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Polymorphism in rs2229783 of the Alpha 1(XI(5)
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摘要:Odds ratios and 95%CIs for KBD were calculated from an unconditional logistic regression model to evaluate relative risk (Table 2). Weakly increased KBD risks were observed among individuals with the
Odds ratios and 95%CIs for KBD were calculated from an unconditional logistic regression model to evaluate relative risk (Table 2). Weakly increased KBD risks were observed among individuals with the homozygote mutant genotype AA at rs (OR= 1.96,P =0.03) and CC at rs (OR= 1.84,P= 0.04), compared with the homozygous wild type GG (rs) and TT (rs). The two SNPs also showed an elevated KBD risk in the recessive model (OR= 2.13, 95%CI= andOR= 1.81, 95%CI= ), but the significance did not remain after Bonferroni correction. However, rs was associated with a decreased risk of KBD in the dominant model (OR= 0.49, 95%CI= ,P= 0.0001), which remained significant after Bonferroni correction for multiple testing. These results suggest that polymorphism inCOL11A1 is associated with susceptibility to KBD: carriers of the mutant allele ‘A’ in rs have a decreased risk for KBD relative to those homozygous for the wild type allele ‘G’.
To explore whether rs contributes to the severity of KBD, the effect of rs on the clinical stage of KBD was further observed in the KBD group. When the allele and genotype frequencies were compared according to clinical stage of KBD, no significant association was detected. Dominant and recessive models were also applied to rectify this, and the results showed a lack of association between polymorphisms of rs and the severity of KBD (Table 3).
KBD is an endemic OA with a specific geographical distribution. In the present study, we first investigated the associations between 22 SNPs in theCOL11A1 gene and the corresponding risk of KBD in a Han Chinese population. A coding region single nucleotide polymorphism (cSNPs) rs (Ile1602Ile) showed a significant association with the risk of KBD. The results suggested that polymorphisms in theCOL11A1 gene play an important role in the risk of KBD in the Han Chinese population. Subjects who carry allele ‘A’ in rs have a lower risk of KBD than those who do not. The polymorphic locus rs, which is located in exon 62 ofCOL11A1, has been reported to be a susceptibility locus for LDH[4]. However, there are limited studies on the function of rs in osteoarthropathy. The effects of rs on clinical characteristics of KBD (clinical stages of KBD) were further observed in the KBD group in our study; dominant and recessive models were also applied to rectify it. However, our data showed a lack of association betweenCOL11A1 gene polymorphism and severity of KBD in the northwest Han Chinese population. These results suggest a role ofCOL11A1 in the susceptibility to but not in the severity of KBD. Polymorphisms of theCOL11A1 gene may play an important role in determining the expression ofCOL11A and should be correlated with cartilage destruction via changes in the expression ofCOL11A related to KBD. In the present study, the expression ofCOL11A in articular cartilage of the knee was further analyzed by immunohistochemistry. Our results showed that the percentages of cells that stained positive forCOL11A was lower in the KBD group than in the is a quantitatively minor component of cartilage collagen fibrils, but it is essential for the interaction between proteoglycan (PG) aggregates and collagens, and the highly oriented network of the fibrillar collagens offers tensile strength[10]. However, the expression ofCOL11A was lower in knee articular cartilage of KBD, and the reduction inCOL11A, the critical organizer of ECM, ultimately causes disintegration of the ECM and joint degeneration related to KBD. Therefore, we believe that the A allele of rs may induce a relative increase inCOL11A expression compared with the G allele, and this increase may be associated with a reduced risk of KBD; further studies should be carried out to explore it.
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 ()
文章来源:《西北园艺》 网址: http://www.xbyyzz.cn/qikandaodu/2020/0821/434.html
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