[Transmission disequilibrium test for 15 short tandem repeat loci in Kashin-Beck disease and their interaction with low selenium].

OBJECTIVE: To identify the genetic susceptibility to Kashin-Beck disease (KBD) and explore the interaction between low selenium (Se) and the susceptibility gene loci in KBD. METHODS: The DNA samples collected from 23 KBD nuclear families were analyzed using PCR and GeneScan Analysis 3.7 and Genotyper3.7 software. The haplotype relative risk (HRR) and transmission disequilibrium test (TDT) were used to test the data of the genotypes. The serum selenium (Se) concentration was measured by atomic fluorescence spectrometry, and the interaction between low Se and the susceptibility loci was calculated using a binary logistic regression. RESULTS: In the 23 nuclear families, the alleles of D2S151 (248 bp), D2S305 (320 bp), and D11S4094 (194 bp) showed significant correlation to KBD (P<0.05). Serum Se concentrations in the studied individuals was 0.037 µg/ml. No significant statistical interaction was observed between low Se exposure and the susceptibility loci (P>0.05). CONCLUSION: The polymorphisms in the STR loci D2S305, D2S151, and D11S4094 or the polymorphism loci near them might been related to KBD susceptibility. Low Se exposure shows no significant interaction with the susceptibility loci.

[Serum hyaluronic acid, tumor necrosis factor -alpha, vascular endothelial growth factor, NO, and Se levels in adult patients with Kashin-Beck disease].

OBJECTIVE: To investigate the association of serum levels of hyaluronic acid (HA), tumor necrosis factor-alpha (TNF-alpha), vascular endothelial growth factor (VEGF), NO, and Se with the clinical manifestations in adult patients with Kashin-Beck disease (KBD). METHODS: Total 216 adults were selected for KBD screening from the KBD-prevalent areas in Yongshou county and the non-KBD areas of Chang'an county, Xi'an city, ShaanXi Province. According to the National Diagnostic Criteria of Kashin-Beck Disease in China, the diagnoses of KBD was established in 25 adult patients (11 men and 14 women, average age of 47.88+/-11.16 years), and 20 healthy control subjects from the KBD areas (8 men and 12 women, average age of 47.85+/-12.05 years) and 20 from the non-KBD areas (8 men and 12 women, average age of 47.45+/-11.24 years) were also selected to serve as controls. There was no significant difference in the average age and gender distribution between the 3 groups. The serum levels of HA, TNF-alpha, VEGF, NO and Se were measured by enzyme-linked immunosorbent assay, nitrate reductase method and griphite furnace atomic absorption spectrometry. RESULTS: Serum NO level was significantly higher in KBD group (41.7+/-21.89 micromol/L) than in the health controls from KBD areas (17.1+/-13.01 micromol/L) and non-KBD areas (17.58+/-11.48 micromol/l, F=13.11, df=2, P<0.001). Serum TNF-alpha level in KBD group (32.7+/-3.55 pg/ml) was significantly higher than that in the control subjects from the non-KBD areas (30.95+/-2.22 pg/ml, F=3.672, df=2, P=0.031), but similar with the control subjects from the KBD areas (32.7+/-3.55 pg/ml). Serum TNF-alpha and NO levels were identified as the indices that differed between adult KBD patients and the controls from both KBD and non-KBD areas by differential analysis (the function of differentiation was 0.062xNO+0.173xTNF -7.218). CONCLUSION: Serum TNF-alpha and NO levels are significantly increased in adult KBD patients and are associated with the clinical manifestations of KBD.

[Changes of the content of Se and the levels of several cytokines in the serum of patients with Kaschin-Beck disease].

AIM: To investigate the levels of selenium (Se) and several cytokines (TNF-alpha, VEGF and IL-1beta) in the serum of patients with Kaschin-Beck disease (KBD). METHODS: 90 subjects were selected, from KBD areas and non-KBD areas of Lhasa, Tibet. Then they were divided into 3 groups: the group with KBD (30), the control in KBD areas (30), and the control in non-KBD areas (30). There was no obvious difference in sex and age in the three groups. The content of Se in the serum was detected by atomic fluorescent spectrometer and the level of cytokines (TNF-alpha, VEGF and IL-1beta) in the serum were detected by ELISA. RESULTS: The content of Se in the serum of persons living in the KBD-disease areas were lower than that of persons living in non-KBD disease areas. The levels of TNF-alpha, VEGF and IL-beta in KBD group were higher than those in normal control group (P<0.05). The content of Se had negative correlation with the levels of TNF-alpha and IL-beta in serum. CONCLUSION: The decrease of Se content and increase of the levels of TNF-alpha, VEGF and IL-1beta may play a role in pathogenesis of KBD.