We report further evidence for our previous suggestion [Garner et al., 2001: Am J Hum Genet 68:1061-1064] of a locus on 5q predisposing to bipolar I disorder (BP-I) in an extended Costa Rican pedigree. We genotyped additional microsatellite markers in this region and applied a multi-point non-parametric linkage analysis (SimWalk2). Significant identity-by-descent allele sharing among affected relatives was observed for all of the 20 markers tested in a segment of approximately 15 cM. Most affected individuals shared a single haplotype over this region; breaks within this haplotype may suggest a more restricted candidate location for a BP-I gene. These results support the suggestion that a locus at 5q31-33, together with a previously reported locus at 18q22-23, may provide the major genetic risk for BP-I in this family.
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http://dx.doi.org/10.1002/ajmg.b.20091 | DOI Listing |
Neurology
February 2025
Department of Integrated Traditional Chinese and Western Medicine, The Third Affiliated Hospital of Soochow University, Changzhou, China.
Background And Objectives: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme that regulates folate and homocysteine metabolism. Genetic variation in has been implicated in cerebrovascular disease risk, although research in diverse populations is lacking. We thus aimed to investigate the effect of genetically predicted MTHFR activity on risk of ischemic stroke (IS) and its main subtypes using a multiancestry Mendelian randomization (MR) approach.
View Article and Find Full Text PDFPLoS One
January 2025
Division of Life Science, Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong, China.
Coronary artery disease (CAD) is a multigenic condition influenced by both nature and nurture (60% to 40%). Prognosis of CAD is based on familial patterns. This study examined and analyzed the susceptibility of CAD to genetic variants in various Pakistani families.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Computer Science and Engineering at Hanyang University ERICA, Ansan-si, Gyeonggi-do, South Korea.
Privacy-preserving record linkage (PPRL) technology, crucial for linking records across datasets while maintaining privacy, is susceptible to graph-based re-identification attacks. These attacks compromise privacy and pose significant risks, such as identity theft and financial fraud. This study proposes a zero-relationship encoding scheme that minimizes the linkage between source and encoded records to enhance PPRL systems' resistance to re-identification attacks.
View Article and Find Full Text PDFTransl Vis Sci Technol
January 2025
Department of Otolaryngology & Head and Neck Surgery, Wuhan No.1 Hospital, Wuhan, Hubei, China.
Purpose: Previous researches have suggested an important association between gut microbiota (GM) and vascular pathologies such as atherosclerosis. This study aimed to explore the association between 196 GM taxa and retinal vein occlusion (RVO).
Methods: This study used Mendelian randomization (MR), linkage disequilibrium score regression (LDSC), and polygenic overlap analysis.
Chemistry
January 2025
Yamaguchi University, Department of Chemistry, 753-8512, Yamaguchi, JAPAN.
We report herein the synthesis of an unprecedented isomer of perylene, dicyclohepta[cd,fg]-as-indacene bearing two phenyl groups (1-Ph) by the nickel-mediated intramolecular homocoupling of a 4,4'-biazulene derivative (2). The X-ray crystallographic analysis and theoretical calculations revealed that 1-Ph adopts a unique helically twisted geometry although the local aromaticity of azulene moieties was preserved. The double covalent linkage of the two azulene skeletons imparts significant orbital interaction, which affords near-infrared (NIR) absorption (up to 1720 nm) and remarkable redox behaviors despite its closed-shell electronic structure.
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