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Risk score · Immune & inflammatory

Endometriosis Polygenic Risk Score

Endometriosis is where tissue like the womb lining grows outside the uterus, often causing pelvic pain. It affects up to 10% of women of reproductive age, and genes account for about 47% of risk in twin data.

A risk score adds up many common variants, each with a small effect, into an estimate of genetic predisposition. It is not a diagnosis.

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Limitations

  • A polygenic score does not include reproductive factors such as an early first period, short cycles or having no children, which also raise risk.

References

  1. As-Sanie S, Mackenzie SC, Morrison L, Schrepf A, Zondervan KT, Horne AW et al., 2025. Endometriosis: A Review
  2. Saha R, Pettersson HJ, Svedberg P, Olovsson M, Bergqvist A, Marions L et al., 2015. Heritability of endometriosis

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