The clinical presentation of autoimmune thyroid disease in men is associated with IL12B genotype.
2011
Background Common variants in the interleukin 12B (IL12B)
gene are associated with predominantly inflammatory (Th1) or
antibody-mediated (Th2) immune responses. As Hashimoto’s disease
and Graves’ disease are thought to arise from mainly Th1 and
Th2 immune responses respectively, we hypothesized that IL12B
genotype may influence the clinical presentation of autoimmune
thyroid disease.
Objective We tested for differences in IL12B genotype between
Graves’ disease and Hashimoto’s disease.
Patients We studied a discovery cohort of 203 Australian
women and 37 men with autoimmune thyroid disease, a replication
cohort of 100 European men and a cohort of 146 Chinese
men.
Intervention We analysed three IL12B variants: rs41292470, in
the promoter; rs3212227, in the 3¢ untranslated region and
rs6887695, located 60 kilobases upstream from the coding
region.
Results In the discovery cohort, rs41292470 and rs3212227 genotypes
did not differ significantly between Hashimoto’s disease
and Graves’ disease. In Australian men (but not women),
rs6887695 genotype differed between Hashimoto’s disease and
Graves’ disease, with a minor allele frequency (MAF) of 14% and
41%, respectively (P = 0AE034). This result was confirmed in the
European men (MAF 24% and 41%; P = 0AE013). On combined
analysis of Australian, European and Chinese men (N = 285), the
difference was highly significant (MAF 23% and 45%;
P = 3 · 10)5). In 233 men without thyroid disease, the MAF was
34%, significantly different from Graves’ disease (P = 0AE005) and
Hashimoto’s disease (P = 0AE029).
Conclusion In men with autoimmune thyroid disease, a common
variant located upstream of the IL12B coding region may
influence wheth
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