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Whole genome sequencing identifies CRISPLD2 as a lung function gene in children with asthma

Chest Nov 06, 2019

Kachroo P, Hecker J, Chawes BL, et al. - Researchers aimed at identifying regions of common genetic variation contributing to lung function in individuals with a diagnosis of asthma via assessing the whole-genome sequencing data for 1,053 individuals from trios and extended pedigrees participating in the family-based Genetic Epidemiology of Asthma in Costa Rica study. Findings suggest a plausible association between baseline FEV1/FVC ratio and a single-nucleotide polymorphism in the top hit cysteine-rich secretory protein LCCL domain-containing 2 (CRISPLD2) (rs12051168) that retained suggestive significance in the covariate-adjusted model. Specific asthma characteristics, such as airway hyperresponsiveness (AHR), seem to have the potential for supporting the identification of more genetically homogeneous asthma subgroups with genotype-phenotype associations that may not be observed in all children with asthma. In individuals with asthma who also may have AHR, the significance of CRISPLD2 was also suggested for baseline lung function.
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