Chronic superficial keratitis (CSK) is a progressive inflammatory condition of the eye (cornea) that can cause discomfort and blindness. Differential disease risk across dog breeds strongly suggests that CSK has a genetic basis. In addition to genetic risk, the occurrence of CSK is exacerbated by exposure to ultraviolet light. Genome-wide association analysis considered 109 greyhounds, 70 with CSK and the remainder with normal phenotype at an age over four years. Three co-located variants on CFA18 near the 5' region of the Epidermal Growth Factor Receptor () gene were associated with genome-wide significance after multiple-test correction (BICF2P579527, CFA18: 6,068,508, p = 1.77 × 10, p = 0.017; BICF2P1310662, CFA18: 6,077,388, p = 4.09 × 10, p = 0.040; BICF2P160719, CFA18: 6,087,347, p = 4.09 × 10, p = 0.040) (canFam4)). Of the top 10 associated markers, eight were co-located with the significantly associated markers on CFA18. The associated haplotype on CFA18 is protective for the CSK condition. is known to play a role in corneal healing, where it initiates differentiation and proliferation of epithelial cells that in turn signal the involvement of stromal keratocytes to commence apoptosis. Further validation of the putative functional variants is required prior to their use in genetic testing for breeding programs.
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http://dx.doi.org/10.3390/genes13081328 | DOI Listing |
Cell Mol Biol (Noisy-le-grand)
January 2025
Dept. of Genetics and Plant Breeding, Bangabandhu Sheikh Mujibur Rahman Agricultural University, Gazipur 1706, Bangladesh.
Rice salt tolerance is highly anticipated to meet global demand in response to decreasing farmland and soil salinization. Therefore, dissecting the genetic loci controlling salt tolerance in rice for improving productivity is of utmost importance. Here, we evaluated six salt-tolerance-related traits of a biparental mapping population comprising 280 F2 rice individuals (Oryza sativa L.
View Article and Find Full Text PDFBMC Gastroenterol
January 2025
Institute of Digestive Diseases, Xiyuan Hospital of China Academy of Chinese Medical Sciences, Beijing, 100091, China.
Background: Previous studies have suggested an association between inflammatory bowel disease (IBD), and pancreatitis, including acute pancreatitis (AP) and chronic pancreatitis (CP). We aimed to examine the potential causal relationship between IBD and pancreatitis using the Mendelian randomization (MR) method.
Methods: We obtained data from genome-wide association studies (GWASs) in European individuals for IBD and its main subtypes, Crohn's disease (CD) and ulcerative colitis (UC) (31,665 IBD cases, 13,768 UC cases, 17,897 CD cases and 33,977 controls).
BMC Oral Health
January 2025
Department of Stomatology, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China.
Background: Previous studies have indicated that retinol and vitamin D may be associated with the oncogenesis of tongue cancer. Therefore, we aimed to assess the causal relationships of retinol and vitamin D with the risk of tongue cancer using the two-sample Mendelian randomization (MR) method.
Methods: Single nucleotide polymorphisms (SNPs) related to retinol, vitamin D and tongue cancer were obtained from the up-to-date genome-wide association study (GWAS) catalogue, which was screened for instrumental variables (IVs).
Sci Rep
January 2025
Department of Endocrinology, The Second Affiliated Hospital, Zhejiang University School of Medicine, No. 88, Jiefang Road, Shangcheng District, Hangzhou, 310000, Zhejiang Province, China.
Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction, is a major cause of secondary hypertension with significant cardiovascular complications. Current treatments mainly focus on symptom management rather than addressing underlying mechanisms. This study aims to discover novel therapeutic targets for PA using integrated bioinformatics and experimental validation approaches.
View Article and Find Full Text PDFPharmacol Res
January 2025
Centre of Clinical Pharmacology & Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK; NIHR Barts Biomedical Research Centre, Queen Mary University of London, London, UK. Electronic address:
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