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| http://dx.doi.org/10.1038/s41416-022-02080-2 | DOI Listing |
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9814235 | PMC |
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Biologically-targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.
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January 2025
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (A) known/plausible links to BE/EAC pathogenesis (n=493) or (B) prior evidence of biological interactions (n=4,196).
View Article and Find Full Text PDFLipids, lipid-lowering drugs and the risk of herpes zoster: a Mendelian randomization study.
Arch Dermatol Res
January 2025
Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Observational studies have shown that the risk of developing herpes zoster (HZ) increases with the use of statins. However, there are many confounding factors in observational studies. Therefore, our Mendelian randomization (MR) study aimed to explore the causal role of lipids in HZ and to assess the causal impact of lipid-lowering drug targets on HZ risk.
View Article and Find Full Text PDFShort-term Patient-Reported Outcomes Following Bilateral Risk-Reducing Mastectomy for Patients at a High Risk for Breast Cancer: A Systematic Review.
Ann Surg Oncol
January 2025
Department of Surgery, Duke University Medical Center, Durham, NC, USA.
Background: Bilateral risk-reducing mastectomies (RRMs) have been proven to decrease the risk of breast cancer in patients at high risk owing to family history or having pathogenic genetic mutations. However, few resources with consolidated data have detailed the patient experience following surgery. This systematic review features patient-reported outcomes for patients with no breast cancer history in the year after their bilateral RRM.
View Article and Find Full Text PDFCopy Number Variation in Asthma: An Integrative Review.
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January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFCausal relationship between psoriasis and sudden deafness: a Mendelian randomization study.
Arch Dermatol Res
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Tianjin Medical University, Tianjin, 300102, China.
Objective: This study aims to investigate the genetic link between psoriasis and sudden sensorineural hearing loss (SSNHL).
Methods: From a genetic standpoint, this study further highlighted the connection between psoriasis and SSNHL. Single nucleotide polymorphisms (SNPs) connected to SSNHL could be found using a genome-wide association study from the IEU OpenGWAS project website.
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