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A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis.
J Clin Endocrinol Metab. 2002 Jun; 87(6):2564-7.JC

Abstract

Graves' disease and Hashimoto's thyroiditis are common autoimmune thyroid disorders. Experimentally, 1,25(OH)(2) D(3) prevents Hashimoto's thyroiditis. Vitamin D serum levels in Graves' disease were found to be significantly lower than in nonautoimmune hyperthyroidism. The polymorphic vitamin D-binding protein (DBP) greatly facilitates vitamin D actions, and DBP alleles differ regarding their affinity for 1,25(OH)(2) D(3). Therefore, we investigated polymorphisms of the DBP gene for an association with thyroid autoimmunity. Families with an offspring affected by Graves' disease (95 pedigrees) or by Hashimoto's thyroiditis (92 pedigrees) encompassing 561 individuals of Caucasian origin were genotyped for three DBP polymorphisms [(TAAA)(N) in intron 8; StyI; and HaeIII in exon 11]. Indirect haplotyping and (extended) transmission disequilibrium testing were performed. There was a significant transmission disequilibrium of the intron 8 polymorphism in patients with Graves' disease (P < 0.03) but not of the exon 11 polymorphism. In contrast, neither the intron 8 nor the exon 11 polymorphism was associated with Hashimoto's thyroiditis. Maternal and paternal transmission as well as allele frequencies in DQ2(+) and DQ2(-) patients did not differ in either disease. Therefore, allelic variants of the DBP gene confer susceptibility to Graves' disease but not to Hashimoto's thyroiditis in our population. These findings support a role of the vitamin D endocrine system in thyroid autoimmunity.

Authors+Show Affiliations

Department of Internal Medicine I, University Hospital Frankfurt am Main, Theodor-Stern-Kai 7, D-60596 Frankfurt am Main, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12050214

Citation

Pani, Michael A., et al. "A Polymorphism Within the Vitamin D-binding Protein Gene Is Associated With Graves' Disease but Not With Hashimoto's Thyroiditis." The Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 6, 2002, pp. 2564-7.
Pani MA, Regulla K, Segni M, et al. A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis. J Clin Endocrinol Metab. 2002;87(6):2564-7.
Pani, M. A., Regulla, K., Segni, M., Hofmann, S., Hüfner, M., Pasquino, A. M., Usadel, K. H., & Badenhoop, K. (2002). A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis. The Journal of Clinical Endocrinology and Metabolism, 87(6), 2564-7.
Pani MA, et al. A Polymorphism Within the Vitamin D-binding Protein Gene Is Associated With Graves' Disease but Not With Hashimoto's Thyroiditis. J Clin Endocrinol Metab. 2002;87(6):2564-7. PubMed PMID: 12050214.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis. AU - Pani,Michael A, AU - Regulla,Karoline, AU - Segni,Maria, AU - Hofmann,Stefan, AU - Hüfner,Michael, AU - Pasquino,Anna Maria, AU - Usadel,Klaus-H, AU - Badenhoop,Klaus, PY - 2002/6/7/pubmed PY - 2002/7/4/medline PY - 2002/6/7/entrez SP - 2564 EP - 7 JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. VL - 87 IS - 6 N2 - Graves' disease and Hashimoto's thyroiditis are common autoimmune thyroid disorders. Experimentally, 1,25(OH)(2) D(3) prevents Hashimoto's thyroiditis. Vitamin D serum levels in Graves' disease were found to be significantly lower than in nonautoimmune hyperthyroidism. The polymorphic vitamin D-binding protein (DBP) greatly facilitates vitamin D actions, and DBP alleles differ regarding their affinity for 1,25(OH)(2) D(3). Therefore, we investigated polymorphisms of the DBP gene for an association with thyroid autoimmunity. Families with an offspring affected by Graves' disease (95 pedigrees) or by Hashimoto's thyroiditis (92 pedigrees) encompassing 561 individuals of Caucasian origin were genotyped for three DBP polymorphisms [(TAAA)(N) in intron 8; StyI; and HaeIII in exon 11]. Indirect haplotyping and (extended) transmission disequilibrium testing were performed. There was a significant transmission disequilibrium of the intron 8 polymorphism in patients with Graves' disease (P < 0.03) but not of the exon 11 polymorphism. In contrast, neither the intron 8 nor the exon 11 polymorphism was associated with Hashimoto's thyroiditis. Maternal and paternal transmission as well as allele frequencies in DQ2(+) and DQ2(-) patients did not differ in either disease. Therefore, allelic variants of the DBP gene confer susceptibility to Graves' disease but not to Hashimoto's thyroiditis in our population. These findings support a role of the vitamin D endocrine system in thyroid autoimmunity. SN - 0021-972X UR - https://www.unboundmedicine.com/medline/citation/12050214/A_polymorphism_within_the_vitamin_D_binding_protein_gene_is_associated_with_Graves'_disease_but_not_with_Hashimoto's_thyroiditis_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jcem.87.6.8562 DB - PRIME DP - Unbound Medicine ER -