Table 5 Association of OXTR rare coding variants with preterm birth in Danish, Finnish, and U.S. populations
From: Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study
Position1 | Rare allele | Amino acid substitution | dbSNP ID | Population | |||
|---|---|---|---|---|---|---|---|
| Â | Â | Â | Â | Denmark2 | Finland2 | U.S.3 | |
| Â | Â | Â | Â | N=723 (case) / 920 (control) | N=105 (case) / 95 (control) | N=443 (case) / 34 (control) | |
| Â | Â | Â | Â | Mother | Mother | Mother | Infant |
8809843 | T | A11T | Â | 0.43 | - | - | - |
8809741 | A | V45L | Â | 0.51 | - | - | - |
8809552 | C | P108A | rs202138705 | - | 1.00 | - | - |
8809359 | G | V172A | rs115324487 | - | - | 1.00 | 1.00 |
8809267 | G | W203R | rs200498154 | - | - | N/A | N/A |
8809258 | C | L206V | rs150746704 | - | - | 1.00 | 1.00 |
8809243 | A | V211L | Â | 1.00 | - | - | - |
8809133 | T | A247A | Â | 1.00 | - | - | - |
8809119 | G | G252A | rs151141371 | 0.33 | 0.43 | - | - |
8809033 | T | V281M | rs144814761 | 0.44 | - | - | - |
All missense variants combined4 | 0.35 | 1.00 | 1.00 | 1.00 | |||