Steroid 5a-reductase type-2 () has been reported to be associated with hypospadias, but the available results are not consistent across studies. Therefore, we conducted a comprehensive meta-analysis to systematically review the association between gene polymorphisms and hypospadias. Public databases PubMed and Embase were searched before March 1, 2016. Hardy-Weinberg equilibrium (HWE) tests were performed to identify genotypic distribution of single-nucleotide polymorphisms (SNPs) in samples. Among the distribution, we only performed analyses for one SNP (rs523349). The stability of the results was evaluated by sensitivity analysis. Additionally, Egger's test was performed to test a potential publication bias. A total of 6 studies were enrolled. The genotype frequencies were almost consistent with HWE. There were significant differences among gene polymorphisms and the gene models of rs523349. The results of sensitivity analysis revealed that the results were not unduly influenced by any one study. There was a publication bias in mutational homozygote vs. Wild type homozygote (t = 5.4207, = 0.0002) or wild type homozygote vs. heterozygote + wild type homozygote (t = 5.2649, = 0.0002), but no evidence of publication bias was found in other models. is associated with hypospadias, and gene polymorphisms might be one of risk factors of hypospadias.
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http://dx.doi.org/10.1691/ph.2019.8768 | DOI Listing |
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.
Plant Sci
January 2025
Key Laboratory of Biology and Genetic Improvement of Horticulture Crops (Northeast Region), Ministry of Agriculture and Rural Affairs, College of Horticulture and Landscape Architecture, Northeast Agricultural University, Harbin 150030, China; College of Horticulture and Landscape Architecture, Northeast Agricultural University, Harbin 150030, China. Electronic address:
The stripe color of watermelon is a vital commercial trait and is the focus of attention of consumers and researchers. However, the genetic determinants of watermelon stripe color are incompletely understood. Based on the results of preliminary localization studies, we constructed a large-capacity F generation population (710 plants) using light-green striped ZXG1555 and green-striped Cream of Saskatchewan (COS) watermelon strains as parental lines for fine mapping.
View Article and Find Full Text PDFInt Immunopharmacol
January 2025
Department of Pathology, Xiangya Hospital, Central South University, Changsha City, Hunan Province, China; Department of Pathology, School of Basic Medicine, Central South University, Changsha City, Hunan Province, China; Ultrapathology (Biomedical Electron Microscopy) Center, Department of Pathology, Xiang-ya Hospital, Central South University, Changsha City, Hunan Province, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Xiangya Hospital, Central South University, Changsha City, Hunan Province, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha City, Hunan Province, China; FuRong Laboratory, Changsha City, Hunan Province, China. Electronic address:
Background: Neoadjuvant chemotherapy, particularly the use of platinum-based compounds and taxanes, is pivotal in the treatment of epithelial-derived tumors, such as cervical cancer and esophageal squamous cell carcinoma (ESCC); however, resistance remains a significant challenge. Utilizing Mendelian randomization (MR) with pharmacogenomics offers a novel approach to understanding the genetic underpinnings of drug responses, thereby aiding in personalized treatment.
Methods: Single-cell RNA sequencing (scRNA-seq) analysis revealed a shared cellular subpopulation of CD8 + T effector memory (CD8 + TEM) cells that are pivotal in mediating chemotherapy resistance in ESCC and cervical cancer.
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 PDFMol Cell Biochem
January 2025
Department of Molecular Biology and Biochemistry, Guru Nanak Dev University, Amritsar, Punjab, 143 005, India.
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