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Objective: In the era of postgenomic research, linkage- and association-based strategies are beginning to reveal novel complex disease genes. Using such an approach, a functional haplotype of the peptidylarginine deiminase 4 gene (PADI4) has recently been identified as a gene conferring susceptibility to rheumatoid arthritis (RA) in a Japanese population. In the present study, we investigated the association of single-nucleotide polymorphisms (SNPs) in the PADI4 gene with RA in a UK population.
Methods: Association with 4 exonic SNPs (padi4_89*G/A, padi4_90*T/C, padi4_92*G/C, and padi4_104*T/C), mapping to the PADI4 gene and defining a haplotype previously reported to be associated with RA, was investigated. Genotyping was performed using 5' allelic discrimination assays. Estimated haplotypes were generated using the expectation-maximization algorithm, and frequencies of the SNPs and haplotypes were compared between unrelated Caucasian RA patients from the UK (n = 839) and population controls (n = 481).
Results: Allele frequencies for the 4 SNPs in the UK population were similar to those reported in the Japanese control population, but none of these was associated with RA. As in the Japanese population, the SNPs in the UK population defined 2 major haplotypes, but neither was associated with RA (P = 0.79).
Conclusion: A PADI4 susceptibility haplotype associated with RA in a Japanese population is not associated with RA in a UK population. Other genes involved in the citrullinating pathway remain strong candidate RA-susceptibility genes and require further investigation.
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http://dx.doi.org/10.1002/art.20169 | DOI Listing |
Infect Dis Ther
December 2024
Department of Infectious Diseases, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.
Introduction: Despite the ongoing efforts to refine treatment durations and methods for patients with chronic pulmonary aspergillosis, the clinical use of antifungal agents remains unclear. This study aimed to describe the treatment practices, trajectories, and prognoses of newly diagnosed patients with chronic pulmonary aspergillosis.
Methods: Data from a longitudinal database from hospitals in Japan was used.
J Atheroscler Thromb
December 2024
Department of Cardiology, Tokyo Bay Urayasu Ichikawa Medical Center.
Aim: Few studies have evaluated the midterm prognosis of patients with intermittent claudication who underwent endovascular therapy (EVT) for femoropopliteal lesions. Therefore, we aimed to assess 2-year mortality and prognostic factors in these patients.
Methods: We retrospectively analyzed 947 patients who underwent EVT for intermittent claudication between January 2018 and December 2021 at eight Japanese cardiovascular centers.
Sci Total Environ
December 2024
Univ. Bordeaux, CNRS, Bordeaux INP, EPOC, UMR 5805, F-33600 Pessac, France.
In the context of increasing pollution pressure on aquatic ecosystems, it is essential to improve our knowledge of habitat quality and its suitability for organisms. It is particularly relevant to better integrate early life stages of fish into pollution biomonitoring programs, as they are reliable indicators of ecosystem integrity and because of their high sensitivity to pollutants. To avoid the influence of environmental parameters on their development, a lab-on-field approach, called the ex-situ exposure method, was developed.
View Article and Find Full Text PDFJ Environ Manage
December 2024
Botanical Garden, Institute of Nature and Environmental Technology, Kanazawa University, Kakumamachi, Kanazawa, Ishikawa, 920-1192, Japan.
Quaternary ammonium compounds (QACs), ecotoxic organic chemicals linked to multidrug resistance, are being used increasingly, for example to prevent the transmission of infections such as covid-19, in households, hospitals, and industry. To understand the locations, fluctuations, and fractions of QACs entering sewers, we monitored 14 QACs (benzalkonium chloride [BAC]-C8, C10, C12, C14, C16, and C18; dialkyldimethylammonium chloride [DDAC]-C8, C10, and C12; alkyltrimethylammonium chloride [ATAC]-C12, C16, and C18; benzethonium chloride; and cetylpyridinium chloride), and a disinfectant (chlorhexidine) in influent at four Japanese sewage treatment plants (STPs) five times throughout a year. Mass inflows were relatively stable throughout the year, indicating that the recent seasonal covid-19 epidemic did not greatly influence them.
View Article and Find Full Text PDFSchizophr Res
December 2024
Department of Preventive Intervention for Psychiatric Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Psychiatry, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan; Japan Health Research Promotion Bureau, Tokyo, Japan. Electronic address:
Background: Cognitive impairment is a cardinal feature in patients with schizophrenia and leads to poor social functioning. Recently, the treatment of schizophrenia has evolved to include the goal of improving quality of life (QoL). However, most of the factors influencing subjective QoL are unknown.
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