Objective: To evaluate the rs42524 polymorphism of the procollagen type I alpha (α) 2 () gene as a factor related to the development of pelvic organ prolapse (POP) in Brazilian women.
Methods: The present study involved 112 women with POP stages III and IV (case group) and 180 women with POP stages zero and I (control group). Other clinical data were obtained by interviewing the patients about their medical history, and blood was also collected from the volunteers for the extraction of genomic DNA. The promoter region of the gene containing the rs42524 polymorphism was amplified, and the discrimination between the G and C variants was performed by digestion of the polymerase chain reaction (PCR) products with the MspA1I enzyme followed by agarose gel electrophoresis analysis.
Results: A total of 292 women were analyzed. In the case group, 71 had the G/G genotype, 33 had the G/C genotype, and 7 had the C/C genotype. In turn, the ratio in the control group was 117 G/G, 51 G/C, and 11 C/C. There were no significant differences between the groups.
Conclusion: Our data did not show an association between the polymorphism and the occurrence of POP.
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http://dx.doi.org/10.1055/s-0038-1676599 | DOI Listing |
J Clin Invest
January 2025
State Key Laboratory of Oncology in South China, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center - Zhongshan School of Medicine.
Nasopharyngeal carcinoma (NPC) presents a substantial clinical challenge due to the limited understanding of its genetic underpinnings. Here we conduct the largest scale whole-exome sequencing association study of NPC to date, encompassing 6,969 NPC cases and 7,100 controls. We unveil 3 germline genetic variants linked to NPC susceptibility: a common rs2276868 in RPL14, a rare rs5361 in SELE, and a common rs1050462 in HLA-B.
View Article and Find Full Text PDFCurr Med Mycol
May 2024
Department of Mycology and Parasitology, School of Medicine, Urmia University of Medical Sciences, Urmia, Iran.
Background And Purposes: The fungi known as dermatophytes are a group of keratinophilic agents responsible for superficial infections in humans and animals. Recognition of the species distribution and epidemiology of dermatophytosis may be helpful in the prevention and improve prophylactic measures. The present molecular epidemiology study sought to investigate the incidence of etiological agents causing dermatophytosis.
View Article and Find Full Text PDFInt J Med Sci
January 2025
Department of hepatobiliary surgery, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China.
The aim of this study is to utilize two-sample Mendelian randomization (MR) to investigate the potential causal relationship among psoriasis, iridocyclitis, and non-alcoholic fatty liver disease (NAFLD), and to explore any potential mediation effects. Pooled data were derived from the public genome-wide association study (GWAS) in NAFLD (finn-b-NAFLD), iridocyclitis (finn-b-H7_IRIDOCYCLITIS) and psoriasis (finn-b-L12_PSORI_VULG). Univariable MR (UVMR) analysis was implemented to explore the causal relationship among psoriasis, iridocyclitis, and NAFLD, and inverse variance weighting (IVW) was used as the primary analytical method.
View Article and Find Full Text PDFJ Glob Antimicrob Resist
December 2024
Division of Molecular Bacterial Epidemiology & Infectious Diseases, Institute of Veterinary Bacteriology, Vetsuisse Faculty, University of Bern, Switzerland. Electronic address:
Objectives: Sheep farming represents an important economic sector in Algeria, and the potential dissemination of methicillin-resistant Staphylococcaceae (MRS) is a critical veterinary and public health concern. This study aimed to determine the prevalence and types of MRS in ovine in Algeria and characterize them using whole-genome sequencing (WGS) analysis.
Methods: Two hundred sheep from twenty different Algerian farms across three regions were screened for nasal colonization with MRS.
Breast J
January 2025
Department of Drug Discovery and Biomedical Sciences, College of Pharmacy, Medical University of South Carolina, 70 President St., Charleston, SC 29425, USA.
Purpose: Breast cancer is a heterogeneous disease. Exploring new prognostic and therapeutic targets in patients with breast cancer is essential. This study investigated the expression of MET, ESR1, and ESR2 genes and their association with clinicopathologic characteristics and clinical outcomes in patients with breast cancer.
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