Rs3743930

The symptoms of familial Mediterranean fever are caused by the person's own inflammatory response; it is not an infectious disease. The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry.

23andMe tests for SNPs in the MEFV gene that are associated with a recessive form of familial Mediterranean fever:
 * rs28940579, also known as V726A (risk allele G)
 * rs28940580, also known as M680I C>G (risk allele G)
 * rs28940578, also known as M694I (risk allele T)
 * rs3743930, also known as E148Q (risk allele G)
 * rs11466023, also known as P369S (risk allele A)
 * i4000406, also known as M694V (risk allele C)
 * i4000409, also known as A744S (risk allele A)
 * i4000403, also known as F479L (risk allele C)
 * i4000410, also known as R761H (risk allele T)
 * i4000407, also known as K695R (risk allele C)

Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

On the latency and form of the membrane responses of smooth muscle to the iontophoretic application of acetylcholine or carbachol.

MEFV mutations in Behcet's disease.

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.


 * is_associated_with_disease::Ulcerative colitis
 * is_associated_with_disease::Disease by infectious agent
 * is_associated_with_disease::Syndrome
 * is_associated_with_disease::Fibromyalgia
 * is_associated_with_disease::Crohn's disease
 * is_associated_with_disease::Familial Mediterranean fever