scholarly journals Pharmacologic treatment of restless legs syndrome

2020 ◽  
Vol 19 ◽  
Author(s):  
Qing Lv ◽  
Xinlin Wang ◽  
Tetsuya Asakawa ◽  
Xiao Ping Wang
Keyword(s):  
Restless Legs Syndrome ◽  
Association Studies ◽  
Cell Loss ◽  
Genome Wide Association Studies ◽  
Neural Pathways ◽  
Dopaminergic Drugs ◽  
Restless Legs ◽  
Genome Wide ◽  
Mechanistic Basis

: Restless legs syndrome (RLS)/Willis-Ekbom disease is a neurologic disorder characterized by a strong desire to move when at rest (usually in the evening) and paraesthesia in their lower legs. The most widely used therapies for first-line treatment of RLS are dopaminergic drugs; however, their long-term use can lead to augmentation. α2δ Ligands, opioids, iron, glutamatergic drugs, adenosine, and sleep aids have been investigated as alternatives. The pathogenesis of RLS is not well understood. Despite the efficacy of dopaminergic drugs in the treatment of this disorder, unlike in Parkinson’s disease dopaminergic cell loss in the substantia nigra has not been observed in RLS. The etiology of RLS is likely complex, involving multiple neural pathways. RLS-related genes identified in genome-wide association studies can provide insight into the mechanistic basis and pathophysiology of RLS. Here we review the current treatments and knowledge of the mechanisms underlying RLS.

Latest Perspectives in Genetic Risk Factors for Restless Legs Syndrome

2013 ◽  
Vol 8 (2) ◽  
pp. 90 ◽  
Author(s):  
Félix Javier Jiménez-Jiménez ◽  
Hortensia Alonso-Navarro ◽  
Elena García-Martín ◽  
José AG Agûndez ◽  
◽  
...  
Keyword(s):  
Restless Legs Syndrome ◽  
Association Studies ◽  
Positive Family History ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Restless Legs ◽  
Genome Wide ◽  
History Of ◽  
High Concordance ◽  
Control Association

The high frequency of positive family history of restless legs syndrome (RLS) in patients with this disease and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the development of RLS. Although a number of variants for several genes may increase the risk of RLS, no definitive causative genes have been identified to date. In this review, we summarise the studies performed on families with RLS, twin studies, linkage studies, genome-wide association studies, case-control association studies and exome sequencing in RLS. The strongest candidate genes are ofPTPRD, BTBD9andMEIS.

scholarly journals Large genome-wide association study identifies three novel risk variants for restless legs syndrome

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Maria Didriksen ◽  
Muhammad Sulaman Nawaz ◽  
Joseph Dowsett ◽  
Steven Bell ◽  
Christian Erikstrup ◽  
...  
Keyword(s):  
Restless Legs Syndrome ◽  
Genome Wide Association Study ◽  
Association Studies ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
Polygenic Risk Score ◽  
Eqtl Analysis ◽  
Genome Wide Association Studies ◽  
Restless Legs ◽  
Genome Wide

AbstractRestless legs syndrome (RLS) is a common neurological sensorimotor disorder often described as an unpleasant sensation associated with an urge to move the legs. Here we report findings from a meta-analysis of genome-wide association studies of RLS including 480,982 Caucasians (cases = 10,257) and a follow up sample of 24,977 (cases = 6,651). We confirm 19 of the 20 previously reported RLS sequence variants at 19 loci and report three novel RLS associations; rs112716420-G (OR = 1.25, P = 1.5 × 10−18), rs10068599-T (OR = 1.09, P = 6.9 × 10−10) and rs10769894-A (OR = 0.90, P = 9.4 × 10−14). At four of the 22 RLS loci, cis-eQTL analysis indicates a causal impact on gene expression. Through polygenic risk score for RLS we extended prior epidemiological findings implicating obesity, smoking and high alcohol intake as risk factors for RLS. To improve our understanding, with the purpose of seeking better treatments, more genetics studies yielding deeper insights into the disease biology are needed.

