RO5313534 / Roche - LARVOL DELTA

Cytokine Gene Variants Are Associated With Aerobic Fitness-Related, Hematological, and Metabolic Traits in Healthy Adults. (PubMed, Compr Physiol) - "This study examined whether five polymorphisms in interleukin-6 (IL6; rs1800795; rs1800796; rs1800797), interleukin-15 (IL15; rs1589241), and tumor necrosis factor-alpha (TNF-α; rs1800629) associate with physiological, biochemical, and performance-related traits in healthy adults...IL6 rs1800795 mainly associated with iron-related and hematological traits; TNF-α rs1800629 findings were model-dependent and inconsistent. IL15 CC/CT × TNF-α GG combination is exploratory, requiring independent replication."

Journal • Hematological Disorders • Oncology • IL15 • IL6 • TNFA

Genetic determinants of gestational diabetes mellitus in thai pregnant women: role of GCKR, CDKAL1, TCF7L2, NEDD1, and CMIP variants. (PubMed, Ann Med) - "After adjusting for maternal age and pre-pregnancy body mass index, polymorphisms in TCF7L2 (rs34872471, rs7901695, rs4506565, rs7903146, rs12243326, and rs12255372), NEDD1 (rs10431408, rs11830756, rs249579, rs249585, and rs4762339), CMIP (rs2306115 and rs201681534), CDKAL1 (rs4710942), GCKR (rs2293572 and rs2293571), and GCK (rs5883890) were significantly associated with the risk of GDM. Haplotype analysis demonstrated that the TCF7L2 rs12243326-rs12255372 CA haplotype was associated with a decreased risk of GDM (OR = 0.44, 95% CI: 0.23-0.81), while the NEDD1 rs249579-rs249585-rs4762339 GGT haplotype was associated with an increased risk of GDM (OR = 1.40, 95% CI: 1.08-1.82). These findings suggest that genetic variations in TCF7L2, NEDD1, CMIP, CDKAL1, GCK, and GCKR contribute to GDM susceptibility in the Thai population."

Journal • Diabetes • Gestational Diabetes • Inflammation • Metabolic Disorders • TCF7L2

Genetic association analysis of TCF7L2 common variants with type 2 diabetes risk within the Bushehr Elderly Health (BEH) program. (PubMed, J Diabetes Metab Disord) - "Four SNPs, rs7903146-T, rs34872471-C, rs35198068-C, and rs4506565-T showed the most robust significant associations with T2DM...This study highlights the significant role of TCF7L2 polymorphisms especially rs7903146 and related intronic variants in increasing T2DM risk among elderly Iranians. The online version contains supplementary material available at 10.1007/s40200-025-01720-7."

Journal • Diabetes • Metabolic Disorders • Type 2 Diabetes Mellitus • TCF7 • TCF7L2

Identification of potential susceptibility loci for non-small cell lung cancer through whole genome sequencing in circadian rhythm genes. (PubMed, Sci Rep) - "The A allele of FBXL21 rs2069868 (ORmeta = 0.86, 95%CI: 0.80-0.96, Pmeta = 4.78e-4), the T allele of CSNK1D rs147316973 (ORmeta = 0.76, 95%CI: 0.65-0.88, Pmeta = 5.93e-4), and the A allele of RORA rs1589701 (ORmeta = 0.94, 95%CI: 0.91-0.98, Pmeta = 3.40e-3) were associated with a lower risk of NSCLC, separately...Moreover, poorer survival was observed in patients with lower RORA and TEF expressions (log-rank P < 0.05). Our findings spotlight potential susceptibility loci within circadian rhythm pathway genes that modulate NSCLC carcinogenesis, which enriches the understanding of the genetic susceptibility of NSCLC in the Chinese population and provides a more solid basis for exploring the biological mechanism of circadian rhythm genes in NSCLC."

Journal • Lung Cancer • Non Small Cell Lung Cancer • Oncology • Solid Tumor • CSNK1D • CUL1 • FBXL2

Far from Futile: The Value of Perimortem Rapid Exome (ACMG 2024) - "TTN: c.104620_104623del (p.R34874Gfr*40), pathogenic variant, paternally inherited... Access to rapid genomic testing added value in the care of our patient in the perimortem period and could potentially have similar outcomes for others. For our patient's family, benefits of learning a result in the perimortem period included the ability to confirm a diagnosis and find closure without further investigations like autopsy, avoiding the need to be re-contacted or return to the medical center where their child died to discuss results, and improved coverage of testing compared to postmortem testing. Additionally, compared to autopsy, rapid genomic testing provides results in at least 1-2 weeks while autopsy can take 6-12 weeks to complete."

Atrial Fibrillation • Cardiomyopathy • Cardiovascular • Cholestasis • Congestive Heart Failure • Diabetes • Gestational Diabetes • Heart Failure • Hematological Disorders • Hepatology • Hypertension • Hypotension • Metabolic Disorders • Preventive care • Pulmonary Arterial Hypertension • Pulmonary Disease • Respiratory Diseases

Predicting Deleterious Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) of HRAS Gene and In Silico Evaluation of Their Structural and Functional Consequences towards Diagnosis and Prognosis of Cancer. (PubMed, Biology (Basel)) - "Stability analysis predicted rs1554885139, rs770492627, rs1589792804, rs730880460, rs104894227, rs104894227, and rs121917759 as unstable...Furthermore, Kaplan-Meier bioinformatics analyses indicated that the HRAS gene deregulation affected the overall survival rate of patients with breast cancer, leading to prognostic significance. Thus, based on these analyses, our study suggests that the reported nsSNPs of HRAS may serve as potential targets for different proteomic studies, diagnoses, and therapeutic interventions focusing on cancer."

Journal • Breast Cancer • Oncology • Sarcoma • Solid Tumor • HRAS

Novel Associations Between Interleukin-15 Polymorphisms and Post-training Changes of Body Composition Parameters in Young Nonobese Women. (PubMed, Front Physiol) - "Based on the important role of interleukin-15 (IL-15) in human metabolism and, in consequence, in body composition modulation, we examined whether rs1589241 and rs1057972 polymorphisms, analyzed individually or in combination, would influence the effects of a training program...Our data highlight novel associations between specific IL-15 genotype and different post-training changes of FM% and FFM parameters. The results suggest that harboring the rs1057972 A allele and/or the [T;A] haplotype is favorable for achieving specific positive training-induced body composition changes."

Clinical • Journal