Auflistung Nach Schlagwort "haplotype"
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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 ... -
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 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 p16 (CDKN2A) polymorphisms with the development of HPV16-related precancerous lesions and cervical cancer in the Greek population
(2018)The tumor suppressor protein p16 plays a fundamental role in cell cycle regulation and exerts a protective effect against tumor growth. Two different polymorphisms at positions 540 and 580 at the 3′UTR of exon 3 of p16 ... -
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 ... -
The associations of ACE polymorphisms with physical, physiological and skill parameters in adolescents
(2006)Genetic variation in the human Angiotensin I-Converting Enzyme ( ACE) gene has been associated with many heritable traits, including physical performance. Herein we report the results of a study of several physical, ... -
BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects
(2020)Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ... -
A case-control study on the risk factors for meningococcal disease among children in Greece
(2016)Purpose: The aim of this study was to identify environmental or genetic risk factors that are associated with invasive meningococcal disease (IMD) in children in Greece. Methods: A case-control study was performed in 133 ... -
Cerebral and non-cerebral coenurosis: on the genotypic and phenotypic diversity of Taenia multiceps
(2016)We characterised the causative agents of cerebral and non-cerebral coenurosis in livestock by determining the mitochondrial genotypes and morphological phenotypes of 52 Taenia multiceps isolates from a wide geographical ... -
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 ... -
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
(2007)Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area ... -
Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approach
(2010)To identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). ... -
DHLAS: A web-based information system for statistical genetic analysis of HLA population data
(2007)DHLAS (database HLA system) is a user-friendly, web-based information system for the analysis of human leukocyte antigens (HLA) data from population studies. DHLAS has been developed using JAVA and the R system, it runs ... -
Effect of angiotensin-converting enzyme tag single nucleotide polymorphisms on the outcome of patients with traumatic brain injury
(2015)Background Genetic variants appear to influence, at least to some degree, the extent of brain injury and the clinical outcome of patients who have sustained a traumatic brain injury (TBI). Angiotensin-converting enzyme ... -
Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the βS/benin haplotype
(2005)There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the βS/Bantu haplotype is heterogeneous at ... -
Genetic spatiotemporal anatomy of plasmodium vivax malaria episodes in Greece, 2009–2013
(2018)An influx of immigrants is contributing to the reemergence of Plasmodium vivax malaria in Greece; 1 persistent focus of transmission is in Laconia, Pelopónnese. We genotyped archived blood samples from a substantial ... -
Genetics of COVID-19 and myalgic encephalomyelitis/chronic fatigue syndrome: a systematic review
(2022)COVID-19 and ME/CFS present with some similar symptoms, especially physical and mental fatigue. In order to understand the basis of these similarities and the possibility of underlying common genetic components, we performed ... -
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients
(2017)Background: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted ... -
Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity
(2021)Aims: The aim of this study was to identify risk variants and haplotypes that impair dihydropyrimidine dehydrogenase (DPD) activity and are, therefore, candidate risk variants for severe toxicity to 5-fluorouracil (5-FU) ...