Genome-wide association analysis of pain severity in dysmenorrhea identifies association at chromosome 1p13.2, near the nerve growth factor locus Original paper

Researched by:

  • Divine Aleru ID
    Divine Aleru

    User avatarI am a biochemist with a deep curiosity for the human microbiome and how it shapes human health, and I enjoy making microbiome science more accessible through research and writing. With 2 years experience in microbiome research, I have curated microbiome studies, analyzed microbial signatures, and now focus on interventions as a Microbiome Signatures and Interventions Research Coordinator.

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July 28, 2025

  • Women’s Health
    Women’s Health

    Women’s health, a vital aspect of medical science, encompasses various conditions unique to women’s physiological makeup. Historically, women were often excluded from clinical research, leading to a gap in understanding the intricacies of women’s health needs. However, recent advancements have highlighted the significant role that the microbiome plays in these conditions, offering new insights and potential therapies. MicrobiomeSignatures.com is at the forefront of exploring the microbiome signature of each of these conditions to unravel the etiology of these diseases and develop targeted microbiome therapies.

Researched by:

  • Divine Aleru ID
    Divine Aleru

    User avatarI am a biochemist with a deep curiosity for the human microbiome and how it shapes human health, and I enjoy making microbiome science more accessible through research and writing. With 2 years experience in microbiome research, I have curated microbiome studies, analyzed microbial signatures, and now focus on interventions as a Microbiome Signatures and Interventions Research Coordinator.

    Read More

Last Updated: 2025-07-25

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Divine Aleru

I am a biochemist with a deep curiosity for the human microbiome and how it shapes human health, and I enjoy making microbiome science more accessible through research and writing. With 2 years experience in microbiome research, I have curated microbiome studies, analyzed microbial signatures, and now focus on interventions as a Microbiome Signatures and Interventions Research Coordinator.

What was studied?

This study investigates the genetic factors contributing to the severity of dysmenorrhea pain through a genome-wide association study (GWAS). The researchers focused on identifying genetic variations that correlate with self-reported pain intensity in dysmenorrhea among 11,891 women of European descent. The study identified a genome-wide significant association at chromosome 1p13.2, near the nerve growth factor (NGF) gene, which is implicated in pain modulation. The study employed a linear regression model, adjusting for age and body mass index (BMI), to identify a single nucleotide polymorphism (SNP) associated with increased pain severity.

Who was studied?

The study cohort consisted of 11,891 unrelated females aged 18 to 45, of European descent, who reported their average dysmenorrhea pain severity on a 4-point ordinal scale. Participants were recruited from 23andMe, a personal genetics company, and the cohort included a wide range of individuals with varying pain severities. Notably, the study also gathered data on participants’ comorbid conditions, such as endometriosis, polycystic ovary syndrome (PCOS), and depression, which have been associated with more severe dysmenorrhea pain.

Most important findings

The GWAS revealed a significant genetic association at the 1p13.2 locus, where a SNP (rs7523086) was found to co-localize with the NGF gene, which plays a critical role in pain regulation. The presence of the risk allele at this locus was associated with an increase in dysmenorrhea pain intensity, suggesting that NGF may be an important mediator of pain in dysmenorrhea. The study also highlighted that dysmenorrhea pain severity was influenced by age, BMI, and the presence of comorbid conditions like endometriosis and depression. The association with NGF aligns with existing knowledge of NGF’s role in chronic pain disorders, indicating that NGF could be a potential therapeutic target for dysmenorrhea pain.

Key implications

The identification of the NGF gene locus as a genetic risk factor for dysmenorrhea pain severity offers new insights into the genetic underpinnings of this condition. The association between NGF and pain suggests that targeting NGF pathways could provide a novel treatment approach for women with severe dysmenorrhea. The findings also emphasize the importance of considering genetic predisposition when assessing dysmenorrhea severity, as well as the need for further research to explore the mechanistic role of NGF in dysmenorrhea and related pelvic pain disorders.

Primary Dysmenorrhea

Primary dysmenorrhea (PD) is painful menstrual cramps without underlying pelvic pathology, predominantly caused by elevated prostaglandins inducing uterine contractions and ischemia. Managing primary dysmenorrhea (PD) requires understanding its complex mechanisms involving prostaglandins, oxidative stress, and inflammation. Treatments include NSAIDs, hormonal therapies, and promising complementary options like probiotics, vitamins, omega-3 fatty acids, exercise, yoga, acupuncture, and massage, significantly improving women's quality of life.

Endometriosis

Endometriosis involves ectopic endometrial tissue causing pain and infertility. Validated and Promising Interventions include Hyperbaric Oxygen Therapy (HBOT), Low Nickel Diet, and Metronidazole therapy.

Polycystic ovary syndrome (PCOS)

Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects women of reproductive age, characterized by irregular menstrual cycles, hyperandrogenism, and insulin resistance. It is often associated with metabolic dysfunctions and inflammation, leading to fertility issues and increased risk of type 2 diabetes and cardiovascular disease.

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