Table 1.
Minor allele frequency of the PHOX2B common variants found in IALTE and SUIDs/SIDSs cases.
| IALTE (n = 12) | SUIDs/SIDS (n = 7) | IALTE+SUIDs/SIDS (n = 19) | Ctrls (n = 71) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Minor allele | Minor allele | Minor allele | Minor allele | |||||||||
| ID | Variants§ | N | F | p-value | N | F | p-value | N | F | p-value | N | F |
| rs17885216rs114290493 | c.552C>T c.*161G>A | 2 | 0.08 | 0.05* | 2 | 0.14 | 0.02* | 4 | 0.1 | 0.007* | 1 | 0.014 |
| rs746486633 | 7 Ala contraction | 1 | 0.04 | 0.36 | 0 | 0 | na | 1 | 0.03 | 0.51 | 2 | 0.01 |
| TOT/cumulative frequency | 3 | 0.125 | 0.06 | 2 | 0.14 | 0.15 | 5 | 0.13 | 0.02* | 4 | 0.03 | |
§
Variant alleles of SNPs c.552C>T and c.
*
161G>A are in linkage disequilibrium; N, number of minor alleles; F, allele frequency; p-value, asterisks (*) indicate statistically significant values with respect to control samples; na, not assessable.