Ontology highlight
ABSTRACT:
SUBMITTER: Schweitzer KS
PROVIDER: S-EPMC7453886 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
JCI insight 20200723 14
Cigarette smoking (CS) and genetic susceptibility determine the risk for development, progression, and severity of chronic obstructive pulmonary diseases (COPD). We posited that an incidental balanced reciprocal chromosomal translocation was linked to a patient's risk of severe COPD. We determined that 46,XX,t(1;4)(p13.1;q34.3) caused a breakpoint in the immunoglobulin superfamily member 3 (IGSF3) gene, with markedly decreased expression. Examination of COPDGene cohort identified 14 IGSF3 SNPs, ...[more]