Table 2.
Genes and pathways (i.e., functional group) associated with telomere length
| Pathway | Gene | No. SNPs | No. sig. SNPs† |
Gene P | Pathway P |
|---|---|---|---|---|---|
| Shelterin | ACD | 5 | 0 | 0.307 | 0.52 |
| POT1 | 21 | 0 | 0.222 | ||
| TERF1 | 14 | 0 | 0.523 | ||
| TERF2 | 6 | 0 | 0.126 | ||
| TERF2IP | 4 | 0 | 0.819 | ||
| TINF2 | 5 | 0 | 0.549 | ||
|
| |||||
| DNA repair | ATM | 9 | 0 | 0.189 | 0.384 |
| MRE11A | 12 | 2 | 0.037 | ||
| NBN | 13 | 0 | 0.651 | ||
| RAD50 | 10 | 0 | 0.467 | ||
| RAD51AP1 | 10 | 0 | 0.877 | ||
| RAD51C | 6 | 0 | 0.429 | ||
| RAD51L1 | 142 | 3 | 0.552 | ||
| RAD51L3 | 8 | 1 | 0.299 | ||
| RAD54L | 9 | 1 | 0.17 | ||
| XRCC6 | 3 | 0 | 0.416 | ||
|
| |||||
| Helicase | BLM | 19 | 0 | 0.724 | 0.364 |
| DDX1 | 6 | 0 | 0.92 | ||
| DDX11 | 4 | 0 | 0.751 | ||
| PIF1 | 4 | 0 | 0.407 | ||
| RECQL | 27 | 5 | 0.124 | ||
| RECQL4 | 2 | 0 | 0.356 | ||
| RECQL5 | 4 | 1 | 0.035 | ||
| WRN | 27 | 0 | 0.856 | ||
|
| |||||
| Telomerase associated |
NOLA2 | 3 | 0 | 0.665 | 0.728 |
| NOLA3 | 13 | 1 | 0.367 | ||
| TEP1 | 21 | 1 | 0.506 | ||
| TERC | 1 | 0 | 0.17 | ||
| TERT | 8 | 1 | 0.474 | ||
|
| |||||
| Other | BICD1 | 92 | 3 | 0.321 | 0.058 |
| CLPTM1L | 5 | 2 | 0.074 | ||
| MAD1L1 | 63 | 11 | 0.182 | ||
| MEN1 | 4 | 4 | 0.006 | ||
| MYC | 6 | 0 | 0.319 | ||
| NOLA1 | 3 | 1 | 0.103 | ||
| PARP1 | 14 | 1 | 0.334 | ||
| PARP2 | 13 | 3 | 0.083 | ||
| PINX1 | 32 | 1 | 0.876 | ||
| PRKDC | 13 | 0 | 0.702 | ||
| RTEL1 | 8 | 1 | 0.448 | ||
| SIP1 | 3 | 0 | 0.316 | ||
| TNKS | 33 | 11 | 0.04 | ||
| TNKS2 | 9 | 0 | 0.726 | ||
| TERT | |||||
| Additional * | 29 | 0 | 0.523 | ||
No. = number;
†
Number of significant SNPs significantly associated with telomere length before correction by gene
*
All SNPs in an extended region around TERT and CLPTM1L