Dataset Information

Investigation of MMP-1 genetic polymorphisms and protein expression and their effects on the risk of Kashin-Beck disease in the northwest Chinese Han population.

ABSTRACT: The etiology of Kashin-Beck disease (KBD), an endemic osteochondropathy, is largely unknown. Matrix metalloproteinase-1 (MMP-1) plays a central role in the initiation and progression of cartilage destruction; however, no study has reported on the relationship between KBD and MMP-1. This study was to investigate the role of MMP-1 in the pathogenesis and progression of KBD.Single nucleotide polymorphism (SNP) genotyping was conducted for 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Additionally, the expression of MMP-1 in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry, and the concentration of MMP-1 in their joint fluid was also measured by enzyme-linked immunosorbent assay (ELISA).The results showed that two SNPs (rs470221 and rs1144396) had a weak association with increased KBD risk; however, the significance of these results did not survive Bonferroni's correction. Moreover, the percentages of cells expressing MMP-1 in each layer of cartilage were significantly higher in the KBD group than in the controls (F?=?11.41-28.31, P?=?0.002-0.000). The concentration of MMP-1 in KBD joint fluid was significantly higher than that in the controls (t?=?9.83, P?

SUBMITTER: Shi X

PROVIDER: S-EPMC4888510 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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Investigation of MMP-1 genetic polymorphisms and protein expression and their effects on the risk of Kashin-Beck disease in the northwest Chinese Han population.

Shi Xiaowei X Lv Aili A Ma Jing J Zhang Feng F Wen Yan Y Zhang Zengtie Z Guo Xiong X

Journal of orthopaedic surgery and research 20160531 1

<h4>Background</h4>The etiology of Kashin-Beck disease (KBD), an endemic osteochondropathy, is largely unknown. Matrix metalloproteinase-1 (MMP-1) plays a central role in the initiation and progression of cartilage destruction; however, no study has reported on the relationship between KBD and MMP-1. This study was to investigate the role of MMP-1 in the pathogenesis and progression of KBD.<h4>Methods</h4>Single nucleotide polymorphism (SNP) genotyping was conducted for 274 KBD cases and 248 hea ...[more]

PMID: 27245218

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Project description:BackgroundThis study is a comprehensive analysis of RHD in D-negative phenotypes in saline, in Xi'an, Shanxi province, central China.Material and methodsDCcEe in saline was measured for each blood sample from every donor between January 2008 and June 2012 in the Xi'an Blood Centre, China. D-negative results were confirmed by an indirect antiglobulin test and further investigated by adsorption-elution as required. The initial step of molecular analysis was RHD zygosity testing. Then RHD was detected by a sequence-specific polymerase chain reaction system for RHD(1227G>A), weak D type 15, and RHD(711delC) alleles for the samples carrying at least one RHD. For the remaining non-identified samples, ten RHD exons were amplified using a previously widely used RHD coding region sequencing method. Some RHD/RHCE conversion alleles were identified while those remaining were submitted to direct sequencing.ResultsOverall, 2,493 D-negative samples in saline were detected in a total of 890,403 donors (D-negative rate, 0.28%). Among the D-negative individuals, RHD deletion (d/d) was assessed in 1685 donors (67.59%). Non-functional RHD alleles were detected in 184 donors (7.38%), the most common being the RHD-CE(2-9)-RHD and RHD(711delC) alleles. Two new alleles were observed and family investigations were performed; RHD(1227G>A) DEL was detected in 516 individuals (20.70%), and weak D or partial D variants were identified in 108 donors (4.33%). The most common alleles were weak D type 15, D(VI) type 3 and D(V) type 2. Four new weak D alleles were noted, and two cases of RHD(1227G>A)/weak D type 15 heterozygosity were confirmed.ConclusionsCurrently, it seems to be difficult to observe any new RHD alleles in the Han Chinese population. D prediction in this population is easier because popular alleles are dominant, accounting for about 99.80% of alleles in D-negative people. Weak D types and partial D variants are rare and occur in approximately 0.01% of the population.

Dataset Information

Investigation of MMP-1 genetic polymorphisms and protein expression and their effects on the risk of Kashin-Beck disease in the northwest Chinese Han population.

Publications

Investigation of MMP-1 genetic polymorphisms and protein expression and their effects on the risk of Kashin-Beck disease in the northwest Chinese Han population.

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