The autoimmune thyroid diseases (AITDs), comprising Graves' disease (GD) and Hashimoto's thyroiditis (HT), appear to develop as a result of complex interactions between predisposing genes and environmental triggers. A recently performed genome-wide linkage study identified six loci that showed evidence for linkage to AITD. One locus, GD-1, on chromosome 14q31 was mapped to within 2 centimorgans (cM) of the recently reported multinodular goiter (MNG)-1 locus. Furthermore, microsatellite markers for the thyroid stimulating hormone receptor gene on chromosome 14q31 were associated with AITDs in the Japanese population. A newly isolated growth factor, SEL1L, was recently mapped to 14q31, and we considered it an interesting candidate gene to examine with respect to both GD and MNG. We therefore have analyzed a dinucleotide (CA)n repeat polymorphism in the intron 20 of the SEL1L gene in patients with AITDs and in normal subjects. The polymorphic marker was analyzed by polymerase chain reaction (PCR) followed by electrophoresis on denaturing polyacrylamide gels. There was no significant difference in the distributions of SEL1L alleles between patients and controls. The present results do not support an association between a dinucleotide repeat polymorphism in intron 20 of the SEL1L gene and AITD in Japanese women.