--- title: Are certain genetic variations in the GABRB2 gene associated with PMDD? description: Yes. Specific copy number gains in the GABRB2 gene are significantly more common in women with PMDD, with a roughly 10-fold increased risk in Chinese women an url: https://niyora.com/research/papers/highly-recurrent-copy-number-variations-in-gabrb2-associated-with-schizophrenia-2020/ --- - [Niyora](https://niyora.com/) - [Research](https://niyora.com/research/) - [Library](https://niyora.com/research/library/) - Are certain genetic variations in the GABRB2 gene associated with PMDD? Case-control study, 2020 # Are certain genetic variations in the GABRB2 gene associated with PMDD? Yes. Specific copy number gains in the GABRB2 gene are significantly more common in women with PMDD, with a roughly 10-fold increased risk in Chinese women and a 2.4-fold increase at another location. Early or limited evidence Chinese and German patients with schizophrenia, Chinese women with PMDD, and control groups matched by ethnicity and gender ## What they did Case-control study in Chinese and German populations. Researchers looked for two specific copy number variations (genetic duplications) in the GABRB2 gene using a method called quantitative PCR in people with schizophrenia, women with PMDD, and control groups matched by ethnicity and gender. ## What they found Copy number gains in this gene were significantly enriched in both schizophrenia and PMDD patients. In Chinese women with PMDD, the odds ratio was 10.53 for one location (esv2730987) and 2.39 for another (nsv1177513). These same genetic variations were also found in schizophrenia patients from both populations, with odds ratios ranging from 2.15 to 3.96. ## What it means for you If you have a duplication in the GABRB2 gene, your risk of PMDD is significantly higher. The same genetic change appears in schizophrenia, suggesting these conditions might share some biological basis. This is early research and does not explain what to do with this finding or suggest specific treatments. The study does not report total sample sizes. 10.53 odds ratio for PMDD at esv2730987 2.39 odds ratio for PMDD at nsv1177513 3.96 highest odds ratio in female subgroups ## About the study Original title Highly Recurrent Copy Number Variations in GABRB2 Associated With Schizophrenia and Premenstrual Dysphoric Disorder Authors Ullah A, Long X, Mat WK et al. Journal Frontiers in psychiatry Year 2020 Study design Case-control study What was tested None Open access Yes Read the paper [doi.org/10.3389/fpsyt.2020.00572](https://doi.org/10.3389/fpsyt.2020.00572) Original abstract Objective: Although single-nucleotide polymorphisms in GABRB2 , the gene encoding for GABA A receptors β2 subunit, have been associated with schizophrenia (SCZ), it is unknown whether there is any association of copy number variations (CNVs) in this gene with either SCZ or premenstrual dysphoric disorder (PMDD). Methods: In this study, the occurrences of the recurrent CNVs esv2730987 in Intron 6 and nsv1177513 in Exon 11 of GABRB2 in Chinese and German SCZ, and Chinese PMDD patients were compared to controls of same ethnicity and gender by quantitative PCR (qPCR). Results: The results demonstrated that copy-number-gains were enriched in both SCZ and PMDD patients with significant odds ratios (OR). For combined-gender SCZ patients versus controls, about two-fold increases were observed in both ethnic groups at both esv2730987 (OR = 2.15, p = 5.32E-4 in Chinese group; OR = 2.79, p = 8.84E-3 in German group) and nsv1177513 (OR = 3.29, p = 1.28E-11 in Chinese group; OR = 2.44, p = 6.17E-5 in German group). The most significant copy-number-gains were observed in Chinese females at nsv1177513 (OR = 3.41), and German females at esv2730987 (OR=3.96). Copy-number-gains were also enriched in Chinese PMDD patients versus controls at esv2730987 (OR = 10.53, p = 4.34E-26) and nsv1177513 (OR = 2.39, p = 3.19E-5). Conclusion: These findings established for the first time the association of highly recurrent CNVs with SCZ and PMDD, suggesting the presence of an overlapping genetic basis with shared biomarkers for these two common psychiatric disorders. Reproduced under CC-BY. ## Topics [Premenstrual dysphoric disorder (PMDD)](https://niyora.com/research/topics/condition-pmdd/)[Low mood and depression](https://niyora.com/research/topics/symptom-depression-mood/)[Neurosteroids (allopregnanolone)](https://niyora.com/research/topics/treatment-neurosteroids/)[Schizophrenia and psychosis](https://niyora.com/research/topics/comorbidity-psychosis/) Research tells you what helps on average. Niyora helps on the day it hits. Calm down, see it another way, and decide what to say, with a PMS and PMDD app built by a doctor. ## Related studies Systematic review, 2026 Why do some women experience mood changes linked to their menstrual cycle? Case-control study, 2024 Do steroid hormone levels change differently across the menstrual cycle in women with PMDD? Survey study, 2022 What causes PMS and PMDD and what new treatments are being studied? Systematic review, 2021 Are there hormone changes that could explain PMDD or depression in women? Review, 2017 What causes PMDD and what are the best treatments? Systematic review, 2016 What are the best treatments for PMDD without other mental health conditions? Ask AI about this page Copy prompt ChatGPT ↗ Claude ↗ Perplexity ↗ Google AI Mode ↗ Grok ↗