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. 2023 May 9;29(5):655–674. doi: 10.1093/humupd/dmad009

Table 1.

Publications detailing Mendelian randomization and genetic correlation analyses with endometriosis.

Trait category Traits Methods Ancestry Publication
Pain Migraine Genetic correlation and Mendelian randomization
  • Endometriosis: 93% European, 7% Japanese

  • Migraine: European

Adewuyi et al. (2020)
Genetic correlation Australian Nyholt et al. (2009)
Gynaecological conditions Age at menarche, age at menopause, AMH levels, reproductive hormone levels and length of menstrual cycle Mendelian randomization
  • Endometriosis: Finnish

  • Age at menarche, age at menopause, AMH levels, reproductive hormone levels and length of menstrual cycle: European

Garitazelaia et al. (2021)
Uterine fibroids Genetic correlation and Mendelian randomization
  • Endometriosis: European

  • Uterine fibroids: European

Gallagher et al. (2019)
Age at first birth and age at first sexual intercourse Genetic correlation
  • Endometriosis: European

  • Age at first birth and age at first sexual intercourse: European

Mills et al. (2021)
Cancer Epithelial ovarian cancer and epithelial ovarian cancer subtypes Genetic correlation and Mendelian randomization
  • Endometriosis: European

  • Epithelial ovarian cancer and epithelial ovarian cancer subtypes: European

Mortlock et al. (2022)
Mendelian randomization
  • Endometriosis: European

  • Epithelial ovarian cancer and epithelial ovarian cancer subtypes: European

Lu et al. (2015)
Mendelian randomization
  • Endometriosis: 93% European, 7% Japanese

  • Epithelial ovarian cancer and Epithelial ovarian cancer subtypes: European

Yarmolinsky et al. (2019)
Ovarian cancer, ovarian cancer subtypes, breast cancer, endometrial cancer Mendelian randomization
  • Endometriosis: 93% European, 7% Japanese

  • Ovarian cancer, ovarian cancer subtypes, breast cancer, endometrial cancer: European

Rueda-Martinez et al. (2021)
Melanoma Genetic correlation and Mendelian randomization
  • Endometriosis: European

  • Melanoma: European

Yang et al. (2021)
Endometrial cancer Genetic correlation
  • Endometriosis: Australian and UK

  • Endometrial cancer: Australian and UK

Painter et al. (2018)
Genetic correlation and Mendelian randomization
  • Endometriosis: 0.5% Japanese, 99.5% European

  • Endometrial cancer: European

Kho et al. (2021)
Inflammatory Asthma Genetic correlation and Mendelian randomization
  • Endometriosis: 93% European, 7% Japanese

  • Asthma: European

Adewuyi et al. (2022)
Coeliac disease, systemic lupus erythematosus, Sjögren’s syndrome, rheumatoid arthritis, and multiple sclerosis Mendelian randomization
  • Endometriosis: Finnish

  • Coeliac disease, systemic lupus erythematosus, Sjögren’s syndrome, rheumatoid arthritis, and multiple sclerosis: European

Garitazelaia et al. (2021)
Gastrointestinal Gastritis/duodenitis, gastro-oesophageal reflux disease Genetic correlation and Mendelian randomization
  • Endometriosis: European (93%), Japanese (7%)

  • Gastritis/duodenitis, gastro-oesophageal reflux disease: European

Adewuyi et al. (2021)
Psychological Depression Genetic correlation and Mendelian randomization
  • Endometriosis: European (93%), Japanese (7%)

  • Depression: European

Adewuyi et al. (2021)
Anthropometric Weight, BMI, height, WHR Mendelian randomization
  • Endometriosis: Finnish

  • Weight, BMI, height, waist-to-hip ratio (WHR): European

Garitazelaia et al. (2021)
Birth weight Mendelian randomization
  • Endometriosis: Finnish

  • Birth weight: European

He et al. (2022)
  • BMI, WHR and WHRadjBMI, each adjusted for leptin, fasting insulin and insulin sensitivity separately, as well as unadjusted

  • Leptin, fasting insulin, and insulin sensitivity each adjusted for BMI, WHR and WHRadjBMI separately, as well as unadjusted

  • visceral adipose tissue mass

Mendelian randomization
  • Endometriosis: Australia and UK, UKB and FinnGen

  • BMI, WHR, WHRadjBMI: European. VAT mass: UKB individuals of British descent. Leptin, fasting insulin, insulin sensitivity: European.

Venkatesh et al. (2022)
Adulthood and childhood BMI Mendelian randomization
  • Endometriosis: UKB

  • Adulthood and childhood BMI: European

Yan et al. (2022)
BMI Mendelian randomization
  • Endometriosis: Japanese

  • BMI: Japanese

Masuda et al. (2020)

AMH, anti-Müllerian Hormone; UKB, UK Biobank; WHR, waist-to-hip ratio.