Mechanism:

  • SNP in the intron (noncoding region) of the thyroid stimulating hormone receptor gene [R].
  • More likely to occur (LD) with a SNP in the coding region of TSHR that changes the TSHR protein
  • TT Allele = Decrease in presence of full TSHR in favor of a split version of the protein (called ST5) that increases its ability to bind to the antibody, thus increasing the production of thyroid hormone and the growth of thyroid cells [R].
  • CT Allele = Increased ratio of full length TSHR to ST5 [R]
  • CC Allele = Even more full length TSHR relative to the mutated version ST5 [R].

The Minor allele "T" is associated with:

  • TT= Increased susceptibility to Graves’ disease (in European and Chinese Cohorts) [R1, R2, R3].
  • Increased risk of developing Graves orbitopathy in young Grave's disease patients (T or TT) [R].
  • Increased thyroid hormone production (hyperthyroidism) [R].
  • Symptoms include weight loss, fatigue, muscle weakness, decreased tolerance to heat, increased heart rate, nervousness or irritability, trouble sleeping, and a goiter [R].

The Major allele "C" is associated with:

  • Production of the full TSHR protein, allowing for normal production of thyroid hormone and normal growth of thyroid cells [R].

rs12101255

Parent Gene: TSHR

Importance: 3
Less common allele: T = 42%
More common allele: C = 58%
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