Table 1 Combined results of GWAS, WES and transcriptome datasets.

From: Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth

 

Method

Dataset name

Inclusion criteria

Heat shock protein genes

Nuclear Receptor Genes

Maternal genome

GWAS

23andMe

p < 1 × 10−4

DNAJB8, DNAJB14, DNAJC6, DNAJA3, SEC63

NR2F2, PPARG, RORA, THRA,

Nordic Meta

p < 1 × 10−4

DNAJB8, DNAJC1, DNAJC11

NR2F6

Nordic DNBC

p < 1 × 10−4

DNAJB14, DNAJC2

 

Nordic Fin

p < 1 × 10−4

MKKS

ESR1

Norwegian Mother, Father and Child Cohort (MoBa)

p < 1 × 10−4

DNAJA1, DNAJC17

RORA

WES

Northern Fin

MAF <10% and ACMG cat 1–3

SEC63, HSPA1L, HSPH1, SACS, DNAJC13, CCT7, HSPA4L, GAK

AR, NR1H4, NR3C1, NR1D2, PGR

Danish sibs

MAF < 1%

ODF1, HSPA1L, CCT6B, CLPB, DNAJB1, DNAJB12, DNAJC10, DNAJC6, HSPA5, HSPH1, HYOU1, SACS, DNAJB14, DNAJC5, DNAJC5B, HSPA13, HSPB8, TRAP1

AR, HNF4A, VDR, ESRRB, NR0B1, NR1D1, RARG, NR0B2, NR2F2, NR3C1, NR4A2, RORC

Infant genome

GWAS

Norwegian Mother, Father and Child Cohort (MoBa)

p < 1 × 10−4

DNAJC5B

 

Nordic Fin

p < 1 × 10−4

HSP90AA1

 

Nordic meta

p < 1 × 10−4

DNAJC12, CCT3

 

Northern Fin

p < 1 × 10−4

HSPA12B

 

WES

Northern Fin

MAF <10% and cat 1-3

SEC63, HSPA1L, HSPH1, SACS, DNAJC13, CCT7, HSPA4L, GAK, HSPA12A, HSP90AA1, CLPB, DNAJB13, DNAJC18, HSPD1

AR, NR1H4, NR3C1, ESR1, NR1H2, ESR2, HNF4G, VDR

Placenta

Transcript-omic

Northern Fin

p < 0.05

HSPA1A, HSPA1B, HSPA8, HSPA4L, DNAJB13, DNAJC5B, DNAJC11, DNAJC12, SEC63, DNAJC27, SACS, DNAJC30, HSP90AB1, HSP90B1, HSPD1, BBS10

NR113, NRID2, RARB, NR4A3, NR6A1, NXRA, NR2F6

Placental villous and decidual cells

p < 0.05

DNAJB7, HSPA7

AR, ESRRA, NR6A1, RORA

  1. Genes implicated in orthogonal datasets are underlined.
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