The Study Findings table contains information on the genetic findings of a particular NESHIE or CP genetic study. Variants with statistically-significant associations with NESHIE or CP have p-values < 0.05. Odds ratio values quantify the strength of association of a variant allele with NESHIE or CP.
Paper: Woodward et al., 2023
DOI: 10.1177/08830738221147805
Study population description: Canadian; 28 retrospective HIE cases treated at 2 level 3 neonatal intensive care units in Canada
Regional classification: America
Sequencing or genotyping methods: Whole exome sequencing (n=6), microarray (n=23), epilepsy-screening panel developed by Blueprint Genetics consisting of 416 genes (n=11)
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| rs78655421 | A allele | NESHIE | Cystic fibrosis confirmed in patient following genetic testing | Not determined | None | None |
| rs6471 | C allele | NESHIE | Congenital adrenal hypoplasia confirmed in patient following genetic testing | Not determined | None | None |
| rs727503974 | A allele | NESHIE | None | Not determined | None | None |
| SCN9A:c.4652G>A | None | NESHIE | None | Not determined | None | None |
| rs200286768 | A allele | NESHIE | None | Not determined | None | None |
| CDKL5:c.2388_2404DEL | - | NESHIE | None | Not determined | None | None |
| rs373882732 | G | NESHIE | None | Not determined | None | None |
| ISY1:c.607+G>A | None | NESHIE | None | Not determined | None | None |
| rs113993960 | - | NESHIE | Cystic fibrosis confirmed in patient following genetic testing | Not determined | None | None |