Table 1. Mutational Burden Analysis Risk Genes. Seventeen gene
met nominal significance (P < 0.05) in the Hispanic
(top of table) or European ancestry (bottom of table) burden analysis.P values were calculated using a Fisher’s exact test. Human
neural tube expression status was annotated with data provided by the
authors of Krupp et al . 2012 (42). Abbreviations are as follows:
“EA” = European Ancestry, “MA” = Mexican-American, “cases with” =
number of myelomeningocele subjects with a qualifying rare variant in
this gene, “cases without” = number of myelomeningocele subjects
without a qualifying variant in this gene, “case RDVs” = number of
qualifying variants within this gene in the myelomeningocele population,
“ctrls with” = estimated number of gnomAD controls with a qualifying
rare variant in this gene, “ctrls without” = estimated number of
gnomAD controls without a qualifying rare variant in this gene, “ctrl
RDVs” = number of qualifying variants within this gene in the gnomAD
population, P = likelihood that the distribution occurred by
chance, OR = odds ratio, CI = confidence interval, NT = neural tube.
†Associated with NTD phenotype in mouse model(s).