Primary Sjögren Syndrome

2015 ◽  
Author(s):  
E. William St. Clair ◽  
Melissa A. Wells
Keyword(s):  
Keratoconjunctivitis Sicca ◽  
Association Studies ◽  
Connective Tissue Diseases ◽  
Lymphocyte Activation ◽  
Genome Wide Association Studies ◽  
Dry Eyes ◽  
Rheumatologic Diseases ◽  
Genome Wide ◽  
Chronic Inflammatory Condition

This review focuses on the primary category of Sjögren syndrome (SS), a chronic inflammatory condition that is defined by the presence of dry eyes (keratoconjunctivitis sicca) or dry mouth (xerostomia) in the absence of other rheumatologic diseases. SS may also have extraglandular manifestations in the form of pulmonary, renal, gastrointestinal, and neurologic diseases that can cause significant morbidity and increased mortality and is distinct from other connective tissue diseases. Although the etiology of primary SS is unknown, genome-wide association studies are continuing to reveal that susceptibility to the disease is based on genetic predisposition; patients with primary SS have been identified with several non–major histocompatibility complex genetic polymorphisms that are statistically associated with increased disease susceptibility. In a recent study, blood CD4+ T cells from patients with primary SS were shown to differ in their patterns of DNA methylation compared with healthy controls and demonstrated that many genes involved in lymphocyte activation and the immune response were poised for transcription. Treatment of primary SS mainly involves relief of symptoms and prevention of long-term disease complications. Although biologic therapies have been studied, the results so far have been either negative or inconclusive. This review contains 5 highly rendered figures, 5 tables, and 89 references.

Current Challenges in the Genetics of Psoriatic Arthritis: A Report from the GRAPPA 2009 Annual Meeting

2011 ◽  
Vol 38 (3) ◽  
pp. 564-566 ◽  
Author(s):  
PROTON RAHMAN
Keyword(s):  
Psoriatic Arthritis ◽  
Annual Meeting ◽  
Association Studies ◽  
Environment Interaction ◽  
Genome Wide Association Studies ◽  
Novel Genes ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Genome Wide

Psoriasis and psoriatic arthritis (PsA) are heterogeneous diseases. While both have a strong genetic basis, it is strongest for PsA, where fewer investigators are studying its genetics. Over the last year the number of independent genetic loci associated with psoriasis has substantially increased, mostly due to completion of multiple genome-wide association studies (GWAS) in psoriasis. At least 2 GWAS efforts are now under way in PsA to identify novel genes in this disease; a metaanalysis of genome-wide scans and further studies must follow to examine the genetics of disease expression, epistatic interaction, and gene-environment interaction. In the long term, it is anticipated that genome-wide sequencing is likely to generate another wave of novel genes in PsA. At the annual meeting of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA) in Stockholm, Sweden, in 2009, members discussed issues and challenges regarding the advancement of the genetics of PsA; results of those discussions are summarized here.

scholarly journals Identification of potential key genetic factors in the long-term success of Shigella as pathogens

2020 ◽  
Vol 2 (7A) ◽  
Author(s):  
Rebecca Bennett ◽  
Rebecca Bengtsson ◽  
Kate Baker
Keyword(s):  
Genetic Factors ◽  
Association Studies ◽  
Enteric Bacteria ◽  
Continuous Variable ◽  
Genome Wide Association Studies ◽  
Phenotypic Analysis ◽  
Global Management ◽  
Genome Wide ◽  
New Antibiotics

Bacterial of the genus Shigella are a major contributor to the global diarrhoea burden causing 100,000 deaths per annum globally. Further to this, increasing antibiotic resistance in Shigella and the lack of a licenced vaccine has led WHO to recognise Shigella as a priority organism for the development of new antibiotics. Understanding what drives the long-term persistence and success of this pathogen will thus aid the global management of shigellosis and may identify targets relevant to other enteric bacteria. To identify key genetic drivers of Shigella evolution over the past 100 years, we have used the historical Murray collection; comprising several hundred pre-antibiotic era (1917 – 1954) Enterobacteriaceae from diverse geographical locations. We employed genome-wide association studies to sequences from over 100 Shigella isolates from the Murray collection alongsidemore modern (i.e. 1950s – 2018) isolates to identify genetic factors (SNPs and genes) significantly associated with time as a continuous variable. GWAS hits (e.g. a putative resistance protein) then underwent variation, functional and phenotypic analysis to examine the plausibility of their role in shaping Shigella populations and as potential targets for managing this pathogen.

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