documents found, page 1 of 1
Association of body mass index and Parkinson disease
Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Ashok Kumar Sreelatha, Ashwin; Schulte, Claudia; Grover, Sandeep; Portugal, Berta; Lee, Pei-ChenBackground and objectives: The role of body mass index (BMI) in Parkinson disease (PD) is unclear. Based on the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in PD (Courage-PD) consortium, we used 2-sample Mendelian randomization (MR) to replicate a previously reported inverse association of genetically predicted BMI with PD and investigated whether findings were robust in analyses ...
Genetic variability in sporadic amyotrophic lateral sclerosis
Van Daele, Sien Hilde; Moisse, Matthieu; van Vugt, Joke J. F. A.; Zwamborn, Ramona A. J.; van der Spek, Rick; van Rheenen, Wouter; Van Eijk, KristelWith the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in gene testing for this disease. Although there is ample experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large studies exploring genetic variation in all ALS-associated genes in sporadic ALS (sALS) are still scarce. Gene testing in a diagnostic setting is challenging, given the complex ge...
Dairy intake and Parkinson's disease: a Mendelian randomization study
Domenighetti, Cloé; Sugier, Pierre‐Emmanuel; Ashok Kumar Sreelatha, Ashwin; Schulte, Claudia; Grover, Sandeep; Mohamed, Océane; Portugal, BertaBackground: Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association is causal or explained by reverse causation or confounding. Objective: The aim is to examine the association between genetically predicted dairy intake and PD using two-sample Mendelian randomization (MR). Methods: We genotyped a well-establ...
Structural variation analysis of 6,500 whole genome sequences in amyotrophic la...
Al Khleifat, Ahmad; Iacoangeli, Alfredo; van Vugt, Joke J. F. A.; Bowles, Harry; Moisse, Matthieu; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a little of the heritability. Genomic structural variation might account for some of this otherwise unexplained heritability. We therefore investigated associati...
Genome-wide study of DNA methylation shows alterations in metabolic, inflammato...
Hop, Paul J.; Zwamborn, Ramona A. J.; Hannon, Eilis; Shireby, Gemma L.; Nabais, Marta F.; Walker, Emma M.; van Rheenen, Wouter; van Vugt, Joke J. F. A.Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent...
Genome-wide analyses identify KIF5A as a novel ALS gene
Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Int...
Genome-wide association analyses identify new risk variants and the genetic arc...
van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M.; McLaughlin, Russell L.; Diekstra, Frank P.; Pulit, Sara L.; van der Spek, Rick A. A.To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fin...
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degene...
Rollinson, Sara; Rizzu, Patrizia; Sikkink, Stephen; Baker, Matthew; Halliwell, Nicola; Snowden, Julie; Traynor, Bryan J.; Ruano, Dina; Cairns, Nigelhttp://www.sciencedirect.com/science/article/B6T09-4VKMW0R-1/2/c38ac7e3dcb87f1e42d35a151a3f69b2