The gene encodes the mannose-binding lectin protein (MBL), which is secreted by the liver. Several variants of have been found to be associated with altered serum levels and susceptibility to various chronic diseases. Defects in MBL protein polymerization that result in functional impairments and/or low serum levels may influence genetic susceptibility to type 2 diabetes (T2D) and its complications. Therefore, the present case-control study was conducted to assess the potential association of six gene variants and haplotypes with susceptibility to T2D and its complications in Morocco. The gene was genotyped by PCR-sequencing for the promoting, non-coding, and coding regions in 435 individuals. Our findings revealed a significant association between the heterozygous CG and homozygous recessive GG genotypes of the variant at position -221 C > G in the gene promoter with an increased risk of T2D. Similarly, for +4 C > T in the non-coding region, statistical analysis indicates a strong association with T2D risk, particularly with the heterozygous CT and homozygous recessive TT genotypes. The LYQC haplotype is also found to be associated with T2D risk. Furthermore, the heterozygous CT genotype, and recessive T allele of the variant at position +4 C > T, and heterozygous GA genotype of codon Gly54Asp of the gene, are associated with protection against hypertension in T2D patients. However, no association was observed between variants and dyslipidemia in T2D patients. The study concludes that -221 C > G and +4 C > T variants of the gene significantly contribute to T2D susceptibility in Morocco.
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http://dx.doi.org/10.1080/15257770.2025.2466429 | DOI Listing |
Clin Transl Allergy
March 2025
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Background: This study aimed to comprehensively characterize the gut microbiome and identify individual and grouped gut microbes associated with food allergy (FA) using 16S rRNA gene sequencing.
Methods: Fecal samples were collected from children with IgE-mediated FA and from sex- and age-matched controls. The V3-V4 variable regions of the 16S rRNA gene of the gut microbiome were profiled using next-generation sequencing (Illumina, USA).
Eur J Neurosci
March 2025
Parkinson's Disease and Movement Disorders Clinic, Bangalore, India.
The release of synaptic vesicles (SVs) at the synaptic junction is a complex process involving various specialized proteins that work in unison. Among these, Bassoon has emerged as a significant protein, particularly noted for its association with various neurological and aging-related diseases. Due to its structural and functional roles, Bassoon has become a focus of recent research, especially in understanding its implications in neurodegenerative and psychiatric disorders.
View Article and Find Full Text PDFJ Cell Mol Med
March 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
View Article and Find Full Text PDFJ Prev Alzheimers Dis
March 2025
Department of Pathophysiology School of Basic Medicine Key Laboratory of Education Ministry/Hubei Province of China for Neurological Disorders Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Background: The swift rise in the prevalence of Alzheimer's disease (AD) alongside its significant societal and economic impact has created a pressing demand for effective interventions and treatments. However, there are no available treatments that can modify the progression of the disease.
Methods: Eight AD brain tissues datasets and three blood datasets were obtained.
EBioMedicine
February 2025
Institute of Medical Sciences, School of Medicine, Medical Sciences & Nutrition, University of Aberdeen, Aberdeen, UK; Institute for Clinical Research and Systems Medicine, Health and Medical University, Potsdam, Germany.
Background: Maternal smoking and foetal exposure to nicotine and other harmful chemicals in utero remains a serious public health issue with little knowledge about the underlying genetics and consequences of maternal smoking in ageing individuals. Here, we investigated the epidemiology and genomic architecture of maternal smoking in a middle-aged population and compare the results to effects observed in the developing foetus.
Methods: In the current project, we included 351,562 participants from the UK Biobank (UKB) and estimated exposure to maternal smoking status during pregnancy through self-reporting from the UKB participants about the mother's smoking status around their birth.
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