Although the pathogenesis of endometriosis is not well understood, genetic factors have been considered to have critical roles in its etiology. Through a genome-wide association study and a replication study using a total of 1,907 Japanese individuals with endometriosis (cases) and 5,292 controls, we identified a significant association of endometriosis with rs10965235 (P = 5.57 x 10(-12), odds ratio = 1.44), which is located in CDKN2BAS on chromosome 9p21, encoding the cyclin-dependent kinase inhibitor 2B antisense RNA. By fine mapping, the SNP showing the strongest association was located in intron 16 of CDKN2BAS and was implicated in regulating the expression of p15, p16 and p14. A SNP, rs16826658, in the LD block including WNT4 on chromosome 1p36, which is considered to play an important role in the development of the female genital tract, revealed a possible association with endometriosis (P = 1.66 x 10(-6), odds ratio = 1.20). Our findings suggest that these regions are new susceptibility loci for endometriosis.
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http://dx.doi.org/10.1038/ng.612 | DOI Listing |
J Neurophysiol
January 2025
Department of Anesthesiology, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.
Despite a significant genetic component to insomnia (heritability: 22-25%), the genetic loci that modulate insomnia risk remain limited. We employed the Unified Test for Molecular Markers (UTMOST) for transcriptome-wide association studies (TWAS) across various tissues, integrating summary statistics from a Genome-Wide Association Study (GWAS) of 462,341 European participants with gene expression data from the Genotype-Tissue Expression (GTEx) project. Three validation methods (FUSION, FOCUS, and MAGMA) were used to confirm important genes.
View Article and Find Full Text PDFMicrobiol Spectr
December 2024
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Vaginitis is the most common problem afflicting women of childbearing age. However, the underlying etiological factors remain poorly understood, leading to recurrent vaginitis and constraining clinical management. Here, we explored whether the gut microbiota influences the risk of vaginitis by performing a two-sample Mendelian randomization analysis using the largest genome-wide association studies to date.
View Article and Find Full Text PDFFood Funct
January 2025
School of Public Health, Zhejiang Chinese Medical University, Hangzhou, China.
. Previous observational studies have provided inconsistent evidence for the association between serum iron status and the risk of gout. Moreover, it remains uncertain whether the observed association is causal or due to confounding or reverse causality.
View Article and Find Full Text PDFNutr Cancer
January 2025
Department of Medical Oncology, Fujian Medical University Union Hospital, Fuzhou, Fujian, China.
Background: Ovarian cancer is a lethal female cancer with a rising incidence that is often diagnosed late due to a lack of symptoms, affecting survival and quality of life. Studies suggest that dietary factors, especially the levels of branched-chain amino acids such as valine, may influence its development. While valine is essential for metabolism, its specific role in ovarian cancer remains unclear, necessitating further research.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
January 2025
Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Externalizing traits and behaviors are broadly defined by impairments in self-regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories. In this study, we sought to generate an algorithm that could reliably identify transdiagnostic childhood-onset externalizing cases and controls within a university hospital electronic health record (EHR) database.
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