The clinical presentation of autoimmune thyroid disease in men is associated with IL12B genotype

Abstract

In men with autoimmune thyroid disease, a common variant located upstream of the IL12B coding region may influence whether patients present with Graves' disease or Hashimoto's disease.

Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CLBL genes

“…Begovich et al 28 did not find distorted transmission in concordance with the data reported by Alloza et al, 29 while Van Veen and colleagues observed association in a Dutch study. 30 A specific association with males was reported in Graves' disease 31 IL12A, has been recently identified as a novel MS susceptibility locus. 32 Finally, we aimed at studying the CNR1 gene, which encodes a receptor with a widespread distribution in the central nervous system.…”

No Association BetweenIL12BGene Polymorphisms and Graves’ Disease in the Chinese Population

“…However, the genetic basis for the gender difference observed in GD has not been studied, other than IL12B and Graves' Disease 183 the demonstration of skewed X chromosome inactivation (10,11). Recently, Walsh et al (12) reported polymorphisms in the IL12B gene were associated with the clinical presentation of autoimmune thyroid disease (AITD) in men, but not in women. The G/C polymorphism, rs6887695, located upstream of the IL-12 coding region, may influence whether male patients manifested GD or Hashimoto's disease.…”

“…One study from Japan (17) showed the lack of association between the IL12B gene polymorphism in the 3 untranslated region and AITD in Japanese. However, Walsh et al (12) investigated the G/C polymorphism rs6887695 in the upstream of the IL12B coding region and found that it was associated with the clinical presentation of AITD in a combined cohort of male patients from Australia, Europe, and China. Their investigation showed that the minor C allele was less frequent in men with Hashimoto's disease, with a minor allele frequency (MAF) of 14%, compared with an MAF of 41% in men with GD (p = 0.034), although there is no difference found in females.…”

The Immunopathogenesis of Chronic Autoimmune Thyroiditis One Century after Hashimoto

“…There may also be sex differences in the influence of genetic polymorphisms. In a recent study of SNPs in the IL12B gene, a common variant in the coding region was differentially associated between Hashimoto thyroiditis and Graves disease, but only in men [26]. …”