---
title: Is PMDD linked to genetic variations in the estrogen receptor gene?
description: Yes. Four genetic variations in the ESR1 estrogen receptor gene were significantly more common in women with PMDD than in controls. These associations were st
url: https://niyora.com/research/papers/risk-for-premenstrual-dysphoric-disorder-is-associated-with-genetic-variation-in-2007/
---

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- Is PMDD linked to genetic variations in the estrogen receptor gene?

Case-control study, 2007

# Is PMDD linked to genetic variations in the estrogen receptor gene?

Yes. Four genetic variations in the ESR1 estrogen receptor gene were significantly more common in women with PMDD than in controls. These associations were strongest in women with a specific genetic variation in the COMT gene.

 Early or limited evidence

91 women with PMDD and 56 control women

## What they did

Case-control study comparing 91 women with confirmed PMDD to 56 control women. Researchers analyzed genetic variations in two estrogen receptor genes (ESR1 and ESR2) and the COMT gene.

## What they found

Four genetic variations in ESR1 showed significantly different patterns between PMDD patients and controls. No significant associations were found with ESR2 or COMT alone. The ESR1 findings were strongest in women with the COMT Val/Val genetic type.

## What it means for you

A genetic variation in the estrogen receptor gene may contribute to PMDD risk, especially in women with a specific genetic makeup affecting estrogen metabolism. The findings are preliminary and limited by small sample size.

91

Women with PMDD

56

Control women

4

Genetic variations in ESR1

## About the study

Original title Risk for premenstrual dysphoric disorder is associated with genetic variation in ESR1, the estrogen receptor alpha gene Authors Huo L, Straub RE, Roca C et al. Journal Biological psychiatry Year 2007 Study design Case-control study Participants 91 What was tested Genetic analysis of estrogen and COMT genes Open access Yes Read the paper [doi.org/10.1016/j.biopsych.2006.12.019](https://doi.org/10.1016/j.biopsych.2006.12.019)

## Topics

[Premenstrual syndrome (PMS)](https://niyora.com/research/topics/condition-pms/)[Premenstrual dysphoric disorder (PMDD)](https://niyora.com/research/topics/condition-pmdd/)[Menstrual cycle and mood](https://niyora.com/research/topics/condition-cycle-mood/)[Low mood and depression](https://niyora.com/research/topics/symptom-depression-mood/)

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## Related studies

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What genetic factors are linked to premenstrual symptoms?

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Systematic review, 2026

Why do some women experience mood changes linked to their menstrual cycle?

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Do women with PMS handle emotions differently at different times of the cycle?

Systematic review, 2025

Do people with PMDD and severe PMS have difficulties with emotion regulation?

Cohort study, 2025

Do women with a history of PMS or PMDD have more depression during pregnancy and after birth?

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