Association of candidate genetic variants with restless legs syndrome in end stage renal disease: a multicenter case−control study in <scp>T</scp>aiwan

Lin, Chin-Hsien; Chen, M.-L.; Wu, Vin‐Cent; Li, W.-Y.; Sy, Hiu-Ngar; Wu, Shey-Lin; Chang, Cheng-Chen; Chiu, Ping Fang; Liou, Hung-Hsiang; Lin, Chien‐Yu; Chang, Hao‐Yu; Lin, Shuei-Liong; Wu, Kwan‐Dun; Chen, Y.-M.; Wu, Ruey Meei

doi:10.1111/ene.12337

Cited by 23 publications

(16 citation statements)

References 25 publications

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“…ESRD with RLS was associated with an elevated risk of cardiovascular events (OR=2.8, 95% CI 2.0–4.1) compared to ESRD without RLS. RLS severity had a strong influence on this relationship, with OR=1.7 (95% CI 1.0–2.9), 2.8 (95% CI 1.6–4.7) and 2.9 (95% CI 2.0–4.5) for mild, moderate, and severe cases respectively [13]. Similar associations were observed for stroke.…”

Section: Epidemiology Of Restless Legs Syndrome and Cardiovascularmentioning

confidence: 64%

Restless legs syndrome and cardiovascular disease: a research roadmap

et al. 2017

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In this paper, we first critically appraise the epidemiologic literature examining the association of restless legs syndrome (RLS) with cardiovascular disease (CVD) and then consider whether lessons learned from the study of cardiovascular consequences of other sleep disorders might inform a research agenda to examine the potential mechanisms of cardiovascular morbidity of RLS. Cross-sectional and longitudinal studies are both mixed as to whether there is a meaningful association of RLS and CVD. On the other hand, numerous cross-sectional and longitudinal observational studies have shown a strong association of obstructive sleep apnea (OSA) with CVD risk. Each of the potential mediating mechanisms in OSA may also be assessed in RLS, including 1) neural mechanisms such as increased central sympathetic outflow, impaired baroreflex function, diminished heart rate and blood pressure variability, and increased chemoreflex sensitivity; 2) metabolic mechanisms such as glucose intolerance and reduced insulin sensitivity/diabetes as a result of sleep disturbance in RLS; 3) oxidative stress; 4) systemic or vascular inflammatory mechanisms; and 5) vascular mechanisms including impaired endothelial functioning, increased aortic stiffness, hypothalamic-pituitary axis activation or renin-angiotensin-aldosterone activation. Three known characteristics of RLS may contribute to these specific mechanisms of increased cardiovascular risk: 1) periodic limb movements of sleep, which are associated with large increases in heart rate and blood pressure; 2) sleep fragmentation and sleep deprivation, which are known to produce adverse consequences for neural, metabolic, oxidative, inflammatory, and vascular systems; and 3) iron deficiency, which is an emerging risk for cardiovascular disease. Future research priorities include additional epidemiologic studies which characterize multiple CVD risk factors, case-control studies which examine known markers of cardiovascular risk, and small clinical trials which assess the effects of RLS treatment on intermediate physiological markers such as sympathetic activity or baroreflex control, measures of vascular stiffness and reactivity, or measures of insulin sensitivity and glucose tolerance.

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Section: Epidemiology Of Restless Legs Syndrome and Cardiovascularmentioning

confidence: 64%

Restless legs syndrome and cardiovascular disease: a research roadmap

et al. 2017

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“…There are negative data from association efforts relevant to putative migraine and multiple sclerosis comorbidities with RLS . There was a nominally significant association of PTPRD rs4626664 alleles (odds ratio of 1.5) with symptomatic RLS in a sample of uremic patients, but no significant association of rs1975197 . There was no association with either SNP in another report .…”

Section: Ptprd Genomic Variation and Ptprd Associations With Human DImentioning

confidence: 96%

PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes

Uhl

Martínez

2019

Annals of the New York Academy of Sciences

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Receptor‐type protein tyrosine phosphatase, receptor type D (PTPRD) has likely roles as a neuronal cell adhesion molecule and synaptic specifier. Interest in its neurobiology and genomics has been stimulated by results from human genetics and mouse models for phenotypes related to addiction, restless leg syndrome, neurofibrillary pathology in Alzheimer's disease, cognitive impairment/intellectual disability, mood lability, and obsessive‐compulsive disorder. We review PTPRD's discovery, gene family, candidate homomeric and heteromeric binding partners, phosphatase activities, brain distribution, human genetic associations with nervous system phenotypes, and mouse model data relevant to these phenotypes. We discuss the recently reported discovery of the first small molecule inhibitor of PTPRD phosphatase, the identification of its addiction‐related effects, and the implications of these findings for the PTPRD‐associated brain phenotypes. In assembling PTPRD neurobiology, human genetics, and mouse genetic and pharmacological datasets, we provide a compelling picture of the roles played by PTPRD, its variation, and its potential as a target for novel therapeutics.

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“… 26 A Taiwanese study of RLS caused by ESRD demonstrated a negative association with the MEIS1 gene. 38 Such inconsistent data might be attributable to differences in genotype or allele frequencies among races. In fact, the rs 6710341 genotyped in our study showed a minor allele frequency which is somewhat different from that in the past study.…”

Section: Discussionmentioning

confidence: 99%

MEIS1, a Promising Candidate Gene, Is Not Associated with the Core Symptoms of Antipsychotic-Induced Restless Legs Syndrome in Korean Schizophrenia Patients

Kang

Lee

2015

Psychiatry Investig

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ObjectiveRestless legs syndrome (RLS) is a distressing sleep disorder to which individuals appear to be genetically predisposed. In the present study, we assumed that antipsychotic-induced RLS symptoms were attributable to differences in individual genetic susceptibility, and investigated whether MEIS1, a promising candidate gene, was associated with antipsychotic-induced RLS symptoms in schizophrenia patients.MethodsAll subjects were diagnosed with schizophrenia by board-certified psychiatrists using the Korean version of the Structured Clinical Interview for DSM-IV. We assessed antipsychotic-induced RLS symptoms in 190 Korean schizophrenic patients using the diagnostic criteria of the International Restless Legs Syndrome Study Group. Genotyping was performed for the rs2300478 and rs6710341 polymorphisms of the MEIS1 gene.ResultsWe divided subjects into RLS symptom (n=96) and non-symptom (n=94) groups. There was no significant between-group difference in the genotype or allele frequencies of the two polymorphisms investigated, nor in the frequency of the rs2300478-rs6710341 haplotype.ConclusionOur data do not suggest that the rs2300478 and rs6710341 polymorphisms of the MEIS1 gene are associated with the core symptoms of antipsychotic-induced RLS in schizophrenia; different genetic mechanisms may underlie antipsychotic-induced vs. primary RLS.

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Association of candidate genetic variants with restless legs syndrome in end stage renal disease: a multicenter case−control study in Taiwan

Cited by 23 publications

References 25 publications

Restless legs syndrome and cardiovascular disease: a research roadmap

Restless legs syndrome and cardiovascular disease: a research roadmap

PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes

MEIS1, a Promising Candidate Gene, Is Not Associated with the Core Symptoms of Antipsychotic-Induced Restless Legs Syndrome in Korean Schizophrenia Patients

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