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 Tt) 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.
Carling
T
T
Department of Surgery, Uppsala University Hospital, Sweden. Tobias.Carling@kirurgi.uu.se
Kindmark
A
A
Hellman
P
P
Holmberg
L
L
Akerström
G
G
Rastad
J
J
D000483:Alleles; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000150:complications*; D011110:Polymorphism, Genetic; D015995:Prevalence; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D014511:Uremia / Q000150:complications*
D018167:Receptors, Calcitriol