Study Finds Genetic Variants Associated With Risk for Fibromyalgia

http://www.painmedicinenews.com/Science-Technology/Article/05-16/Study-Finds-Genetic-Variants-Associated-With-Risk-for-Fibromyalgia/36078/ses=ogst

 

Palm Springs, Calif.—A retrospective analysis has found two genetic polymorphisms with a statistically significant association with fibromyalgia: C-reactive protein (CRP; rs1205) and protein tyrosine phosphatase, nonreceptor type 11 (PTPN11; rs2301756). According to the researchers, these findings could contribute to the discovery of better diagnostic and treatment modalities for the disease.

“Collectively, our results show that genetic testing for CRP and PTPN11 may help determine the risk of fibromyalgia,” said Zoie Badura, MS, the primary author of the study, and a researcher at Proove Biosciences. “These findings need to be validated but suggest genetic testing may aid in diagnosis and, potentially, treatment intervention based on biomarker expression.”

Despite advances in research and better understanding of the disorder, as Ms. Badura reported at the 2016 annual meeting of the American Academy of Pain Medicine, fibromyalgia remains undiagnosed in as many as three of four people with the condition.

“The etiology of fibromyalgia is elusive,” said Natasha Anand, MS, study co-author and a researcher at Proove Biosciences. “Although the American College of Rheumatology has published criteria for diagnosis, there are no diagnostic tests for fibromyalgia, and standard laboratory tests do not typically reveal a physiological reason for symptoms.”

In fact, as Ms. Anand explained, patients often see several health care providers in an effort to establish the reasons for their symptoms and to find treatment.

The pathogenesis of fibromyalgia remains equally uncertain: It is not yet clear how genetic variables contribute to the development of the disorder, or whether they may be predictive of a person developing the disease.

CRP and PTPN11: Linked to Fibromyalgia

This multicenter, retrospective, case-control study was composed of 108 patients who had been diagnosed with fibromyalgia (International Classification of Diseases, Ninth Revision, Clinical Modification code 729.1) and 104 controls who were matched for age, race and sex. Data were collected from September 2014 to January 2015 from 26 different clinical research sites in the United States, and samples were genotyped for 128 single nucleotide polymorphisms. Association and regression analyses were then performed to determine associations between each genotype and pain phenotype.

<03C7>-square testing showed that genetic polymorphisms in eight genes had a statistically significant association with fibromyalgia (P<0.01). Of these, however, only polymorphisms in the CRP and PTPN11 genes passed significance testing following Bonferroni correction (P=0.004).

“Interestingly,” said Ms. Badura, “the CRP C-allele has been associated with higher plasma concentrations of CRP. Our findings, which indicate the C-allele is associated with fibromyalgia, support the conclusions of previous research, and indicate that genetic testing could identify patients at higher risk of elevated CRP levels and fibromyalgia.”

CRP is a marker for inflammation, said Ms. Badura, which suggests that fibromyalgia patients may be genetically predisposed to inflammatory processes.

Researchers also found a significant and “novel” association between PTPN11 polymorphism and fibromyalgia. The PTPN11 codes for the SHP-2 protein, which is widely expressed in most tissues, and is responsible for cytokine signaling in the immune system as well as modulating the body’s response to stress by inducing inflammation.

“The PTPN11 polymorphism may play a yet unexplored role in the inflammatory component of fibromyalgia,” Ms. Anand noted. “PTPN11 is also involved in different gut reactions—a lot of people with fibromyalgia have gut diseases, too—but we’re still unsure of the association because this is a novel finding.”

Ms. Anand and her colleagues are continuing to evaluate potential associations between genetic polymorphisms and fibromyalgia in order to uncover therapeutic markers and develop objective diagnostic instruments.

“If we keep analyzing people’s genes and genetics, I think we might be able to see people who do have fibromyalgia and maybe people who have something else misdiagnosed,” Ms. Anand concluded.

 

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