Paratuberculosis (Johne's disease), caused by Mycobacterium avium subsp. paratuberculosis, is an important disease for bovines, although its genetic basis is poorly understood. In this study, three candidate genes were typed to study the associations between single nucleotide polymorphisms (SNPs) and paratuberculosis susceptibility (measured in a 1 or 0 form) at the haplotype level. A significant risk haplotype, constructed by a variant allele (C) at the first SNP and a common allele (A) at the second SNP, within the CARD15 gene was detected to trigger genetic effects on paratuberculosis infection in an overdominace manner. Marginally significant haplotypes were identified for the other two genes. The results obtained will provide scientific guidance about the selection and prediction of resistance types in bovines.
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http://dx.doi.org/10.1007/s00335-008-9167-0 | DOI Listing |
Pregnancy Hypertens
January 2025
Faculté des Sciences de Tunis, Université de Tunis El Manar, Tunis, Tunisia; Department of Biological Sciences, Brock University, St. Catharines, Canada. Electronic address:
Unlabelled: Preeclampsia (PE) is a pregnancy-specific vascular disorder associated with endothelial dysfunction, hypertension, and proteinuria. The methylenetetrahydrofolate reductase (MTHFR) enzyme regulates essential cellular functions in pregnancy owing to its effects on folate metabolism and DNA methylation. Previous studies implicated the association of rs1801133 (C677T; Ala222Val) and rs1801131 (A1298C; Glu429Ala) in the MTHFR gene with PE in different ethnic groups, but with mixed outcomes.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Consejo Nacional de Investigaciones Científicas y Técnicas, CONICET, Buenos Aires, Argentina.
Background: This research explores complement activation products involvement and risk and protective polymorphisms in the complement alternative pathway genes in Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS) pathogenesis.
Methods: We analyzed the levels of complement activation products, C3a, C5a and soluble C5b-9 (sC5b-9) and plasma concentrations of Factor H (FH) and FH-related protein 1 (FHR-1) in 44 patients with STEC-HUS, 12 children with STEC-positive diarrhea (STEC-D), and 72 healthy controls (HC). STEC-HUS cases were classified as "severe" or "non-severe".
Equine Vet J
January 2025
UCD School of Agriculture and Food Science, University College Dublin, Dublin, Ireland.
Background: Equine recurrent laryngeal neuropathy (RLN) is an economically important upper respiratory tract (URT) disease with a genetic contribution to risk, but genetic variants independent of height have not been identified for Thoroughbreds. The method of clinical assessment for RLN is critical to accurately phenotype groups for genetic studies.
Objectives: To identify genetic risk loci for RLN in Thoroughbreds in a genome-wide association study (GWAS) following high-resolution phenotyping.
J Pediatr Urol
December 2024
Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address:
Backgrounds: The pathophysiology of nephrolithiasis is complex, influenced by both environmental and genetic factors. Calcium is the most prevalent metabolite present in the stone matrix. Stimulating the basolateral calcium sensing receptor (CASR) in the renal tubules leads to an increase in claudin-14 expression, reducing paracellular calcium permeability and increasing urinary Ca excretion.
View Article and Find Full Text PDFZhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Nephrology, Third Xiangya Hospital, Central South University, Changsha 410013.
Objectives: Genetic factors play an important role in the pathogenesis of diabetic kidney disease (DKD). Studies have shown that gene polymorphism is associated with the pathogenesis of type 2 diabetes mellitus (T2DM), but its role in DKD remains unclear. This study aims to analyze the distribution of alleles and genotypes of gene in patients with T2DM, and investigate the association between genetic polymorphism and DKD susceptibility in T2DM patients, which may provide new ideas for the pathogenesis of DKD.
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