The present study was to explore whether the polymorphisms of FAM167 A-BLK region are associated with the susceptibility to autoimmune thyroid disease (AITD). The second sequencing technology was undertaken for seven tag loci mapping of the FAM167 A-BLK region, namely, rs11250144, rs2618431, rs4840568, rs13277113, rs2248932, rs2736340, and rs922483, in 999 AITD patients, including 624 Graves' disease (GD) and 375 Hashimoto's thyroiditis individuals, and 797 healthy cohorts. In contrast to those in controls, allele C of rs11250144 and allele G of rs2618431 both showed increased frequencies in GD patients. Consistent with this, the frequency of genotype GG in rs2618431 was increased in GD patients. Similarly, compared with that in female controls, allele G of rs2618431 was increased in the female AITD patients. Likewise, the frequency of allele G in rs2618431 obviously declined in the female GD patients. Allele A of rs4840568 linked to the susceptibility of the AITD teenagers. Besides, allele C in rs11250144 was correlated with thyroid-associated ophthalmopathy (TAO). Moreover, allele C in rs11250144 increased the risk to TAO by 56.3%. Genetic variants of FAM167 A-BLK region may contribute to the susceptibility to AITD, which can be added as the genetic candidates for this disease.
Keywords: FAM167A-BLK; Graves' disease (GD); Hashimoto's thyroiditis (HT); autoimmune thyroid disease (AITD); polymorphism.