👤 Orhan Eser

Our study aimed to evaluate the genetic etiology of treatment-resistant nocturnal enuresis in children who have undergone at least 6 episodes of behavioral therapy, urotherapy, alarm therapy, and medical treatment. A total of 21 patients were included in the study. Inclusion criteria for the study comprised children aged 5-18 years diagnosed with treatment-resistant enuresis according to the International Children's Continence Society (ICCS) guidelines. The capture-based Sophia Hereditary Disease Panel by Sophia Genetics was used specifically for nocturnal enuresis, consisting of a panel of 19 genes (AGXT, AQP2, AVPR2, BNC2, CLCNKB, DLG3, ELN, FA2H, FAM20A, FOXP1, HPSE2, KCNJ10, MLXIPL, NPHP3, RNF168, SLC12A3, SLC25A13, SLC5A2, SMARCA2). Patients were analyzed for genetic variations in genes associated with nocturnal enuresis, including AGXT, AQP2, AVPR2, BNC2, CLCNKB, DLG3, ELN, FA2H, FAM20A, FOXP1, HPSE2, KCNJ10, MLXIPL, NPHP3, RNF168, SLC12A3, SLC25A13, SLC5A2, and SMARCA2. No pathogenic changes potentially explaining the etiology of the disease were detected in 20 patients. One patient exhibited a variant in the AQP2 gene at hg19:Chr12:50344908 exon 1, c.295G>A locus, classified as a Variant of Uncertain Significance (VUS) according to the American College of Medical Genetic and Genomics (ACMG) 2015 guidelines. The AQP2 gene is associated with autosomal dominant and autosomal recessive inherited nephrogenic diabetes insipidus (type 2) in the OMIM (Online Mendelian Inheritance in Man) database. Our study resembles studies indicating that nocturnal enuresis cases do not have a monogenic etiology but occur with multifactorial effects and have a weak correlation between genotype and phenotype. Show less

Body size and carcass traits are economically significant in livestock, contributing to productivity and meat quality improvement in breeding programs. Understanding the genetic basis of these traits can enhance selection strategies for livestock improvement. This research was carried out to identify genomic regions associated with body size and ultrasound carcass traits using the single-step genome-wide association study (ssGWAS) in Anatolian water buffaloes. Data consisted of wither height (WH), hip height (HH), body length (BL), chest width (CW), hip width (HW), chest circumference (CC), cannon-bone circumference (CBC), Musculus longissimus dorsi depth (MLDD), and subcutaneous fat thickness (SFT) records of 313 yearling buffaloes were used in the association analyses. Genotyping was carried out by using the 90 K Axiom Buffalo Genotyping array. Association analyses using genomic relationship matrix (GRM) were performed by WOMBAT software. Twenty SNPs were found to be genome-wide significant according to the FDR thresholds controlled at p < 0.01. Genes previously associated with body size and fat-related traits, including TRPC7, CEP290, KITLG, TMTC3, NELL2, DBX2, GLI2, BRINP1, TLR4, NYAP2, SORCS3, PIK3C3, LEP, RSPO2, and GTPBP4, were identified in this study. The identification of novel and previously associated genes could enhance genetic improvement, contributing to the understanding of the genetic basis of body morphology in buffaloes. Show less