The expression of sperm-specific genes is necessary in spermiogenesis, and the genetic polymorphism of these genes may impair spermatogenesis, leading to male infertility. Mamy investigations have been conducted on the polymorphism of some candidate genes that are specifically expressed in spermiogenesis, the relation of genetic polymorphism with male infertility and its possible mechanism. Further attempts have been made at the explanation of the causes of infertility from the genetic angle.
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Hepatol Int
January 2025
Division of Gastroenterology and Hepatology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Background/purpose: Although metabolic dysfunction-associated steatotic liver disease (MASLD) has been proposed to replace the diagnosis of non-alcoholic fatty liver disease (NAFLD) with new diagnostic criteria since 2023, the genetic predisposition of MASLD remains to be explored.
Methods: Participants with data of genome-wide association studies (GWAS) in the Taiwan Biobank database were collected. Patients with missing data, positive for HBsAg, anti-HCV, and alcohol drinking history were excluded.
Arch Dermatol Res
January 2025
Tianjin Medical University, Tianjin, 300102, China.
Objective: This study aims to investigate the genetic link between psoriasis and sudden sensorineural hearing loss (SSNHL).
Methods: From a genetic standpoint, this study further highlighted the connection between psoriasis and SSNHL. Single nucleotide polymorphisms (SNPs) connected to SSNHL could be found using a genome-wide association study from the IEU OpenGWAS project website.
Poult Sci
December 2024
Department of Agricultural Biotechnology and Research Institute of Agriculture and Life Sciences, Seoul National University, Seoul, Republic of Korea; Department of International Agricultural Technology & Institute of Green Bioscience and Technology, Seoul National University, Pyeongchang, Republic of Korea. Electronic address:
The tumor virus A receptor (TVA), a member of the low-density lipoprotein receptor (LDLR) family, serves as an entry receptor for Avian Leukosis Virus (ALV) subgroups A and K, as well as a receptor for vitamin B bound to transcobalamin. Naturally occurring genetic variants in the TVA gene determine susceptibility or resistance to ALV-A and -K, but the effects of these mutated TVA on vitamin B uptake have not been investigated systemically. We found four TVA variants comprising the wild type (TVA), a single nucleotide polymorphism variant (TVA), and two partial deletions in the splicing branch point region (TVA).
View Article and Find Full Text PDFXenobiotica
January 2025
Department of Pharmacy, The Fourth Affiliated Hospital of Soochow University, Suzhou Dushu Lake Hospital, Medical Center of Soochow University, Suzhou, 215123, China.
1. Polymorphisms in genes related to drug-metabolizing genes may affect tacrolimus exposure. This study aimed to assess the influence of , , and polymorphisms on tacrolimus pharmacokinetics and outcomes in allogeneic hematopoietic stem cell transplantation (HSCT).
View Article and Find Full Text PDFImmunol Rev
January 2025
Nuffield Department of Medicine, Center for Immuno-Oncology, University of Oxford, Oxford, UK.
HLA-E is a nonclassical, nonpolymorphic, class Ib HLA molecule. Its primary function is to present a conserved nonamer peptide, termed VL9, derived from the signal sequence of classical MHC molecules to the NKG2x-CD94 receptors on NK cells and a subset of T lymphocytes. These receptors regulate the function of NK cells, and the importance of this role, which is conserved across mammalian species, probably accounts for the lack of genetic polymorphism.
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