Genome wide association study of Preserved Ratio Impaired Spirometry (PRISm)

Background: Preserved Ratio Impaired Spirometry (PRISm) is defined as FEV1 &lt;80% predicted, FEV1/FVC ≥0.70. PRISm is associated with respiratory symptoms and co-morbidities. Our objective was to discover novel genetic signals for PRISm and see if they provide insight into the pathogenesis of PRISm and associated co-morbidities.Methods: We undertook a genome-wide association study (GWAS) of PRISm in UK Biobank participants (Stage 1), and selected SNPs reaching genome-wide significance for replication in 13 cohorts (Stage 2). A combined meta-analysis of Stage 1 and Stage 2 was done to determine top SNPs. We used cross-trait Linkage Disequilibrium score regression to estimate genome-wide genetic correlation between PRISM and pulmonary and extra-pulmonary traits. Phenome-wide association studies of top SNPs was performed. Results: 22 signals reached significance in the joint meta-analysis, including four signals novel for lung function. A strong genome-wide genetic correlation (rg) between PRISm and spirometric COPD (rg = 0.62, p-value &lt;0.001) was observed, and genetic correlation with type II diabetes (rg = 0.12, p-value 0.007). PheWAS showed that 18 of 22 signals were associated with diabetic traits and 7 with blood pressure traits.Discussion: This is the first GWAS to successfully identify SNPs associated with PRISm. Four of the signals; rs7652391 (nearest gene MECOM), rs9431040 (HLX), rs62018863 (TMEM114) and rs185937162 (HLA-B) have not been described in association with lung function before, demonstrating the utility of using different lung function phenotypes in GWAS. Genetic factors associated with PRISm are strongly correlated with risk of both other lung diseases and extra-pulmonary co-morbidity.<br/

Predictors of Newborn Screening Utilization in Quezon City, Philippines

Newborn Screening (NBS) is a Philippine government program based on Republic Act 9288 for identification of neonates with genetic, metabolic, or infectious conditions, requiring provision of NBS to all newborns. Despite its passage, NBS provision is grossly underutilized in 2019. This study aims to identify factors influencing maternal utilization of NBS in two PhilHealth accredited Public tertiary hospitals in Quezon City. A sample of 399 mothers was obtained by multi-stage sampling. Logistic regression revealed that the factors that are associated with significant increase of maternal utilization of NBS were Hospital Offer (p \u3c 0.001; OR = 25.629), PhilHealth membership (p = 0.049; OR = 1.677) and Hospital Location (p = 0.001,OR = 2.365) A direct offer of NBS to individual mothers increased maternal utilization of NBS the most; however, PhilHealth membership and hospital systems also played a large role in patient compliance. It is recommended that hospitals assign specific hospital staff to actively offer and be responsible for newborn screening prior to discharge, and that PhilHealth coverage is ensured for all