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Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients
PurposeOne of the most important risk factors for hereditary breast and ovarian cancer is young age. We aim to report the frequency of...
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Targeted minor histocompatibility antigen ty** to estimate graft-versus-host disease after allogeneic haematopoietic stem cell transplantation
Graft-versus-host disease (GVHD) is a critical complication after allogeneic haematopoietic stem cell transplantation induced by genetic differences...
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Rs12039395 Variant Influences the Expression of hsa-miR-181a-5p and PTEN Toward Colorectal Cancer Risk
BackgroundSingle nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes could alter miRNA expression levels or processing and, thus, may...
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Mitochondrial genetic variants associated with bipolar disorder and Schizophrenia in a Japanese population
BackgroundBipolar disorder (BD) and schizophrenia (SZ) are complex psychotic disorders (PSY), with both environmental and genetic factors including...
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Variation in the mu-opioid receptor gene (OPRM1) moderates the influence of maternal sensitivity on child attachment
The endogenous opioid system is thought to play an important role in mother-infant attachment. In infant rhesus macaques, variation in the μ-opioid...
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LDL-receptor gene polymorphism as a predictor of coronary artery disease: an Egyptian pilot study: relation to lipid profile and angiographic findings
BackgroundCoronary artery disease (CAD) is the main cause of death in Egypt. Many LDL-R gene locus single nucleotide polymorphisms (SNP) are found to...
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Association of common variant rs9934336 of SLC5A2 (SGLT2) gene with SARS-CoV-2 infection and mortality
COVID-19 has its life-threatening complications more pronounced in people with underlying health conditions such as diabetes, cardiovascular disease...
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Metabolic memory in diabetic foot syndrome (DFS): MICRO-RNAS, single nucleotide polymorphisms (SNPs) frequency and their relationship with indices of endothelial function and adipo-inflammatory dysfunction
BackgroundDiabetic foot is a significant cause of morbidity in diabetic patients, with a rate that is approximately twice that of patients without...
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Genome-wide association study on meningioma risk in Japan: a multicenter prospective study
PurposeAlthough meningiomas are the most common primary intracranial tumors, their genetic etiologies have not been fully elucidated. To date, only...
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Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5
PurposeIn women under the age of 40, primary ovarian insufficiency (POI) is a devastating diagnosis with significant prevalence of 1–4% (Rajkovic and...
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The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia
BackgroundIron-refractory iron deficiency anaemia (IRIDA) is an autosomal recessive iron deficiency anaemia caused by mutations in the TMPRSS6 gene....
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COVID-19 pandemic stressors are associated with reported increases in frequency of drunkenness among individuals with a history of alcohol use disorder
Some sources report increases in alcohol use have been observed since the start of the COVID-19 pandemic, particularly among women. Cross-sectional...
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Genetic variants in the adenosine triphosphate-binding cassette transporter A1 and risk of age-related macular degeneration
Genetic variants in ABCA1 are associated with higher concentrations of high-density lipoprotein (HDL) cholesterol. Higher HDL cholesterol...
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Role of GBA variants in Lewy body disease neuropathology
Rare and common GBA variants are risk factors for both Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). However, the degree to which GBA ...
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The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study)
Several studies have shown association of single nucleotide polymorphisms (SNPs) of hepcidin regulatory pathways genes with impaired iron status. The...
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Genetic polymorphism of WNT9A is functionally associated with thumb osteoarthritis in the Chinese population
BackgroundIn a recent genome-wide association study, novel genetic variations of WNT9A were reported to be involved in the etiopathogenesis of thumb...
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Association of KLOTHO gene variants with metabolic and renal function parameters in Mexican patients living with type 2 diabetes
ObjectiveType 2 diabetes (T2D) and high blood pressure are the main causes of chronic kidney disease (CKD) in adulthood. Both metabolic and oxidative...
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Variant rs17619600 in the gene encoding serotonin receptor 2B (HTR2B) increases the risk of gestational diabetes mellitus: a case–control study
BackgroundDuring pregnancy, the increase in maternal insulin resistance is compensated by hyperplasia and increased function of maternal pancreatic...
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HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins
BackgroundTo investigate the association of HMGCR and NPC1L1 gene polymorphisms with residual cholesterol risk (RCR) in patients with premature...
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Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant Mendelian disease but is now increasingly recognized as having...
