Publications by authors named "K Raraigh"
Rationale: Chronic () airway infection is common and a key contributor to diminished lung function and early mortality in persons with cystic fibrosis (PwCF). Risk factors for chronic among PwCF include cystic fibrosis transmembrane conductance regulator genotype, genetic modifiers, and environmental factors. Intensive antibiotic therapy and highly effective modulators do not eradicate in most adolescents and adults with cystic fibrosis.
View Article and Find Full Text PDFTo identify modifier loci underlying variation in body mass index (BMI) in persons with cystic fibrosis (pwCF), we performed a genome-wide association study (GWAS). Utilizing longitudinal height and weight data, along with demographic information and covariates from 4,393 pwCF, we calculated AvgBMIz representing the average of per-quarter BMI Z scores. The GWAS incorporated 9.
View Article and Find Full Text PDFInvestigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.
Am J Respir Cell Mol Biol
November 2024
We broaden the clinical versatility of human nasal epithelial (HNE) cells. HNEs were isolated from 10 participants harboring () variants: 9 with rare variants (Q359R [=2], G480S, R334W [=5], and R560T) and 1 harboring R117H;7T;TG10/5T;TG12. Cultures were differentiated at the air-liquid interface.
View Article and Find Full Text PDFArticle Synopsis
- The study examines sweat glands' ion transport in cystic fibrosis (CF) to better understand the relationship between sweat chloride levels, CFTR gene variations, and lung health.
- Researchers developed a new technique for culturing eccrine sweat gland (ESG) cells and analyzed their function using cutting-edge sequencing methods.
- Results show that ESGs from non-CF donors had effective ion transport, while those from CF patients displayed varying CFTR function depending on their specific gene mutations, illustrating the importance of genotype in disease severity and treatment response.
Background: Cystic fibrosis (CF) is caused by deleterious variants in each CFTR gene. We investigated the utility of whole-gene CFTR sequencing when fewer than two pathogenic or likely pathogenic (P/LP) variants were detected by conventional testing (sequencing of exons and flanking introns) of CFTR.
Methods: Individuals with features of CF and a CF-diagnostic sweat chloride concentration with zero or one P/LP variants identified by conventional testing enrolled in the CF Mutation Analysis Program (MAP) underwent whole-gene CFTR sequencing.