Previous results from our genetic analyses using pedigrees from a French Canadian population suggested that the interval delimited by markers on chromosome 12, D12S86 and D12S378, was the most probable genomic region to contain a susceptibility gene for affective disorders. Association studies with microsatellite markers using a case/control sample from the same population (n = 427) revealed significant allelic associations between the bipolar phenotype and marker NBG6. Since this marker is located in intron 9 of the P2RX7 gene, we analyzed the surrounding genomic region for the presence of polymorphisms in regulatory, coding and intron/exon junction sequences. Twenty four (24) SNPs were genotyped in a case/control sample and 12 SNPs in all pedigrees used for linkage analysis. Allelic, genotypic or family-based association studies suggest the presence of two susceptibility loci, the P2RX7 and CaMKK2 genes. The strongest association was observed in bipolar families at the non-synonymous SNP P2RX7-E13A (rs2230912, P-value = 0.000708), which results from an over-transmission of the mutant G-allele to affected offspring. This Gln460Arg polymorphism occurs at an amino acid that is conserved between humans and rodents and is located in the C-terminal domain of the P2X7 receptor, known to be essential for normal P2RX7 function.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.b.30303 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Emergence and clinical challenges of ST11-K64 carbapenem-resistant Klebsiella pneumoniae: molecular insights and implications for antimicrobial resistance and virulence in Southwest China.
BMC Infect Dis
January 2025
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, the First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Background: In clinical practice, the emergence of ST11-K64 carbapenem-resistant Klebsiella pneumoniae (ST11-K64 CRKP) has become increasingly alarming. Despite this trend, limited research has been conducted to elucidate the clinical and molecular characteristics of these strains.
Objectives: This study aimed to comprehensively investigate the clinical characteristics, antimicrobial resistance patterns, resistance and virulence-associated genes, and molecular epidemiology of ST11-K64 CRKP in Southwest China.
Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.
Nat Genet
January 2025
Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Genome-wide association studies have identified approximately 200 genetic risk loci for breast cancer, but the causal variants and target genes are mostly unknown. We sought to fine-map all known breast cancer risk loci using genome-wide association study data from 172,737 female breast cancer cases and 242,009 controls of African, Asian and European ancestry. We identified 332 independent association signals for breast cancer risk, including 131 signals not reported previously, and for 50 of them, we narrowed the credible causal variants down to a single variant.
View Article and Find Full Text PDFMiR8523 negatively regulates the immunity of Plutella xylostella against entomopathogenic fungus Isaria cicadae by targeting PxSpz5.
Int J Biol Macromol
January 2025
Anhui Province Key Laboratory of Integrated Pest Management on Crops, School of Plant Protection, Anhui Agricultural University, Hefei 230036, China; Key Laboratory of Agri-products Quality and Biosafety (Anhui Agricultural University), Ministry of Education, Hefei 230036, China. Electronic address:
The diamondback moth, Plutella xylostella is a notorious pest and has developed serious resistance to insecticides. Entomopathogenic fungi (EPF) have been developed as eco-friendly alternatives to insecticides. Insects rely on their immunity to defend against fungi.
View Article and Find Full Text PDFSystematic functional characterization of non-coding regulatory SNPs associated with central obesity.
Am J Hum Genet
January 2025
Key Laboratory of Biomedical Information Engineering of Ministry of Education, Key Laboratory of Biology Multiomics and Diseases in Shaanxi Province Higher Education Institutions, Biomedical Informatics & Genomics Center, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, Shaanxi, China. Electronic address:
Central obesity is associated with higher risk of developing a wide range of diseases independent of overall obesity. Genome-wide association studies (GWASs) have identified more than 300 susceptibility loci associated with central obesity. However, the functional understanding of these loci is limited by the fact that most loci are in non-coding regions.
View Article and Find Full Text PDFAssociation of vitamin D receptor gene polymorphisms, metabolic features and susceptibility to polycystic ovary syndrome: a preliminary study.
Reprod Biomed Online
September 2024
UMF Iuliu Haţieganu, Cluj-Napoca, Romania.
Research Question: Are the combined genotypes and haplotypes of vitamin D receptor (VDR) gene polymorphisms (FokI, ApaI and TaqI) associated with susceptibility to polycystic ovary syndrome (PCOS) and metabolic features of the disease?
Design: This case-control study included 46 women with PCOS and 48 controls. Genotypes of the VDR gene were determined using the polymerase chain reaction-restriction fragment length polymorphism method. Waist circumference, and parameters of lipid and glucose metabolism were evaluated in all women.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!