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Haplotype association of the FBLN5 variants with PEX
| Risk haplotype “T–G–G” (rs929608–rs2430347–rs7149187) | Haplotype freq. | p-value | p-value† |
|---|---|---|---|
| Control | 0.22 | – | – |
| PEX combined | 0.28 | 0.007 | 0.03 |
| PEXS | 0.27 | 0.03 | 0.13 |
| PEXG | 0.30 | 0.01 | 0.05 |
Frequency of risk haplotype T–G–G (rs929608–rs2430347–rs7149187) in control (0.22) is significantly lower in comparison to PEX (0.28, p = 0.007), PEXS (0.27, p = 0.03), and PEXG (0.3, p = 0.01) individuals
†p-value after permutation correction where n = 10,000
