The distribution of the allele and genotype frequency for the TOMM40 gene polymorphic variants rs741780, rs157580, rs1160985, rs2075650, and rs8106922 was analyzed in a sampling of ethnic Russians from the city of Kemerovo. The study of the structure of linkage disequilibrium in terms of five studied polymorphic variants showed the presence ofa haplotype block 2 Kb in length, which includes three polymorphic variants, i.e., rs741780, rs1160985, and rs8106922. The differences in the frequencies of alleles and genotypes in terms of the polymorphic rs2075650 and rs157580 variants between ethnic Russians from the city of Kemerovo and other European populations were detected. It was discovered that polymorphic variants of TOMM40 rs741780, rs1160985, and rs8106922 are associated with serum triglyceride concentrations. In men, the polymorphic variant rs2075650 is associated with low-density lipoprotein cholesterol levels. In women, the polymorphic variant rs741780 is associated with diastolic blood pressure levels.
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Diabetes Metab Syndr Obes
January 2025
Department of Clinical Laboratory, Guangxi Academy of Medical Sciences, The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, 530021, People's Republic of China.
Objective: To investigate the allelic genotypes of the adiponectin (APN) gene polymorphisms (rs1501299) and its association with APN level among Mets patients.
Methods: A total of 410 patients with Mets and 203 healthy subjects were included in the study. The serum APN levels of the subjects were detected using enzyme-linked immunosorbent assay.
Purpose: To identify genes and patient factors that are related to the development of arthrofibrosis in patients after anterior cruciate ligament (ACL) reconstruction and to develop a prognostic model.
Methods: The study included patients diagnosed with ACL injury who underwent ACL reconstruction. Patients were enroled consecutively and divided into non-fibrotic (controls) and fibrotic (cases) groups until a balanced sample of matched case-control was achieved.
Sci Rep
January 2025
USDA, Agricultural Research Service, US National Poultry Research Center, 934 College Station Road, Athens, GA, 30605, USA.
Marek's disease (MD), a T cell lymphoma disease in chickens, is caused by the Marek's disease virus (MDV) found ubiquitously in the poultry industry. Genetically resistant Line 6 (L6) and susceptible Line 7 (L7) chickens have been instrumental to research on avian immune system response to MDV infection. In this study we characterized molecular signatures unique to splenic immune cell types across different genetic backgrounds 6 days after infection.
View Article and Find Full Text PDFPharmacopsychiatry
January 2025
Max Planck Institute of Psychiatry, Munich, Germany.
A subgroup of patients with acute depression show an impaired regulation of the hypothalamic-pituitary-adrenocortical axis, which can be sensitively diagnosed with the combined dexamethasone (dex)/corticotropin releasing hormone (CRH)-test. This neuropathological alteration is assumed to be a result of hyperactive AVP/V1b signalling. Given the complicated procedure of the dex/CRH-test, this study aimed to develop a genetic variants-based alternative approach to predict the outcome of the dex/CRH-test in acute depression.
View Article and Find Full Text PDFHepatology
January 2025
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Background Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects about a third of adults worldwide and is projected soon to be the leading cause of cirrhosis. It occurs when fat accumulates in hepatocytes and can progress to metabolic dysfunction-associated steatohepatitis (MASH), liver cirrhosis, and hepatocellular carcinoma. MASLD pathogenesis is believed to involve a combination of genetic and environmental risk factors.
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