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Polymorphism in rs2229783 of the Alpha 1(XI(3)
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摘要:Table of Genotype and Allele Frequencies between Cases and ControlsSNPsGenotype (%)*Minor Allele Frequency (%) KBD (N = 274)Controls (N = 248)P ValuesKBDControlsP Values rs.0/14.6/0.482.3/16.9/ rs.5/1
Table of Genotype and Allele Frequencies between Cases and ControlsSNPsGenotype (%)*Minor Allele Frequency (%) KBD (N = 274)Controls (N = 248)P ValuesKBDControlsP Values rs.0/14.6/0.482.3/16.9/ rs.5/13.2/0.483.5/15.7/ rs.8/30.3/2.970.2/26.2/ rs.3/35.0/3.667.5/28.1/ rs47.8/37.9/14.347.4/45.3/ rs.0/42.1/5.953.2/37.4/ rs.9/35.8/3.368.4/28.7/ rs70.4/27.7/1.853.9/41.3/ rs.9/15.7/0.481.8/17.4/ rs.5/45.6/9.945.3/46.4/ rs.6/15.1/0.481.4/17.8/ rs.2/35.2/3.767.1/28.1/ rs.8/15.8/0.481.4/17.8/ rs.5/23.4/2.269.2/29.6/ rs.6/15.1/0.482.1/17.1/ rs.2/35.2/3.767.3/27.8/ rs.8/16.4/0.783.9/16.1/ rs.0/11.7/0.486.7/13.3/ rs.0/11.7/0.483.8/16.2/ rs.2/12.4/0.483.8/16.2/ rs47.8/37.1/15.148.6/42.5/ rs.9/15.7/0.481.8/17.4/
Table 2. Analysis of Association of the 22 SNPs Gene Polymorphism with the Risk of KBDSNPsGenotype Model*Dominant ModelRecessive ModelAllele Model** AAABBB OR (95% CI)OR (95% CI)OROR (95% CI)OR (95% CI)OR (95% CI) rs.45 ()0.75 ()1.000.82 ()0.45 ()0.74 () rs.46 ()0.81 ()1.000.80 ()0.47 ()0.79 () rs.92 ()1.24 ()1.001.16 ()0.79 ()1.13 () rs.95 ()1.40 ()1.001.30 ()0.81 ()1.21 () rs1.96 ()a0.76 ()1.000.98 ()2.13 ()a1.17 () rs.74 ()1.07 ()1.001.05 ()0.60 ()0.95 () rs.22 ()1.40 ()1.001.39 ()1.17 ()1.28 () rs0.48 ()0.71 ()1.000.49 ()b0.35 ()0.73 () rs.44 ( )0.88 ( )1.000.86 ()0.45 ()0.85 () rs.04 ( )0.99 ( )1.001.03 ()1.24 ()1.00 () rs.45 ()0.74 ()1.000.80 ()0.47 (0.04/5.80)0.74 () rs.93 ()1.41 ()1.001.29 ()0.74 ()1.21 () rs.45 ()0.77 ()1.000.85 ()0.47 ()0.76 () rs.47 ()0.69 ()1.000.78 ()1.85 ()0.79 () rs.45 ()0.76 ()1.000.84 ()0.45 ()0.76 () rs.89 ()1.44 ()1.001.31 ()0.74 ()1.21 () rs/ 0.99 ()1.001.08 ()/1.07 () rs/0.81 ()1.000.89 ()/0.87 () rs/0.62 ()1.000.71 ()/0.69 () rs/0.66 ()1.000.76 ()/0.72 () rs1.84 ()a0.79 ()1.001.03 ()1.81 ()a1.16 () rs.44 ()0.88 (01.000.85 ()0.41 ()0.85 ()
Table 3. Comparison of Genotype and Allele Frequencies of rs in COL11A1 among Subjects of Different Clinical Stages of KBDKBD StagesAlleles (%)Genotypes (%)Recessive Model (%)Dominant Model (%) AGAAAGGGAA + AGGGAAAG + GG I(n = 158) II (n = 85) III (n = 31) χ2 P
In conclusion, the rs polymorphism of the COL11A1 gene is significantly associated with the risk of KBD but not the severity of KBD in the northwest Han Chinese population, and the expression level of COL11A in cartilage was significantly lower in the KBD group, the A allele of rs may induce a relative increase in COL11A expression and be implicated as a protective factor against KBD. Our results should lead to a better understanding of the pathogenic mechanism of KBD. In addition, due to the relatively small number of subjects, our findings are considered preliminary and need to be validated in further studies using larger sample sizes of these subpopulations.
The authors acknowledge help with sample collection from the Centers for Disease Control and Prevention of Linyou and Yongshou counties. We also thank the patients and controls for participating in this study.
#Correspondence should be addressed to Prof GUO Xiong, Tel: 86-29-, E-mail:
Biographical note of the first author: SHI Xiao Wei, female, born in 1971, PhD, majoring in molecular mechanisms of cartilage and bone disease.
The purpose of this study was to explore whether genomic polymorphisms in the alpha 1(XI) collagen gene (COL11A1) were associated with the risk and severity of Kashin-Beck disease (KBD). Twenty-two single nucleotide polymorphisms (SNPs) inCOL11A1 were genotyped in 274 KBD cases and 249 healthy controls using the Sequenom MassARRAY system. The expression of type XI collagen (COL11A) in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry. Our results showed that the frequency distribution of genotypes of the rs polymorphism inCOL11A1 was significantly different between the KBD and control groups (P =0.0003). Moreover, the expression level of COL11A in cartilage was significantly lower in the KBD group than in the controls (t =2.637,P =0.02). However, no association was found between the rs and the severity of KBD, suggesting a role ofCOL11A1 in the susceptibility to but not the severity of KBD.
Kashin-Beck disease (KBD) is an endemic and chronic osteochondropathy mainly distributed over a limited area from southeastern Siberia extending to northeast and southwest China. A key pathological feature of KBD is chondrocyte necrosis in the deep zone of the growth plate of cartilage and articular cartilage[1]. The etiology of KBD remains unclear; recent epidemiological and genetic study results suggest that the interaction between environmental factors and susceptibility genes might play a role in the disease[2]. Certain susceptibility genes may affect susceptibility to environmental factors, such as selenium de?ciency or other biologic factors[3].
Type XI collagen (COL11A), a cartilage-specific extracellular matrix (ECM) protein, is important for cartilage-collagen fibril formation and for ECM organization. It participates in fibril formation with other cartilage-specific collagens (type II and IX collagens) and regulates the diameter of cartilage collagen fibrils. Polymorphisms in theCOL11A1 gene have been shown to associate with lumbar disc herniation (LDH)[4]. Mutations inCOL11A1 have also been shown to result in relatively mild chondrodysplasias associated with osteoarthritis (OA). Given that KBD has been found to have overlapping phenotypes and pathologic changes similar to those of OA and rheumatoid arthritis (RA)[5], we hypothesized that, as in OA and RA, genetic variants, in addition to environmental factors, may play an important role in the etiology and pathogenesis of KBD, and phenotypic expression of types I, II, III, and X collagen in chondrocytes culturedin vitrowere significantly different between KBD and control cultures[6]. However, the role ofCOL11A in the pathology of KBD remains unknown. In this study, for the first time, we evaluate the impact of genomic polymorphisms inCOL11A1 on the risk and progression of KBD.
文章来源:《西北园艺》 网址: http://www.xbyyzz.cn/qikandaodu/2020/0821/434.html
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