Abstract
BackgroundMany osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is to explore whether the reported OA susceptibility genes and two genes that may link to OA pathophysiology are associated with KBD in the Tibetan population.MethodFifteen single-nucleotide polymorphisms (SNPs) in 12 candidate genes previously reported as OA susceptibility loci were selected for investigation. Genotyping was performed using the SNaPshot method for these SNPs in a Tibetan population composed of 849 KBD patients and 565 normal controls. Meanwhile, the coding regions of two genes, COL10A1 and HABP2, which may involve in the pathological mechanism of OA/KBD, were sequenced by Sanger sequencing to identify susceptibility coding variants for KBD in the Tibetan population.ResultsThe two arthritis-susceptible candidate SNPs, rs7775 (p.Arg324Gly) in the FRZB gene and rs7033979 in the ASPN gene, showed associations with KBD (OR = 1.568, P = 4 × 10−3 and OR = 0.744, P = 8 × 10−3, respectively). The coding variants rs142463796 (p.Asp128Asn) and rs2228547 (p.Gly545Arg) in the COL10A1 gene (OR = 9.832 and P = 6 × 10−3 and OR = 1.242, P = 0.043, respectively) and rs548354451 (p.Asp272Glu) in the HABP2 gene (OR = 2.813, P = 0.010) were associated with KBD patients.ConclusionThese finding suggested that rs7775 in the FRZB gene may increase susceptibility to KBD, while rs7033979 in the ASPN gene may play a protective role in susceptibility to KBD in Tibetans. Moreover, genetic variants in chondrogenesis-related genes COL10A1 and HABP2 may play a role in the risk of developing KBD in the Tibetan population.
Highlights
Many osteoarthritis (OA) susceptibility genes have been identified in recent years
The coding variants rs142463796 (p.Asp128Asn) and rs2228547 (p.Gly545Arg) in the Collagen Type X Alpha Chain (COL10A1) gene (OR = 9.832 and P = 6 × 10−3 and OR = 1.242, P = 0.043, respectively) and rs548354451 (p.Asp272Glu) in the Hyaluronan binding protein 2 (HABP2) gene (OR = 2.813, P = 0.010) were associated with Kashin-Beck disease (KBD) patients. These finding suggested that rs7775 in the Frizzled-related protein (FRZB) gene may increase susceptibility to KBD, while rs7033979 in the ASPN gene may play a protective role in susceptibility to KBD in Tibetans
Genetic variants in chondrogenesis-related genes COL10A1 and HABP2 may play a role in the risk of developing KBD in the Tibetan population
Summary
Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is to explore whether the reported OA susceptibility genes and two genes that may link to OA pathophysiology are associated with KBD in the Tibetan population. Kashin-Beck disease (KBD) was first hinted as an endemic blight in 1849 by a Russian surveyor who noted that people in villages along the Urov River suffered bone deformities. A few years later, a Cossack doctor, Nikolai Kashin, described Urov disease [1]. The general presumption is that risk factors for this disease are nutritional deficiency of selenium and iodine and environmental contamination with mycotoxins and fulvic acid (FA). Selenium and/or iodine have been considered the most important deficiencies associated with KBD [6, 7]. Cold and hypoxia may be precipitating factors for KBD, consistent with the fact that all KBD-endemic regions are cold and/or hypoxic
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