Prcis: The genetic risk score (GRS) of genetic variants associated with intraocular pressure (IOP) elevation, but not those associated with optic nerve vulnerability, was associated with a history of glaucoma surgery in Japanese patients with primary open angle glaucoma (POAG).
Objective: To investigate genetic variants associated with a history of glaucoma surgery in Japanese patients with POAG.
Methods: Japanese patients with POAG (n = 468), including normal tension glaucoma (n = 246) and high tension glaucoma (n = 222), and control subjects (n = 246) were genotyped for 22 genetic variants predisposing to POAG, which can be classified into those associated with IOP elevation (IOP-related genetic variants) and optic nerve vulnerability independent of IOP (optic nerve-related genetic variants). The unweighted and weighted GRSs of 17 IOP-related, 5 optic nerve-related, and all 22 genetic variants were calculated, and the association between the GRS and a history of glaucoma surgery was evaluated.
Results: There was a significant association (odds ratio 1.13 per unweighted GRS, 95% CI: 1.03 to 1.24, P = 0.0093) between IOP-related unweighted GRS and a history of glaucoma surgery. A significant association (odds ratio 1.09 per 0.1 weighted GRS, 95% CI: 1.04 to 1.14, P = 0.00022) was also found between IOP-related weighted GRS and a history of glaucoma surgery. The IOP-related GRS was positively correlated with the need for glaucoma surgery. The mean of IOP-related unweighted and weighted GRS in patients with POAG with a history of glaucoma surgery were significantly higher ( P = 0.013 and P = 0.00031, respectively) than those in patients with POAG without a history of glaucoma surgery.
Conclusions: IOP-related, but not optic nerve-related, genetic variants were associated with a history of glaucoma surgery in Japanese patients with POAG. These results indicate that IOP elevation induced by IOP-related genetic variants rather than optic nerve vulnerability induced by optic nerve-related genetic variants may play an important role in requiring glaucoma surgery.
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http://dx.doi.org/10.1097/IJG.0000000000002510 | DOI Listing |
J Hematop
January 2025
Mayo Clinic, Rochester, MN, USA.
Testicular follicular lymphoma (TFL) is an exceedingly rare lymphoma that typically occurs in young male patients and is now recognized as a distinct diagnostic entity in the International Consensus Classification. TFL shows some clinicopathologic and genetic overlap with pediatric-type follicular lymphoma (PTFL). We report a case of TFL occurring in an otherwise healthy 4-year-old boy who presented with painless scrotal swelling.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
Gastric Cancer
January 2025
Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Gyeonggi-Do, South Korea.
Background: Intestinal-type gastric cancer (IGC) and diffuse-type gastric cancer (DGC) exhibit different prevalence rates between sexes. While environmental factors like Helicobacter pylori infection and alcohol consumption contribute to these differences, they do not fully account for them, suggesting a role for host genetic factors.
Methods: We conducted a meta-analysis to explore associations between single nucleotide polymorphisms (SNPs) and the risk of IGC or DGC.
Expert Opin Drug Discov
January 2025
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It is caused by pathogenic variants in the and genes. Despite its significant disease burden, there are currently no approved therapies for KS, highlighting the need for advanced research and therapeutic development.
View Article and Find Full Text PDFCancer Med
February 2025
Department of Medical Oncology, IRCCS Ospedale San Raffaele, Milan, Italy.
Introduction: Pancreatic cancer arising in the context of BRCA predisposition may benefit from poly(ADP-ribose) polymerase inhibitors. We analyzed real-world data on the impact of olaparib on survival in metastatic pancreatic cancer patients harboring germline BRCA mutations in Italy, where olaparib is not reimbursed for this indication.
Methods: Clinico/pathological data of pancreatic cancer patients with documented BRCA1-2 germline pathogenic variants who had received first-line chemotherapy for metastatic disease were collected from 23 Italian oncology departments and the impact of olaparib exposure on overall survival (OS) was analyzed.
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