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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

Topics