Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis. - PubMed - NCBI
Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.
Kropski JA1,
Young LR2,
Cogan JD3,
Mitchell DB4,
Lancaster LH5,
Worrell JA6,
Markin C7,
Liu N8,
Mason WR9,
Fingerlin TE10,
Schwartz DA11,
Lawson WE12,
Blackwell TS13,14,15,16,
Phillips Iii JA17,18,
Loyd JE19.
Abstract
Over the past decade, there has been increasing recognition that genetic factors play important roles in both sporadic and familial cases of idiopathic pulmonary fibrosis (IPF). Current data indicate that at least 1/3 of the risk to develop sporadic or familial IPF can be explained by common genetic variants identified through large genome-wide association studies. Interestingly, several of these loci appear to have prognostic implications for patients with IPF. In addition to common variants, a growing number of genes carrying rare genetic variants are being identified that influence susceptibility to disease in familial interstitial pneumonia (FIP), the familial form of IPF. As of yet, there is no guidance for clinicians regarding when to pursue genetic testing in IPF patients or how to utilize test results in patient care. Below, we offer our perspective on the current utility of genetic evaluation and testing in familial and sporadic IPF, as well as individuals at risk for development of IPF. Continued research investigating the genetic underpinnings of IPF is needed to support future development and validation of more comprehensive, evidence-based guidelines for genetic testing and screening for IPF. KEYWORDS:
Familial Interstitial Pneumonia; Genetics; IPF; Personalized medicine; Telomere
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