Association analysis of ISL1 and PAX4 SNP haplotypes
| Gene | ISL1:1 | ISL1:5 | ISL1:6 | ISL1:7 | ISL1:2 | ISL1:3 | ISL1:4 | TDT*P value | Transmission (%) | Observed number of transmissions | Expected number of transmissions |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ISL1 | T | WT | A | A | G | C | A | 0.02 | 16.1 | 0.66 | 2.08 |
| ISL1 | T | WT | A | A | G | C | T | 0.04 | 30.6 | 1.04 | 1.70 |
| ISL1 | T | WT | G | A | G | C | T | 0.04 | 0.16 | 0 | 1.26 |
| ISL1 | C | WT | A | A | G | T | T | 0.02 | 65.0 | 36.9 | 28.4 |
| Gene | PAX4:1 | PAX4:2 | PAX4:3 | TDT*P value | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| PAX4 | T | C | C | 0.001 | 6.6 | 0.59 | 4.5 | ||||
| PAX4 | C | T | C | 0.05 | 52.9 | 330.9 | 312.5 |
* TDT analysis was performed using the TRANSMIT program. Because the number of transmissions are also estimated when there is not complete information in the family, the number of observed transmissions are not always integers. For ISL1 markers, haplotypes formed by 2, 3, 4, 5, and 6 markers were also analyzed, which resulted in the same haplotypes being associated as shown above. For PAX4 markers, haplotypes formed by two markers were also analyzed, resulting in the same haplotypes being associated as shown above.