A Genome-Wide Association Study for Neonatal Diseases
A Genome-Wide Association Study for Neonatal Diseases
This is an observational study to identify genetic risks for neonatal diseases, necrotizing
 enterocolitis (NEC) using genome-wide association study (GWAS) and enterotype investigation.
 We hypothesize that specific genetic factors and microbiome could predispose preterm neonates
 for the development of NEC.
NEC is the most frequently encountered surgical emergencies and a life-threatening disease
 that predominantly affects preterm neonates. The incidence is estimated to be 7-10% in ver
 low birth weight (VLBW) neonates (Lin and Stoll, 2006; Neu and Walker, 2011). However, a
 significant proportion of affected neonates (20-30%) develops severe progressive disease with
 intestinal necrosis and complications resulting in gut perforation and peritonitis which
 require urgent surgical intervention (surgical cases) (Sharma et al., 2006). The mortality
 rate of surgical cases is high (25-50%), and may increase to 100% in patients with
 pan-necrosis of the bowel. Those neonates who survived often suffer severe morbidity,
 including short bowel syndrome, parenteral nutrition-associated cholestasis, poor physical
 growth and neurodevelopmental impairment (Neu and Walker, 2011; Salhab et al., 2004).
 However, the etiology and pathophysiology of NEC remain incompletely understood. The current
 knowledge has directed towards multiple predisposing factors which include prematurity,
 immature gut mucosa and host defense immunity, formula milk feeding and altered microbial
 colonization in the gut resulting in excessive inflammatory response, leading to irreversible
 intestinal cell death and gut necrosis (Neu and Walker, 2011; Chan et al., 2013). To date, no
 genetic risk markers or biomarkers are available for reliable prediction of neonates who are
 at high risk of developing NEC. Besides host genetic factors, gut bacteria have been reported
 to predispose neonates to disease risk (Mai et. al., 2011; Neu and Pammi, 2018).

 In this study, we shall conduct a GWAS on Chinese preterm neonates for identification of
 genetic risks for NEC and determine gut microbiome structure (enterotype) of NEC.
Inclusion Criteria:

 Chinese infants admitted in the neonatal unit (NNU)

 Exclusion Criteria:

 Refuse consent for study