Association between inferred genetic ancestry and GATA1s mutations in newborns with DS
| Ancestry superpopulations . | GATA1s mutation VAF . | GATA1s mutation status (yes/no) . | ||
|---|---|---|---|---|
| OR (95% CI)∗ . | P value . | OR (95% CI)∗ . | P value . | |
| AFR | 0.906 (0.770-1.065) | .23 | 0.928 (0.834-1.032) | .17 |
| EAS | 0.817 (0.409-1.629) | .56 | 0.863 (0.521-1.430) | .58 |
| EUR | 0.968 (0.854-1.098) | .61 | 0.985 (0.917-1.059) | .69 |
| SAS | 1.211 (1.018-1.441) | .032 | 1.107 (1.010-1.214) | .031 |
| South Asian ancestry subpopulations | OR (95% CI)† | P value | OR (95% CI)† | P value |
| STU | 1.291 (0.986-1.690) | .064 | 1.147 (0.995-1.323) | .059 |
| ITU | 2.098 (1.166-3.774) | .014 | 1.517 (1.106-2.081) | .0097 |
| BEB | 1.377 (1.037-1.827) | .027 | 1.185 (1.021-1.377) | .026 |
| GIH | 1.215 (0.999-1.477) | .052 | 1.114 (1.004-1.235) | .041 |
| PJL | 1.380 (1.077-1.768) | .011 | 1.193 (1.046-1.361) | .0087 |
| Ancestry superpopulations . | GATA1s mutation VAF . | GATA1s mutation status (yes/no) . | ||
|---|---|---|---|---|
| OR (95% CI)∗ . | P value . | OR (95% CI)∗ . | P value . | |
| AFR | 0.906 (0.770-1.065) | .23 | 0.928 (0.834-1.032) | .17 |
| EAS | 0.817 (0.409-1.629) | .56 | 0.863 (0.521-1.430) | .58 |
| EUR | 0.968 (0.854-1.098) | .61 | 0.985 (0.917-1.059) | .69 |
| SAS | 1.211 (1.018-1.441) | .032 | 1.107 (1.010-1.214) | .031 |
| South Asian ancestry subpopulations | OR (95% CI)† | P value | OR (95% CI)† | P value |
| STU | 1.291 (0.986-1.690) | .064 | 1.147 (0.995-1.323) | .059 |
| ITU | 2.098 (1.166-3.774) | .014 | 1.517 (1.106-2.081) | .0097 |
| BEB | 1.377 (1.037-1.827) | .027 | 1.185 (1.021-1.377) | .026 |
| GIH | 1.215 (0.999-1.477) | .052 | 1.114 (1.004-1.235) | .041 |
| PJL | 1.380 (1.077-1.768) | .011 | 1.193 (1.046-1.361) | .0087 |
Significant associations (P < .05) are highlighted in bold.
Ancestry superpopulations: AFR, African; EAS, East Asian; EUR, European; SAS, South Asian.
South Asian subpopulations: BEB, Bengali in Bangladesh; GIH, Gujarati Indian in Houston, TX; ITU, Indian Telugu in the United Kingdom; PJL, Punjabi in Lahore, Pakistan; STU, Sri Lankan Tamil in the United Kingdom.
OR, odds ratio.
P values for GATA1s mutation VAF or mutation status calculated by linear or logistic regression tests, adjusting for sex, gestational age, and birth weight.
OR and 95% CIs calculated for each 10% increase in ancestry proportions.
OR and 95% CIs calculated for each 1% increase in ancestry proportions.