Πλοήγηση ανά Θέμα "single nucleotide polymorphism"
Αποτελέσματα 1-20 από 134
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-572 G/C single nucleotide polymorphism of interleukin-6 and sepsis predisposition in chronic renal disease
(2015)Single nucleotide polymorphisms (SNPs) of interleukin (IL)-6 are associated with the development of chronic renal disease (CRD). Their impact for sepsis in the field of CRD was investigated. One control cohort of 115 ... -
The -938C>A polymorphism in MYD88 is associated with susceptibility to tuberculosis: A pilot study
(2016)Introduction. Tuberculosis (TB) is a major disease worldwide, caused by Mycobacterium tuberculosis (MTB) infection.The Toll- Like Receptor (TLR) pathway plays a crucial role in the recognition of MTB. Aim. The present study ... -
ADORA2A rS5760423 and CYP1A2 rs762551 polymorphisms as risk factors for parkinson’s disease
(2021)Background: Parkinson’s disease (PD) is the second commonest neurodegenerative disease. The genetic basis of PD is indisputable. Both ADORA2A rs5760423 and CYP1A2 rs762551 have been linked to PD, to some extent, but the ... -
Alterations in xenobiotic-metabolizing enzyme activities across menstrual cycle in healthy volunteers
(2019)The purpose of the study was to determine whether the in vivo activities of drug-metabolizing enzymes CYP1A2 and CYP2A6, xanthine oxidase (XO), and N-acetyltransferase-2 (NAT2) vary across the menstrual cycle. Forty-two ... -
Alterations of microRNAs in solid cancers and their prognostic value
(2010)MicroRNAs (miRNAs) are evolutionarily conserved, naturally abundant, small, regulatory non-coding RNAs that inhibit gene expression at the post-transcriptional level in a sequence-specific manner. Each miRNA represses the ... -
Ancestry of the Timorese: Age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world
(2015)We observed that the third leading cause of blindness in the world, age-related macular degeneration (AMD), occurs at a very low documented frequency in a population-based cohort from Timor-Leste. Thus, we determined a ... -
AQP4 tag SNPs in patients with intracerebral hemorrhage in Greek and Polish population
(2019)Backround: A relatively small number of genetic variants are implicated to pathophysiology of intracerebral hemorrhage (ICH). Aquaporin-4 (AQP4) has been reported to be implicated in the pathophysiological processes of ICH ... -
Association analysis of FTO gene polymorphisms with obesity in Greek adults
(2017)Nowadays, obesity is the greatest scourge worldwide, particularly for the developed countries and is a huge burden for the public health. Over the past decade, GWAS have revealed a number of genes associated with obesity. ... -
Association between 9p21–23 Locus and Frailty in a Community-Dwelling Greek Population: Results from the Hellenic Longitudinal Investigation of Ageing and Diet
(2022)Background: Frailty is a complex geriatric syndrome arising from a combination of genetic and environmental factors and is associated with adverse health outcomes and mortality. A recent study reported an association between ... -
Association between TLR2/TLR4 gene polymorphisms and COPD phenotype in a Greek cohort [Assoziation zwischen TLR2-/TLR4-Gen-Polymorphismen und COPD-Phänotyp]
(2017)Background: Considering that the innate immune system plays a pivotal role in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that functional single-nucleotide polymorphisms (SNPs) of ... -
Association of anti-CCP positivity and carriage of TNFRII susceptibility variant with anti-TNF-α response in rheumatoid arthritis
(2011)Objective: To investigate the possible influence of tumour necrosis factoralpha (TNF), TNF receptor I (TNFRI) and TNF receptor II (TNFRII) gene polymorphisms on anti-TNF treatment responsiveness, stratified by autoantibody ... -
Association of FCGR2A with the response to infliximab treatment of patients with rheumatoid arthritis
(2014)OBJECTIVES: We aimed to assess a functional polymorphism in FCGR2A H131R, for association with the treatment response to Fc-containing inhibitors of tumor necrosis factor (TNF). METHODS: A total of 429 biologic-naive ... -
Association of IL-10 gene promoter polymorphisms with food allergy susceptibility and serum IL-10 level in a pediatric Caucasian population
(2021)Background: Interleukin 10 has been shown to play a critical role in the regulation of the immune responses in allergic diseases. Aim: To investigate if genetic polymorphisms in the promoter region of the IL-10 gene are ... -
Association of maternal Toll-like receptor-4 alleles with susceptibility to early-onset preeclampsia in central Greece
(2019)Introduction: Altered maternal inflammatory responses may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form and intrauterine growth restriction. We ... -
Association of the leptin gene with knee osteoarthritis susceptibility in a Han Chinese population: A case-control study
(2010)Previous studies have suggested that leptin works as a key regulator in the pathogenesis of osteoarthritis (OA), and genetic factors modulate OA. This study assessed the contribution of leptin gene (LEP) polymorphism(s) ... -
Association of the Polygenic Risk Score With the Probability of Prodromal Parkinson’s Disease in Older Adults
(2021)Several studies have investigated the association of the Parkinson’s disease (PD) polygenic risk score (PRS) with several aspects of well-established PD. We sought to evaluate the association of PRS with the prodromal stage ... -
BAFF receptor polymorphisms and deficiency in humans
(2021)The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including ... -
BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm
(2019)A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP ... -
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus
(2017)Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS ... -
CD33 rs3865444 as a risk factor for Parkinson's disease
(2021)Background: Alzheimer's (AD) and Parkinson's diseases (PD) share a few elements of their clinical, pathological and genetic backgrounds. The CD33 rs3865444 has emerged as a strong genetic locus associated with AD through ...