--- title: Can genetic patterns help diagnose different types of PMDD? | Niyora description: Genetic patterns divided people with PMDD into two groups that matched two clinical types (depression and a second type) with 89.0% consistency. The patterns url: https://niyora.com/research/papers/copy-number-variation-profile-based-genomic-typing-of-premenstrual-dysphoric-2021/ --- - [Niyora](https://niyora.com/) - [Research](https://niyora.com/research/) - [Library](https://niyora.com/research/library/) - Can genetic patterns help diagnose different types of PMDD? Study, 2021 # Can genetic patterns help diagnose different types of PMDD? Genetic patterns divided people with PMDD into two groups that matched two clinical types (depression and a second type) with 89.0% consistency. The patterns were classified correctly 83.0% of the time, suggesting they could help identify which type someone has. Early or limited evidence People with PMDD and control subjects (exact sample size not specified) ## What they did Researchers analyzed DNA from people with PMDD and control subjects. They looked for copy number variations (differences in DNA sections) using genetic sequencing. Machine learning was used to sort the DNA patterns into groups and match them to clinical types. ## What they found Genetic patterns separated patients into a depression-type group and a second-type group that matched the clinical diagnoses 89.0% of the time. When researchers used machine learning features to classify the genetic patterns, they achieved 83.0% accuracy overall. The diagnostic features had an average power of 0.98. ## What it means for you Genetic differences may help identify different types of PMDD. This is early laboratory research showing that genetic patterns correlate with clinical types. However, this test is not yet available in regular clinics, and the research does not explain how knowing someone's genetic pattern would change their treatment. 89.0% Match between genetic patterns and clinical type 83.0% Accuracy in classifying genetic patterns 0.98 Average diagnostic power ## About the study Original title Copy number variation profile-based genomic typing of premenstrual dysphoric disorder in Chinese Authors Xue H, Wu Z, Long X et al. Journal Journal of genetics and genomics = Yi chuan xue bao Year 2021 Study design Study What was tested Genetic analysis (not a treatment) Open access Yes Read the paper [doi.org/10.1016/j.jgg.2021.08.012](https://doi.org/10.1016/j.jgg.2021.08.012) Original abstract Premenstrual dysphoric disorder (PMDD) affects nearly 5% of women of reproductive age. Symptomatic heterogeneity, together with largely unknown genetics, has greatly hindered its effective treatment. In the present study, analysis of genomic sequencing-based copy number variations (CNVs) called from 100 kb white blood cell DNA sequence windows by means of semisupervized clustering led to the segregation of patient genomes into the D and V groups, which correlated with the depression and invasion clinical types, respectively, with 89.0% consistency. Application of diagnostic CNV features selected using the correlation-based machine learning method enabled the classification of the CNVs obtained into the D group, V group, total patient group, and control group with an average accuracy of 83.0%. The power of the diagnostic CNV features was 0.98 on average, suggesting that these CNV features could be used for the molecular diagnosis of the major clinical types of PMDD. This demonstrated concordance between the CNV profiles and clinical types of PMDD supported the validity of symptom-based diagnosis of PMDD for differentiating between its two major clinical types, as well as the predominantly genetic nature of PMDD with a host of overlaps between multiple susceptibility genes/pathways and the diagnostic CNV features as indicators of involvement in PMDD etiology. 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/)[Irritability and anger](https://niyora.com/research/topics/symptom-irritability-anger/) 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 Randomised trial, 2025 Does taking an antidepressant only during the second half of your cycle reduce anger and aggression in PMDD? Randomised trial, 2023 Does taking sertraline when PMDD symptoms start improve how well women function? Randomised trial, 2021 Does ulipristal acetate (a progesterone blocker) treat PMDD? Randomised trial, 2015 Does taking sertraline only when PMDD symptoms start, instead of every day, help? Randomised trial, 2008 Does the antidepressant escitalopram taken only during the luteal phase reduce PMDD symptoms? Randomised trial, 2007 Does paroxetine work better if taken daily or just during your luteal phase for PMDD? Ask AI about this page Copy prompt ChatGPT ↗ Claude ↗ Perplexity ↗ Google AI Mode ↗ Grok ↗