---
title: What genetic factors are linked to premenstrual symptoms? | Niyora
description: One genetic location on chromosome 12 was clearly associated with PMS. The genetic factors linked to PMS are also linked to depression.
url: https://niyora.com/research/papers/a-genome-wide-association-study-of-premenstrual-symptoms-in-two-nordic-2026/
---

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- What genetic factors are linked to premenstrual symptoms?

Cohort study, 2026

# What genetic factors are linked to premenstrual symptoms?

One genetic location on chromosome 12 was clearly associated with PMS. The genetic factors linked to PMS are also linked to depression.

 Strong study design

72,297 European women from two Nordic population studies: 17,511 with premenstrual symptoms and 54,786 without

## What they did

Genetic analysis comparing 17,511 women with premenstrual symptoms to 54,786 women without symptoms from two Nordic population studies. Researchers looked for genetic markers associated with PMS.

## What they found

One genetic location (involving the CACNA1C gene) was clearly associated with PMS. The genetic influences on PMS overlapped substantially with genetic influences on major depression.

## What it means for you

Some PMS may have a genetic basis, and genetic factors for PMS and depression are shared. This is early research and needs confirmation in larger populations before clinical use.

17,511

women with premenstrual symptoms studied

54,786

women without symptoms

1

genetic location clearly associated with PMS

## About the study

Original title A Genome-Wide Association Study of Premenstrual Symptoms in Two Nordic Populations Authors Hysaj E, Jaholkowski P, Shadrin AA et al. Journal Biological psychiatry global open science Year 2026 Study design Cohort study Participants 54,786 What was tested None: genetic analysis study Open access Yes Read the paper [doi.org/10.1016/j.bpsgos.2026.100784](https://doi.org/10.1016/j.bpsgos.2026.100784) Original abstract

Background: Premenstrual disorders (PMDs) are characterized by affective and physical symptoms before menses, likely due to abnormal sensitivity to normal hormone fluctuations. While sizable heritability has been indicated in twin studies, there are no genome-wide association studies (GWASs) to inform the genetic architecture of PMDs. Methods: We conducted a GWAS of 17,511 women with premenstrual symptoms (PSs) and 54,786 control women of European ancestry from 2 Nordic population-based cohorts. PSs were assessed using questionnaires or identified as a clinical diagnosis of PMD in the nationwide health care registers. A GWAS was performed in each study before meta-analysis, followed by analyses of single nucleotide polymorphism (SNP)-based heritability ( h 2 SNP ) and genetic correlations to psychosocial and gynecological phenotypes. Results: In the meta-analysis, 1 locus at 12p13.3 (rs758170, CACNA1C , p = 1.53 × 10 -8 , odds ratio [OR] = 0.93, 95% CI [0.90 to 0.95]) was associated with PSs; while the effect sizes were comparable between cohorts (LifeGene OR = 0.95 vs. MoBa [The Norwegian Mother, Father and Child Cohort Study] OR = 0.92, p for heterogeneity = .59), the association was not significant in LifeGene ( p = .242). Moreover, we identified 6 loci with borderline significance, 3 of which were nominally significant in both cohorts (rs76665457, rs147346386, and rs4773561). The SNP-based heritability was estimated as 0.072 (SE = 0.01, p = 2.46 × 10 -12 ). The strongest correlation was with major depression ( r g = 0.62, 95% CI = [0.49 to 0.74], p = 3.04 × 10 -22 ). Conclusions: This study provides initial genetic insights into the biology of PSs by identifying an SNP associated with PSs and genetic correlations with a range of psychosocial and gynecological traits. If confirmed in larger independent populations, these findings may advance our understanding of the underlying mechanisms of PMDs.

Reproduced under CC-BY.

## Topics

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

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