TABLE 6.
Pooled effect size for the association between rs1801198 and primary risk of congenital abnormalities
| Congenital abnormality | Cases, n | Controls, n | OR (95% CI)1 | P1 | I2 (95% CI),2 % | P3 |
| CC/CG + GG | ||||||
| Spontaneous abortion and female infertility | 148/640 | 400/1322 | 0.700 (0.433, 1.131) | 0.15 | 69.58 (12.40, 89.44) | 0.02 |
| Neural tube defects | 134/739 | 211/1157 | 0.894 (0.694, 1.152) | 0.39 | 0.00 (0.00, 63.65) | 0.71 |
| Cleft lip | 300/1006 | 343/1190 | 1.112 (0.863, 1.433) | 0.41 | 42.63 (0.00, 82.70) | 0.16 |
| Down syndrome | 134/362 | 190/516 | 1.030 (0.774, 1.370) | 0.84 | 0.00 (0.00, 84.05) | 0.49 |
| Whole analysis4 | 722/2771 | 1153/4232 | 0.951 (0.819, 1.104) | 0.51 | 31.32 (0.00, 61.75) | 0.11 |
| GG/CG + CC | ||||||
| Spontaneous abortion and female infertility | 151/640 | 264/1322 | 1.241 (0.957, 1.610) | 0.10 | 0.00 (0.00, 36.13) | 0.90 |
| Neural tube defects | 274/739 | 408/1157 | 1.176 (0.863, 1.602) | 0.30 | 41.92 (0.00, 78.62) | 0.14 |
| Cleft lip | 221/1006 | 267/1190 | 0.901 (0.624, 1.300) | 0.58 | 62.84 (0.00, 89.38) | 0.07 |
| Down syndrome | 65/362 | 88/516 | 1.081 (0.607, 1.923) | 0.80 | 59.80 (0.00, 86.59) | 0.06 |
| Whole analysis4 | 716/2771 | 1037/4232 | 1.086 (0.928, 1.272) | 0.30 | 32.90 (0.00, 62.60) | 0.09 |
1
Random-effect model according to the DerSimonian and Laird procedure (22).
2
I2 is the percentage of observed total variation across studies that was due to real heterogeneity rather than to chance (24).
3
Significance for heterogeneity was assessed with the use of the χ2-based Q statistic (24).
4
Study by Mills et al. (52) that assessed the association with the primary risk of omphalocele was included in the whole analysis but not in subgroup analyses because of a lack of other studies on omphalocele.