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Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy.

Jwu Jin Khong1, Kathryn P Burdon2, Yi Lu3

  • 1Melbourne Clinical School-Western Campus Department of Medicine, University of Melbourne, Sunshine Hospital, St. Albans, Victoria, Australia 2Orbital, Plastics and Lacrimal Unit, The Royal Victorian Eye and Ear Hospital, Victoria, Australia 3Department of.

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A genetic variant in MACROD2 may increase susceptibility to thyroid-associated orbitopathy (TO) in Graves' disease patients. This finding requires further confirmation in independent studies.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Endocrinology

Background:

  • Thyroid-associated orbitopathy (TO) is an autoimmune condition causing orbital inflammation, potentially leading to vision loss.
  • While genetic factors are linked to Graves' disease, the genetic underpinnings of TO remain largely uncharacterized.

Purpose of the Study:

  • To identify genetic loci associated with TO in individuals diagnosed with Graves' disease.
  • To conduct the first genome-wide association scan (GWAS) specifically for TO.

Main Methods:

  • A GWAS was performed on pooled DNA from an Australian Caucasian cohort with Graves' disease and TO (cases) versus Graves' disease patients without TO (controls).
  • Top single nucleotide polymorphisms (SNPs) were genotyped individually in the discovery cohort and validated in two replication cohorts.

Main Results:

  • Several SNPs showed suggestive association with TO in the initial GWAS.
  • The SNP rs6110809, located within MACROD2 on chromosome 20p12.1, was consistently associated with TO across discovery and replication cohorts.
  • The minor A allele of rs6110809 was significantly more frequent in TO cases compared to controls (OR = 1.77, P = 4.35 × 10-5).

Conclusions:

  • A common genetic variant within MACROD2 may confer susceptibility to TO in Graves' disease patients.
  • Further validation of this association in independent cohorts is warranted.