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Am. J. Respir. Crit. Care Med., Volume 160, Number 4, October 1999, 1107-1109

Vitamin D Receptor Gene Polymorphism in Patients with Sarcoidosis

TAKASHI NIIMI, HIROSHI TOMITA, SHIGEKI SATO, HARUHIKO KAWAGUCHI, KENJI AKITA, HIROYOSHI MAEDA, YOSHIKI SUGIURA, and RYUZO UEDA

Second Department of Internal Medicine, Nagoya City University, Medical School, Nagoya, Japan; and Department of Internal Medicine, Toyokawa City Hospital, Toyokawa, Japan

The active form of vitamin D, 1,25-dihydroxyvitamin D3, is known to be produced at sites of granulomatous reactions in sarcoidosis. 1,25-dihydroxyvitamin D3 has multiple immunomodulatory effects, and acts as a promoter of multinucleated giant cell formation. Polymorphism of the vitamin D receptor (VDR) gene has recently been shown to be related to bone mineral density, and also associated with hyperparathyroidism and risk of prostatic carcinoma. Considering that this might affect sarcoidosis, we investigated polymorphism of the VDR gene in 101 patients with sarcoidosis and 105 healthy control subjects. Their genotypes were determined using polymerase chain reaction (PCR) and restriction fragment length polymorphism. In the patients with sarcoidosis, the BB, Bb, and bb genotypes accounted for 1.0%, 37.6%, and 61.4%, whereas in healthy control subjects the figures were 1.0%, 20.0%, and 79.0%, respectively. The difference in the genotype distribution between healthy control subjects and sarcoidosis patients was significant (p < 0.05) with the frequency of the B allele being elevated (p < 0.05). From the result, we suggest that in VDR gene polymorphism the B allele might be a genetic risk factor for sarcoidosis.




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Copyright © 1999 American Thoracic Society 		  New Orleans Int'l Conf