Identification of Genetic Variants Associated with Increased Severity of Pulmonary Disease

摘要

A method of determining a genetic component contributing to the severity of a pulmonary disease in a patient comprises determining the presence or absence of one or more single nucleotide polymorphisms (SNPs) in the Endothelin Receptor A (EDNRA) gene or the Interleukin-8 (IL-8) gene of the patient. The SNPs are rs5335 or rs1801708 for EDNRA, or rs4O73 for IL-8. The pulmonary disease may be cystic fibrosis or lymphangioleimyomatosis. Determining the presence or absence of one or more of SNPs rs5335 or rs1801708 in the EDNRA gene or rs4073 in the IL-8 gene of the patient may also be used in a method of treating a patient having a pulmonary disease. A kit may comprise one or more probes for determining the presence or absence of one or more of SNPs rs5335 and rs1801708 in the EDNRA gene or the SNP rs4073 in the IL-8 gene.