Current Issue : April-June Volume : 2026 Issue Number : 2 Articles : 5 Articles
Objective: To analyze the association between the IRF5 gene variants rs3807135, rs3757385, and rs3778754 and mRNA expression levels in patients from western Mexico diagnosed with melanoma. Methods: An analytical cross-sectional study was conducted including 374 individuals (153 patients with newly diagnosed melanoma and no previous treatment, and 221 controls). The melanoma group was matched to the reference group. Genotyping of the rs3807135 (T>C), rs3757385 (T>G), and rs3778754 (C>G) variants was performed using the allelic discrimination method with TaqMan® probes. Relative mRNA expression was quantified by qPCR using the 2–ΔΔCT method, comparing IRF5 expression levels with those of the housekeeping gene GAPDH. Statistical analyses were performed in R, and allelic and genotypic frequencies were compared between patients and controls using the Chi-square test. Results: No statistically significant associations were identified between IRF5 SNVs rs3807135, rs3757385, and rs3778754 and melanoma risk. The haplotypic pattern comprised TTC, CGG, and CGC, with CGG showing a non-significant protective tendency. The mean relative expression of IRF5 was lower in melanoma patients compared with controls (≈0.39 vs. 1.0; Δ = 0.61), although this difference did not reach statistical significance (U = 1725; p = 0.841). These findings suggest a modest modulatory effect of IRF5 at the haplotypic level, likely driven by combined variant effects. Conclusions: In conclusion, the present study did not identify statistically significant associations between the IRF5 single-nucleotide variants rs3807135, rs3757385, and rs3778754 and melanoma risk in the analyzed population from western Mexico. Likewise, no significant differences in allele or genotype distributions were observed between melanoma patients and control individuals. These findings suggest that the evaluated IRF5 genetic variants do not constitute major susceptibility factors for melanoma in this cohort....
Purpose of the review A rapidly growing body of research over the past two decades has made it increasingly clear that acute recurrent (ARP) and chronic (CP) pancreatitis in pediatric patients are distinct from these disease processes in adults, with drastically different risk factor profiles and underlying etiologies. While diagnostic and therapeutic approaches are adapted from adult patients, they should be applied differently in children. The aim of this review is to review the role of genetic variants in pediatric ARP and CP as well as current diagnostic and therapeutic approaches. When possible, we highlight how the genetic etiologies of pediatric ARP and CP may impact the diagnostic and therapeutic approach and discuss priorities for future research. Recent findings Pediatric patients with ARP and CP are more likely than their adult counterparts to have significant genetic variants affecting their risk for pancreatitis attacks and progression from ARP to CP. Some genetic variants such as CFTR or SPINK1 appear to have phenotypic associations amenable to existing medications or procedures; however, targeted medical therapies based on genetic variants remain elusive. As interventional endoscopic and surgical techniques become more widely available in pediatrics, there may be a greater role for their use in ARP and CP. Summary Pediatric ARP and CP are lifelong diseases with significant negative effects on the health and wellbeing of patients throughout the life span as well as their families. Clear genetic and etiologic pathways have been elucidated, and now there is a dire need for targeted therapies to reduce this morbidity. In the meantime, interventional therapeutics are becoming more widely available but should be applied judiciously. As we better understand genetic risk factors and therapeutic options, there is hope to provide tailored therapeutic modalities to each patient....
While chronic alcohol consumption is an established risk factor for lipid metabolic dysregulation, the underlying genetic mediators remain largely elusive. This study investigated the synergistic impact of CCDC63 (coiled-coil domain containing 63) polymorphisms and alcohol intake on dyslipidemia risk within a Korean cohort. Leveraging data from the KARE study (N = 6655; 4327 dyslipidemia cases vs. 2328 controls), we analyzed SNPs across the CCDC63 locus via Affymetrix SNP Array 5.0. Logistic regression, adjusted for age and sex, was performed to evaluate genotype–phenotype association and gene–environment interactions induced by alcohol exposure duration. Three intronic variants (rs10849915, rs11065756, and rs2238149) were significantly associated with dyslipidemia (OR ≥ 1.15, p < 0.005). Notably, stratified analysis revealed a clear gene–environment interaction. In ever-drinkers, the G-allele of rs10849915 was significantly associated with a higher risk of dyslipidemia (OR = 1.23, p < 0.05), significantly lower γ-GTP levels (β = −8.08), and reduced HDL (β = −1.42). However, no such genetic associations were observed in the non-drinking group (p > 0.05 for all traits). Our findings demonstrate that CCDC63 variants specifically modulate lipid metabolism and hepatic enzyme levels in an alcoholdependent manner. The paradoxical association—lower γ-GTP yet higher dyslipidemia risk in drinkers—suggests that CCDC63 plays a critical role in the complex interplay between alcohol exposure and systemic lipid homeostasis....
Human preimplantation embryo arrest (PREMBA) represents a significant clinical hurdle in assisted reproductive technology (ART), in which approximately 10% of in vitro fertilized (IVF) embryos arrest at the cleavage stages. Whole-exome sequencing (WES) studies have discovered numerous genetic mutations associated with preimplantation embryo arrest. These mutations often disrupt critical biological milestones such as maternal mRNA clearance (BTG4, ZFP36L2, ZAR1), subcortical maternal complex (TLE6, PADI6, OOEP, NLRP2, NLRP5, NLRP7, KHDC3L), DNA double-strand break formation and homologous recombination (REC114, TOP6BL, MEI1, MEI4, TRIP13), spindle assembly (TUBB8 and TUBA4A) and cell cycle and checkpoints (FBXO43, MOS, CHEK1, TRIP13, CDC20), as well as nuclear transport and translational regulation (KPNA7, DDOST). However, the cause of most clinical cases remains genetically unexplained. Studies investigating these unexplained arrests have uncovered widespread multi-omics abnormalities, including transcriptional arrest, DNA hypermethylation, higher chromatin accessibility, aberrant histone modification, chromosomal aneuploidy and senescent-like states. This review provides a comprehensive overview of the molecular mechanisms underlying PREMBA, categorized into those that are attributable to known genetic mutations and those with unexplained reasons....
Beta ketothiolase deficiency is a hereditary metabolic disorder caused by the pathogenic variants of the ACAT gene, which encodes for the mitochondrial enzyme acetoacetyl- CoA thiolase. Patients with a deficiency of the enzyme experience recurrent episodes of metabolic ketoacidosis. Knowledge of the clinical course of this entity, together with the available diagnostic tests, allows for its early diagnosis and prompt intervention to avoid complications or death of the infant. In this study, we present a case of a 9-month-old girl that attended the emergency room and diagnosis was made at the first episode of metabolic ketoacidosis....
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