Strong Genetic Markers Identified for Fibromyalgia

VBCR - June 2013, Volume 2, No 3 - Personalized Medicine in Rheumatology

By Neil Canavan

A study looking at families in which more than 1 member has fibromyalgia has found several strong genetic links for the disease. By examining the frequency of 341 distinct genetic markers, investigators determined that the estimated risk of fibromyalgia in siblings was 27.2% compared with just 2% in the overall population.

“The estimated sibling recurrence risk ratio…suggests a strong genetic component of fibromyalgia, [and] confirms previous reports that fibromyalgia aggregates in families,” concluded the study authors, whose findings were recently published (Arnold LM, et al. Arthritis Rheum. 2013;65:1122-1128).

Results of this work have also identified several key genetic markers for risk that suggest the potential for identifying individuals who are at high risk before disease onset, as well as for guiding discovery efforts in drug development.

The research is a crucial step forward toward the realization of personalized medicine in rheumatic diseases, and for fibromyalgia in particular, which has an enormous negative impact on patients’ quality of life, as well as a significant financial burden on the healthcare system.

Fibromyalgia is most often diagnosed in middle age. Working adults with fibromyalgia miss 17 days of work annually on average compared with only 6 days for healthy workers. The average annual direct medical costs per fibromyalgia patient are in excess of $3400.

The Fibromyalgia Family Study
Previous attempts to identify fibromyalgia-susceptible genes have had limited success. For this latest study, however, newly available DNA-sequencing technology was used to rapidly (and in a cost-effective way) compare the genetic profiles of 116 families with fibromyalgia.

“To our knowledge, the present study is the first genome-wide linkage scan for fibromyalgia in a cohort of multicase families,” the investigators noted.

Despite the technology upgrade, the etiologic task was formidable; fibromyalgia is a disorder that is characterized by multiple, but not necessarily related, symptoms, including musculoskeletal pain, fatigue, sleep disturbance, depression, and, in many cases, irritable bowel syndrome. As such, it is difficult to know what to genetically look for.

Of the several specific genetic loci found in this study, the most prominent were on chromosome 17p11.2-­­q11.2. This region coincides with the mapped coordinates for 2 potential candidate genes for fibromyalgia:

  • Serotonin transporter gene, SLC6A4
  • Transient receptor potential vanilloid channel 2 gene, TRPV2.

These findings strongly support some of the current treatment strategies and point the way to future drug development. Serotonin is associated with sleep regulation and depression; TRPV2 is associated with inflammation and hypersensitivity to pain.

It is already known that antidepressant medications can have a beneficial effect on patients with fibromyalgia. As for TRPV2, this target is now the subject of multiple lines of pharmacologic research.

Although the results of this study do not provide, in and of themselves, a complete picture, they do represent a significant outline of the puzzle, and they further justify the genetic approach as researchers continue to accrue increasing data from even more family member participants in the ongoing Fibromyalgia Family Study.

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Last modified: May 21, 2015
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