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Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium (2020)
Journal Article
Portelli, M. A., Dijk, F. N., Ketelaar, M. E., Shrine, N., Hankinson, J., Bhaker, S., …Sayers, I. (2020). Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium. JCI insight, 5(8), Article 132446. https://doi.org/10.1172/jci.insight.132446

The IL1RL1 (ST2) gene locus is robustly associated with asthma; however, the contribution of single nucleotide polymorphisms (SNPs) in this locus to specific asthma subtypes and the functional mechanisms underlying these associations remain to be def... Read More about Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium.

Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction (2014)
Journal Article
Wain, L. V., Sayers, I., Soler Artigas, M., Portelli, M. A., Zeggini, E., Obeidat, M., …Tobin, M. D. (2014). Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction. PLoS Genetics, 10(5), Article e1004314. https://doi.org/10.1371/journal.pgen.1004314

Chronic obstructive pulmonary disease (COPD) is a leading cause of global morbidity and mortality and, whilst smoking remains the single most important risk factor, COPD risk is heritable. Of 26 independent genomic regions showing association with l... Read More about Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction.