TABLE 3.
Gene identified from the sequence kernel-based association analysis of rare missense protein-altering variants in exome sequencing data of children with biliary atresia enrolled in the National Birth Defects Prevention Study, 1997–2011.
| Gene | No. rare variants | Case cumulative AAFa | Control cumulative AAFa | SKAT p-value (adjusted*) |
|---|---|---|---|---|
| IFRD2 | 21 | 0.004 | 0.002 | 3.75 × 10−6 (0.03) |
Abbreviations: AAF, alternate allele frequency; SKAT, sequence-based kernel association test.
a
Cumulative AAF was calculated as the total alternate allele count over the total allele number across all variants in a gene within each cohort.
*
p-Values adjusted for multiple testing using Bonferroni correction.