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Table 6 Environmental exposure during pregnancy and maternal and child outcomes: gene–environment interactions (only significant) in the literature after 2017 in the Hokkaido Study on Environment and Children’s Health

From: Hokkaido birth cohort study on environment and children’s health: cohort profile 2021

Environmental exposure during pregnancy

Maternal (M) or child (C) outcome

Maternal (M) or child (C) polymorphism

Maternal or child risk genotype

Change in the outcome

Ref.

Dioxin-like polychlorinated biphenyl (PCB)

(M: Dioxin-like PCB’s concentration)

M: AHR (G>A, Arg554Lys)

GA/AA

Concentration ↑

[67]

Dioxin and dioxin-like PCB

(M: Dioxin and dioxin-like PCB’s concentration)

M: CYP1A1 (T>C; MspI)

TT/TC

Concentration ↑

[67]

Active smoking (based on questionnaire)

C: Reduction of birth weight

M: AHR (G>A, Arg554Lys)

Arg/Arg

Birth weight: 211 g ↓

[68]

Active smoking (based on questionnaire)

C: Reduction of birth weight

M: CYP1A1 (m1/m2)

m1/m2 + m2/m2

170 g ↓

[68]

Active smoking (based on questionnaire)

C: Reduction of birth weight

M: Combination of AHR (G>A, Arg554Lys) and CYP1A1 (m1/m2)

Combination of Arg/Arg (AHR) and m1/m2 + m2/m2 (CYP1A1)

315 g ↓

[68]

Active smoking (based on questionnaire)

C: Reduction of birth weight

M: Combination of CYP1A1 (m1/m2) and GSTM1 (non-null/null)

Combination of m1/m2 + m2/m2 (CYP1A1) and null (GSTM1)

237 g ↓

[68]

Active smoking (based on questionnaire)

C: Reduction of birth weight

M: NQO1 (C>T, Pro187Ser)

Pro/Pro

159 g ↓

[69]

Active smoking (based on questionnaire)

C: Reduction of birth weight

M: CYP2E1 (c1/c2)

c1/c1

195 g ↓

[69]

Active smoking (based on questionnaire)

C: Reduction of birth weight

M: MTHFR (A1298C)

AA

105.69 g ↓

[70]

Active smoking (based on cotinine level)

C: Reduction of birth weight

M: CYP1A1 (A>G, Ile462Val)

AG/GG

62 g ↓

[71]

Active smoking (based on cotinine level)

C: Reduction of birth weight

M: XRCC1 (C>T, Arg194Trp)

CT/TT

59 g ↓

[71]

Active smoking (based on cotinine level)

C: Reduction of birth weight

M: Combination of AHR (G>A, Arg554Lys), CYP1A1 (A>G, Ile462Val), and XRCC1 (C>T, Arg194Trp)

Combination of GG (AHR), AG/GG (CYP1A1), and CT/TT (XRCC1)

145 g ↓

[71]

Active smoking (based on cotinine level)

C: Reduction of birth weight

M: AHR (G>A, Arg554Lys)

GG

217 g ↓

[25]

Active smoking (based on cotinine level)

C: Reduction of birth weight

M: XRCC1 (C>T, Arg194Trp)

TT

387 g ↓

[25]

Passive smoking (based on cotinine level)

C: Reduction of birth weight

M: XRCC1 (C>T, Arg194Trp)

TT

139 g ↓

[25]

Dioxins

C: Reduction of birth weight

M: GSTM1 (non-null/null)

Null

214 g ↓

[28]

Caffeine (≤300 mg/day)

C: Reduction of birth weight

M CYP1A2 (C164A)

AA

277 g ↓

[72]

Passive smoking (based on cotinine level)

C: Reduction of head circumference gain from birth to 3 years

M: CYP1A1 (A>G, Ile462Val)

AG/GG

0.75 cm ↓

[73]

The ratio of the lengths of the 2nd and 4th digits (2D/4D) which considered an index of prenatal androgen exposure at 7 years of age

(C: 2D/4D)

C: ESR1 (A>G; rs9340799)

GG

2D/4D ↓

[74]

Mono(2-ethylhexyl) phthalate (MEHP) or Σ di(2-ethylhexyl) phthalate (DEHP)

C: 2D/4D

C: ESR1 (A>G; rs2077647)

AG/GG

2D/4D ↓

[75]

  1. ↓, decreased; ↑, increased
  2. Gene names: AHR, aromatic hydrocarbon receptor; CYP1A1, cytochrome P450 1A1; CYP1A2, cytochrome P450 1A2; CYP2E1, cytochrome P450 2E1; ESR1, estrogen receptor 1; GSTM1, glutathione S-transferase mu 1; MTHFR, methylenetetrahydrofolate reductase; NQO1, NAD(P)H quinone oxidoreductase 1; and XRCC1, x-ray cross-complementing gene 1