Vitamin D receptor alleles b, a, and T: Risk factors for sporadic primary hyperparathyroidism (HPT) but not HPT of uremia or MEN 1

Polymorphisms in the vitamin D receptor (VDR) gene have been hypothezised to interfere with VDR expression, VDR alleles (Bb, Aa and Ttl were examined in 254 Caucasian patients with sporadic primary hyperparathyroidism (spHPT, n=206), HPT of multiple endocrine neoplasia type 1 (MEN-1; n=17), and HPT of uremia (n=31). In comparison to age- and sex-matched controls, the b, a and T alleles were overrepresented in 100 menopausal females with spHPT (p=0.006-0.0004), equivalent to an odds ratio of 2.6-3.4 for spHPT in homozygotes for the b, a and, T alleles. The association between VDR genotypes and spHPT was restricted to female patients and those with parathyroid adenoma (p=0.0006-0.0001), whereas HPT of MEN 1 and uremia seemed unrelated to the VDR polymorphisms (p=0.26-0.96). The results suggest that the VDR alleles b, a, and T are novel risk factors in the essentially uncharacterized pathogenesis of spHPT. (C) 1997 Academic Press.