Objective:
The aim of this study was to investigate UBASH3A gene variation association with autoimmune thyroid disease and clinical features in a Chinese Han population.
Subjects and methods:
A total of 667 AITD patients (417 GD and 250 HT) and 301 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) rs11203203, rs3788013 of UBASH3A gene, utilizing the Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform.
Results:
Between the control group and AITD, GD and HT group, no statistically significant difference was observed in the genotypic and allelic frequencies of the two SNPs. There was no significant difference in allelic frequencies of the two SNPs between GD with and without ophthalmopathy. There was no significant difference in haplotype distributions between the control group and AITD, GD or HT group.
Conclusion:
Rs11203203 and rs3788013 in UBASH3A gene may not be associated with AITD patients in Chinese Han population.
Autoimmune thyroid disease (AITD); Graves’ disease (GD); Hashimoto’s thyroiditis (HT); ubiquitin associated and SH3 domain containing A (UBASH3A); single nucleotide polymorphism (SNP)