Level of serotonin is mainly regulated by the serotonin reuptake transporter encoded by . The promoter region of bears a repeat polymorphism 5-HTTLPR and a single nucleotide polymorphism rs25531. We have previously studied the association between these two variants and sporadic PD. The objective of the current study was to determine whether the polymorphisms were associated with key motor and non-motor symptoms of PD. A total of 370 PD patients of Han Chinese were included. Associations between the polymorphisms and PD symptoms including depression, intellectual impairment, tremor and rigidity were analyzed. 5-HTTLPR was associated with depression in PD patients and presence of the LL genotype was protective against the depression risk. The rs25531 was associated with rest tremor in PD and the A allele serves as a recessive risk allele. No associations were found in the two polymorphisms with respect to intellectual impairment and rigidity in the cohort. The current study reveals two PD symptoms associated with polymorphisms, and provides new insight into how serotonergic system genetically participates in the symptomatic progression of PD. Further study is warranted in additional populations.
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http://dx.doi.org/10.3389/fneur.2019.00333 | DOI Listing |
Aging Clin Exp Res
January 2025
Department of Joint Surgery, HongHui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, 710054, China.
Objective: Osteoarthritis (OA) represents a condition under the influence of central nervous system (CNS) regulatory mechanisms. This investigation aims to examine the causal association between viral infections of the central nervous system (VICNS) and inflammatory diseases of the central nervous system (IDCNS) and knee osteoarthritis (KOA) at the genetic level.
Methods: In this investigation, VICNS and IDCNS were considered as primary exposure variables, while KOA served as the primary outcome.
Dev Psychol
January 2025
School of Philosophy, Psychology, and Language Sciences, University of Edinburgh.
Twin studies have suggested extremely high estimates of heritability for adolescent executive function, with no substantial contributions from shared environment. However, developmental psychology research has found significant correlations between executive function outcomes and elements of the environment that would be shared in twins. It is unclear whether these seemingly contradictory findings are best explained by genetic confounding in developmental studies or limitations in twin studies, which can potentially underestimate shared environment.
View Article and Find Full Text PDFOcul Immunol Inflamm
January 2025
Departamento de Inmunología, Oftalmología y ORL, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
Purpose: HLA-G is a non-classical HLA class I gene encoding a molecule endowed with immunomodulatory properties, playing important immunosuppressive and tolerogenic roles in immuno-privileged organs. Fluctuations in its expression levels have been correlated with the predisposition to autoinflammatory disorders, notably uveitis, characterized by inflammation of the uvea. In the present work, DNA was obtained from saliva samples of 147 Spanish patients with uveitis, with subsequent analysis focusing on the distribution of polymorphisms within the 3'UTR region of the gene (a region known to modulate the expression of the HLA-G molecule).
View Article and Find Full Text PDFAm J Respir Cell Mol Biol
January 2025
University of Groningen, University Medical Center Groningen, Department of Pulmonology and Pediatric Allergy, Beatrix Children's Hospital, Groningen, Netherlands.
Asthma is a genetically complex inflammatory airway disease associated with over 200 Single nucleotide polymorphisms (SNPs). However, the functional effects of many asthma-associated SNPs in lung and airway epithelial samples are unknown. Here, we aimed to conduct expression quantitative trait loci (eQTL) analysis using a meta-analysis of nasal and lung samples.
View Article and Find Full Text PDFBackground: As the prevalence of osteoporotic fractures increases, impacting the health of the aging population significantly, understanding the genetic link between chronic diseases such as primary biliary cholangitis (PBC) and osteoporosis (OP) is crucial. Despite existing research, the direct genetic relationship between these conditions remains unclear.
Materials And Methods: This study used a two-sample Mendelian randomization approach, drawing on the largest available genome-wide association studies.
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