Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

摘要: Abstract Background Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease in infancy, affecting preterm children with low birth weight. The has a multifactorial aetiology significant genetic component; until now published association studies have identified several candidate genes but only few of these data been replicated. In this pilot study, we approached exome sequencing aimed at identifying non-common variants, which are expected to stronger phenotypic effect. Materials and methods We performed study on 26 Italian severely affected BPD unrelated newborns, homogeneously selected from large prospective cohort. used an Illumina HiSeq 2000 for sequencing. Data analysis was focussed previously associated susceptibility new candidates related pathways, highlighted by prioritization using ToppGene Suite. Results By sequencing, 3369 novel median 400 variations per sample. top were NOS2, MMP1, CRP, LBP toll-like receptor ( TLR ) family. All them confirmed Sanger Conclusions Potential discovered preliminary study; pathogenic role variants will need be functional segregation possibly further methods, able evaluate collective influence rare variants. Moreover, additional tested extended all children.