Table 1.
Summary of genome-wide studies of PTB
| Design | N | Major findings | References |
|---|---|---|---|
| Case–control GWAS | 2,000 mothers | rs12682166 associated with PTB | 51 |
| Case–control GWAS | 2,000 neonates | No association after multiple test correction | 52 |
| Case–control GWAS | 1,919 mothers; 1,964 neonates | rs17527054 (RNASET2) and rs3777722 (MHC) associated with PTB in neonates; no associations in mothers | 48 |
| Admixture study in cases | 177 mothers | 7q21–22 identified as associated with PTB | 54 |
| Family-based linkage and | 120 mothers | 15q26.3 linked to PTB; haplotype analysis indicated IGF1R; | 14 |
| case–control association | 348 mothers; 334 neonates | IGF1R haplotype associated in neonates but not mothers | |
| Family-based linkage and | 89 family members | Xq13.1 (rs6525299) linked to PTB: androgen receptor repeat | 56 |
| case–control association | 473 mothers; 468 neonates | associated with PTB in neonates | |
| EWAS | 39 mothers; 39 neonates | Identified CpG sites that correlate between mother and neonate, some of which are specific to PTB pairs | 69 |
Abbreviations: GWAS, genome-wide association study; EWAS, epigenome-wide association study; MHC, major histocompatibility complex; IGF1R, insulin-like growth factor receptor 1; PTB, preterm birth; RNASET2, ribonuclease T2.