Browsing by Subject "genetic association study"
Now showing items 1-20 of 32
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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 ... -
Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease
(2018)The MHC class II region in humans is highly polymorphic. Each MHC molecule is formed by an α and a β chain, produced by different genes, creating an antigen-binding groove. In the groove there are several pockets into which ... -
Apolipoprotein ϵ4 allele is associated with frailty syndrome: Results from the hellenic longitudinal investigation of ageing and diet study
(2019)Apolipoprotein (APOE) ϵ4 allele has been associated with a number of age-related diseases but previous studies failed to identify any link with Frailty syndrome. The aim of the present study is to investigate the association ... -
The contribution of genetic variants of SLC2A1 gene in t2dm and T2DM-nephropathy: Association study and meta-analysis
(2018)An association study was conducted to investigate the relation between 14 variants of glucose transporter 1 gene (SLC2A1) and the risk of type 2 diabetes (T2DM) leading to nephropathy. We also performed a meta-analysis of ... -
Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
(2021)[No abstract available] -
Editorial for special issue “genetic basis and epidemiology of myopathies”
(2021)We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology ... -
ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population
(2019)Background: Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect ... -
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years
(2020)Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular ... -
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study
(2017)A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease (PD). Our study examines the proposed interaction between LRRK2 ... -
Extending the clinical phenotype associated with biallelic NTHL1 germline mutations
(2018)[No abstract available] -
FcγRIIa-H131R variant is associated with inferior response in diffuse large B cell lymphoma: A meta-analysis of genetic risk
(2016)Purpose: Low-affinity variants FcγRIIIa-V158F and FcγRI-Ia-H131R may alter response to rituximab-based chemotherapy in diffuse large B-cell lymphoma (DLBCL) but available clinical evidence is inconclusive. Our purpose was ... -
Genetic association studies in patients with traumatic brain injury
(2010)Traumatic brain injury (TBI) constitutes a major cause of mortality and disability worldwide, especially among young individuals. It is estimated that despite all the recent advances in the management of TBI, approximately ... -
Genetic basis of Parkinson disease
(2010)Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal ... -
Genetic determinants of C1 inhibitor deficiency angioedema age of onset
(2017)Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ... -
Genetics of Hereditary Angioedema Revisited
(2016)Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ... -
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
(2021)Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ... -
Identification of gene expression profiles in myocardial infarction: A systematic review and meta-analysis
(2018)Background: Myocardial infarction (MI) is a multifactorial disease with complex pathogenesis, mainly the result of the interplay of genetic and environmental risk factors. The regulation of thrombosis, inflammation and ... -
Integrins AV and B8 Gene Polymorphisms and Risk for Intracerebral Hemorrhage in Greek and Polish Populations
(2017)Α limited number of genetic variants have been linked to the development of intracerebral hemorrhage (ICH). Ιntegrin AV and/or B8-deficient mice were found to develop ICH. The present candidate gene association study was ... -
Key Genetic Components of Fibrosis in Diabetic Nephropathy: An Updated Systematic Review and Meta-Analysis
(2022)Renal fibrosis (RF) constitutes the common end-point of all kinds of chronic kidney disease (CKD), regardless of the initial cause of disease. The aim of the present study was to identify the key players of fibrosis in the ... -
Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis
(2021)Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease. Inflammatory processes are among the mechanisms that are implicated in ALS pathogenesis. The TREM2 rs75932628 T variant may influence the ...