Auflistung Nach Schlagwort "genetic association study"
Anzeige der Dokumente 21-32 von 32
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Meta-analysis and bioinformatics detection of susceptibility genes in diabetic nephropathy
(2022)The latest meta-analysis of genome-wide linkage studies (GWLS) identified nine cytogenetic locations suggestive of a linkage with diabetic nephropathy (DN) due to type 1 diabetes mellitus (T1DM) and seven locations due to ... -
A meta-analysis of FZD3 gene polymorphisms and their association with schizophrenia
(2016)Objective The aim of this study was to investigate the potential association of FZD3 polymorphisms with schizophrenia. Methods A systematic review and a meta-analysis were carried out comprising of nine genetic association ... -
Methods of analysis and meta-analysis for identifying differentially expressed genes
(2018)Microarray approaches are widely used high-throughput techniques to assess simultaneously the expression of thousands of genes under certain conditions and study the effects of certain treatments, diseases, and developmental ... -
Multivariate methods for meta-analysis of genetic association studies
(2018)Multivariate meta-analysis of genetic association studies and genome-wide association studies has received a remarkable attention as it improves the precision of the analysis. Here, we review, summarize and present in a ... -
Netherton Syndrome: A Genotype-Phenotype Review
(2017)Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor ... -
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature
(2017)Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as ... -
Polymorphisms of IL12RB2 may affect the natural history of primary biliary cholangitis: A single centre study
(2017)Background. Recent GWAS in primary biliary cholangitis (PBC) showed strong associations with SNPs located within interleukin-12 receptor (IL12R) beta-2 (IL12RB2) gene. Aims.We assessedwhether genetic variation of IL12RB2 ... -
Replication of PTPRC as genetic biomarker of response to TNF inhibitors in patients with rheumatoid arthritis
(2016)Genetic biomarkers could be useful for orienting treatment of patients with rheumatoid arthritis (RA), but none has been convincingly validated yet. Putative biomarkers include 14 single nucleotide polymorphisms that have ... -
Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility
(2015)Purpose: MLH3, a MutL homolog protein in mammals playing a role in DNA mismatch repair, is associated with spermatogenesis and male infertility. The purpose of the present study was to investigate the association of the ... -
Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach
(2022)BACKGROUND: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of neurodevelopmental disorders. Despite the extensive efforts of scientists, the etiology of ASD is far from completely ... -
A systematic review and meta-analysis of genetic association studies for the role of inflammation and the immune system in diabetic nephropathy
(2017)Background: Despite the certain contribution of metabolic and haemodynamic factors in diabetic nephropathy (DN), many lines of evidence highlight the role of immunologic and inflammatory mechanisms. To elucidate the ... -
Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach
(2017)Background: The presence of an intracranial aneurysm (IA) is thought to have a genetic origin. The genetic association studies (GAS) that investigated the association between IA and elastin gene (ELN) variants have produced ...