Table 1 Main SNPs used to proxy ERα and ERβ perturbation

From: Menopausal hormone therapy and risk of neuropsychiatric disease: a drug target Mendelian randomisation study

Gene

Biomarker

SNP

EA

Beta

SE

p-value

Study

Sample size

ESR1

BMD

rs2504069

C

−0.042

0.002

2.2 × 10−82

Morris (2019)

426,824

  

rs6905582

G

0.057

0.002

2.7 × 10−92

Morris (2019)

426,824

  

rs2982573

T

−0.077

0.002

1.1 × 10−305

Morris (2019)

426,824

  

rs2234693

T

−0.017

0.002

1.8 × 10−12

Morris (2019)

426,824

  

rs10484920

A

0.039

0.004

1.2 × 10−18

Kim (2018)

394,929

  

rs115192536

G

−0.053

0.004

6.4 × 10−35

Kim (2018)

394,929

  

rs547908752

C

0.08

0.007

4.0 × 10−27

Kim (2018)

394,929

ESR1

SHBG

rs1738386

C

0.020

0.003

1.5 × 10−9

Haas (2022)

196,901

ESR2

HMG

rs1256061

T

−0.021

0.002

1.6 × 10−23

Oskarsson (2020)

684,122

  1. Lead single-nucleotide polymorphisms (SNPs) in ESR1 and ESR2 selected for the instruments. All SNPs are intron variants. SNPs within each biomarker are uncorrelated. Summary statistics were obtained from Morris et al.118, Kim et al.119, Haas et al.137, and Oskarsson et al.107. EA effect allele, SE standard error, BMD bone mineral density, SHBG sex hormone-binding globulin, HMG haemoglobin.
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