['To investigate the association between variants in the HLA-DRB1 gene and Kashin-Beck disease (KBD), as well as associations of selenium and iodine deficiencies with KBD in a Tibetan population.', 'Fourteen single-nucleotide polymorphisms (SNPs) were genotyped around the HLA-DRB1 gene, and HLA-DRB1 allele genotyping was performed in a discovery cohort, composed of 605 patients with KBD and 393 control subjects, and/or a replication cohort, composed of 290 patients with KBD and 295 controls. Plasma concentrations of selenium and iodine were measured and compared by t-test in 299 patients with KBD and 280 controls from the same villages.', 'Four SNPs (rs6457617, rs6457620, rs9275295, and rs7745040) in the HLA-DRB1 gene locus were significantly associated with KBD in both the discovery cohort and replication cohort (combined cohort odds ratios [ORs] 1.307-1.402, P = 0.0039-0.0006). The protective haplotype GTCC and the risk haplotype ACGT, each generated by the 4 SNPs, showed a significant association with KBD (for GTCC, OR 0.77, P = 0.0031; for ACGT, OR 1.40, P = 0.0014). HLA-DRB1 allele genotyping revealed that the frequencies of HLA-DRB1*08 and *11 were significantly different between patients with KBD and controls (for HLA-DRB1*08, OR 0.731, P = 0.00564; for HLA-DRB1*11, OR 0.489, P = 0.000395). Moreover, plasma concentrations of selenium and iodine were significantly different between patients with KBD and controls from the same villages (P = 0.0013 and P = 1.84 × 10(-12) , respectively).'] Are genetic variants in the HLA-DRB1 gene associated with Kashin-Beck disease in the Tibetan population?