A test to comprehensively capture the known genetic component of familial pulmonary fibrosis
The study aimed to develop a laboratory-developed test (LDT) based on standard Sanger sequencing to capture all known familial pulmonary fibrosis-associated variants. The new genetic test was evaluated in 62 sporadic cases of idiopathic pulmonary fibrosis. It was found that the MUC5B promoter variant rs35705950 was strongly enriched in these patients, with a minor allele frequency of 41.1%, compared with 10.6% in a matched population-based cohort from CARTaGENE.
Evaluation of Adiposity and Cognitive Function in Adults
Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.