Panic disorder (PD) is an anxiety disorder characterized by recurrent and unexpected panic attacks, subsequent worry and phobic avoidance. Although a number of association and linkage studies have been conducted, no gene has been identified as a susceptibility locus. We previously conducted a genome-wide association analysis of PD in 200 Japanese patients and the same number of controls, using a 500 K single nucleotide polymorphisms (SNPs) chip. In this study, we report a replication analysis of PD using the DigTag2 assay. The second stage sample consisted of 558 Japanese patients and 566 controls. Thirty-two markers were tested in a replication sample. As a result, no significant association was found after correction for multiple testing. However, the difference was observed at the nominal allele P-value <0.05 for two SNPs (rs6733840 and rs132617). We also conducted haplotype analyses of SNPs in the APOL3 and CLU genes. Our results failed to show any significant association with PD in these genes. Further studies on these variants with a larger sample size may be worth testing to confirm the results.
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http://dx.doi.org/10.1038/jhg.2009.127 | DOI Listing |
Mol Psychiatry
January 2025
Department of Psychological Medicine and Clinical Neuroscience, Cardiff University, United Kingdom and UK Dementia Research Institute at Cardiff, Cardiff University, Cardiff, UK.
In this perspective we draw together the data from the genome wide association studies for Alzheimer's disease, Parkinson's disease and the tauopathies and reach the conclusion that in each case, most of the risk loci are involved in the clearance of the deposited proteins: in Alzheimer's disease, the microglial removal of Aβ, in the synucleinopathies, the lysosomal clearance of synuclein and in the tauopathies, the removal of tau protein by the ubiquitin proteasome. We make the point that most loci identified through genome wide association studies are not strictly pathogenic but rather relate to failures to remove age related damage. We discuss these issues in the context of copathologies in elderly individuals and the prediction of disease through polygenic risk score analysis at different ages.
View Article and Find Full Text PDFInt Dent J
January 2025
Department of Prosthodontics, Taiyuan Conatant lun Dental Hospital, Taiyuan, 030001, Shanxi, China.
Introduction And Aims: Epidemiological observational studies have explored the link between bone joint-related diseases and temporomandibular disorders (TMD), but inconsistent conclusions have emerged due to various limitations. This study aims to investigate the causal relationship between bone joint-related diseases and TMD using Mendelian randomization (MR).
Methods: We utilized a two-sample MR design, applying pooled genome-wide association study (GWAS) data from six subtypes of bone and joint diseases and TMD.
Trends Genet
January 2025
Centre for Psychology and Evolution, School of Psychology, University of Queensland, Queensland, Australia.
Thanks to twin studies, it has been known for decades that human same-sex sexual behavior (SSB) has a substantial heritable component. However, only recently have large genome-wide association studies (GWAS) begun to illuminate the complex genetics involved. These studies have established that SSB is influenced by many common genetic variants, each with tiny but cumulative effects.
View Article and Find Full Text PDFThorax
January 2025
Genome Medicine Laboratory, Institute of Biomedicine (iBiMED), Department of Medical Sciences, University of Aveiro, Aveiro, Portugal
Objective: Reduced functional capacity and muscle weakness are two major contributors to functional impairment in chronic obstructive pulmonary disease (COPD). The underlying causes of functional impairment are poorly understood and, therefore, we sought to investigate the contribution of genetic factors.
Methods: We conducted a cross-sectional analysis of sociodemographic, clinical and genetic information of people with COPD.
Gene
January 2025
Hangzhou Women's Hospital, Hangzhou, Zhejiang, China. Electronic address:
Pelvic floor disorder (PFD) is a common gynecological disorder, and with the ageing of the population, PFD has a serious impact on the physical and mental health of patients and their quality of life. The most prominent of these are pelvic organ prolapse (POP) and urinary incontinence (UI), about which the etiology is still unclear, and it is urgent to explore their pathogenesis. Advances in genetics and epigenetics have provided new insights into the pathophysiology of PFD.
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