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: Matthews et al., 2019
DOI: 10.1038/s41436-018-0376-y
Study population description: Caucasian (European, Romanian, North European, Bulgarian, French), Asian (Chinese,Filippino, Malaysian), Middle Eastern (Iraq, Iran, Afghanistan, Saudi-Arab, Pakastani), African (Sudan, Somali), Mixed, Ashkenazi, First Nations, Greek, Latin American; 50 patients with atypical presentations of CP recruited from three tertiary centers in Canada
Regional classification: Europe, Africa, East Asia, South Asia
Sequencing or genotyping methods: Next generation sequencing (exome sequencing)
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| rs79704487 | T allele | CP | Intellectual disability, evidence of findings not typical of classical CP (stroke, brain iron accumulation, atypical white matter lesions of other structural findings) | Susceptibility | None | None |