Table 4. Results of transmission disequilibrium testing for SNPs with nominal p<0.05.
| Gene | SNP | Role | Overtransmitted allele (other allele) | Minor allele frequency genotyped (minor allele) | Number of fully genotyped trios | Transmission: non-transmissions to affected offspring | Chi Square | Nominal p value | Permutation p value * |
|---|---|---|---|---|---|---|---|---|---|
| ESRRA | rs2276014 | Coding | C (T) | 0.09 (T) | 52 | 19:6 | 6.76 | 0.0093 | 0.0575 |
| CFTR | rs1800130 | Coding | A (G) | 0.051 (G) | 53 | 8:1 | 5.444 | 0.0196 | 0.3451 |
| CFTR | rs713134 | Promoter | C (T) | 0.413 (C) | 52 | 36:19 | 5.255 | 0.0219 | 0.3703 |
| LPLUNC1 | rs11906665 | Promoter | A (G) | 0.076 (G) | 51 | 16:1 | 13.235 | 0.0003 | 0.0062 |
| LPLUNC1 | rs6057807 | Promoter | C (T) | 0.04 (T) | 56 | 12:2 | 7.143 | 0.0075 | 0.2106 |
| LPLUNC1 | rs8118559 | Promoter | C (T) | 0.03 (T) | 53 | 11:2 | 6.231 | 0.0126 | 0.3393 |
| LPLUNC1 | rs8118144 | Promoter | G (A) | 0.03 (A) | 57 | 12:3 | 5.4 | 0.0201 | 0.4677 |
| LPLUNC1 | rs17124508 | Promoter | T (G) | 0.03 (G) | 57 | 12:3 | 5.4 | 0.0201 | 0.4677 |
| LPLUNC1 | rs17307318 | Promoter | A (G) | 0.03 (G) | 57 | 12:3 | 5.4 | 0.0201 | 0.4677 |
| LPLUNC1 | rs6057810 | Promoter | T (C) | 0.03 (C) | 56 | 12:3 | 5.4 | 0.0201 | 0.4677 |
| LPLUNC1 | rs4398335 | Intron | G (A) | 0.03 (A) | 56 | 12:3 | 5.4 | 0.0201 | 0.4677 |
| LPLUNC1 | rs8115852 | Promoter | G (T) | 0.02 (T) | 55 | 10:2 | 5.333 | 0.0209 | 0.4809 |
*
Results of 100,000 cycles of permutation testing performed in Haploview v. 4.1