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: Chopra et al., 2022
DOI: 10.1002/acn3.51506
Study population description: Caucasian (33), African American (3), Asian (4), Other (2), Unknown (7); 50 participants from the Boston Children's Hospital CP Sequencing Study (2 quads, 26 trios, 18 duos, 3 probands, 1 other)
Regional classification: Africa, East Asia, Europe
Sequencing or genotyping methods: Whole exome sequencing
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| NM_001845.4:c.443G>A | T allele | CP | Spastic, non-cryptogenic (predefined risk factors) | Not determined | None | None |
| NM_020988.2:c.625C>T | T allele | CP | Spastic diplegic, cryptogenic (no predefined risk factors) | Not determined | None | None |