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Mannose-binding lectin (MBL) is a serum protein of innate immunity, with a central role in the activation of the complement system through the lectin pathway. This protein is encoded by gene, and single-nucleotide polymorphisms located at exon 1, such as rs5030737 C>T ( variant), rs1800450 G>A ( variant), and rs1800451 G>A ( variant), may change the MBL structure and the serum concentration. polymorphisms have been associated with several infectious diseases, including leprosy. Host immune response has a major impact on the clinical manifestation of leprosy since only a few individuals infected with will develop the disease. Therefore, the aim of this study was to evaluate the influence of exon 1 polymorphisms (rs5030737, rs1800450, and rs1800451) on the MBL levels and leprosy immunopathogenesis. This case-control study included 350 leprosy patients from Southern Brazil, with 279 classified as multibacillary (MB) and 71 as paucibacillary (PB). The control group consisted of 350 non-consanguineous individuals, who were not diagnosed with leprosy or other infectious and autoimmune diseases. Genotyping was performed by PCR-sequence specific primers, and the MBL serum concentrations were evaluated by ELISA. exon 1 polymorphisms were analyzed individually and grouped as genotypes, considering "A" as the wild allele and "O" as the presence of at least one polymorphism (, or variants). Differences were not observed in the distribution of genotypic and allelic frequencies between leprosy patients and controls. However, in a haplotypic analysis, the TGG haplotype presented a risk for development of leprosy in women when compared to the wild haplotype (CGG) (OR = 2.69). Comparing patients with MB and PB, in a multivariate analysis, the variant was associated with the susceptibility of developing the MB form of leprosy (OR = 2.55). Besides that, the CAG haplotype showed an increased susceptibility to develop MB leprosy in women compared to men. It was observed that the A/O genotype in women was associated with a susceptibility to leprosy development (OR = 1.66) and progression to MB leprosy (OR = 3.13). In addition, the MBL serum concentrations were in accordance with the genotyping analysis. In summary, our data suggest that exon 1 polymorphisms are associated with an increased risk to leprosy development and progression.
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http://dx.doi.org/10.3389/fimmu.2020.01927 | DOI Listing |
Leukemia
December 2024
Division of Hematology/Oncology, Department of Medicine, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Although multiple genetic events are thought to play a role in promoting progression of the myeloproliferative neoplasms (MPN), the individual events that are associated with the development of more aggressive disease phenotypes remain poorly defined. Here, we report that novel genomic deletions at chromosome 12q14.3, as detected by a high-resolution array comparative genomic hybridization plus single nucleotide polymorphisms platform, occur in 11% of MPN patients with myelofibrosis (MF) and MPN-accelerated/blast phase (AP/BP) but was not detected in patients with polycythemia vera or essential thrombocythemia.
View Article and Find Full Text PDFCureus
November 2024
Biochemistry, Nizam's Institute of Medical Sciences, Hyderabad, IND.
Background Lipoprotein-associated phospholipase A2 (Lp-PLA2) is a key enzyme selectively expressed in unstable, rupture-prone atherosclerotic plaques. Previous research has established a strong link between the gene and the development of coronary artery disease (CAD). While traditional risk factors like cholesterol levels and blood pressure are valuable, there remains a need for more specific biomarkers to identify individuals at heightened risk of atherosclerosis before the onset of clinical symptoms.
View Article and Find Full Text PDFZhonghua Yu Fang Yi Xue Za Zhi
December 2024
Shenzhen Key Laboratory of Medical Laboratory and Molecular Diagnosis,Shenzhen518035,China Department of Laboratory Medicine, The Second People's Hospital of Shenzhen,Shenzhen518035,China.
To analyze the correlation of exon rs1126671 and exon rs971074 polymorphisms with risky drinking behaviors and alcoholic liver disease. The patients with alcoholic liver disease diagnosed in the Gastroenterology Department of the People's Hospital of Hechi from November 2021 to June 2022, including 52 cases of alcoholic liver disease with positive risky drinking behaviors, 103 cases of non-alcoholic liver disease with positive risky drinking behaviors of the same gender and age, and 105 healthy subjects with no risky drinking behaviors as control groups were retrospectively analyzed. The serum total protein and albumin are detected by immunoturbidimetry and globulin is calculated by the difference method; the serum total bilirubin and direct bilirubin are detected by the nitrite oxidation method and indirect bilirubin is calculated by the difference method; alkaline phosphatase, aspartate aminotransferase, alanine aminotransferase and γ-glutamyl transferase are detected by the substrate method.
View Article and Find Full Text PDFBMC Med Genomics
December 2024
Centre for Molecular Biology, Central University of Jammu, Jammu, UT Jammu and Kashmir, 181143, India.
Background: Hypertension (HTN) is a medical condition characterized by persistent systolic and diastolic blood pressures of ≥ 140 mmHg and ≥ 90 mmHg, respectively. With more than 1200 million adult patients aged 30-79 years worldwide according to the latest WHO data, HTN is a major health risk factor; more importantly, 46% of patients are unaware of this condition. Essential hypertension (EH), also known as primary hypertension, is the predominant subtype and has a complex etiology that involves both genetic and non-genetic factors.
View Article and Find Full Text PDFBMC Genomics
December 2024
Institut de Recherche en Sciences de la Santé, Bobo-Dioulasso, 01 BP 545, Burkina Faso.
Background: The recent success of a population control gene drive targeting the doublesex gene in Anopheles gambiae paved the way for developing self-sustaining and self-limiting genetic control strategies targeting the sex determination pathway to reduce and/or distort the reproductive capacity of insect vectors. However, targeting these genes for genetic control requires a better understanding of their genetic variation in natural populations to ensure effective gene drive spread. Using whole genome sequencing (WGS) data from the Ag1000G project (Ag3.
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