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中国南方人群中细胞外基质金属蛋白酶-9基因单核苷酸多态性与原发性闭角型青光眼的关联研究

Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China.

作者信息

Cong Yanhong, Guo Xiangming, Liu Xing, Cao Dan, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Fang Shaohua, Zhang Qingjiong

机构信息

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, People's Republic of China.

出版信息

Mol Vis. 2009 Jul 24;15:1412-7.

PMID:19633731
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2714774/
Abstract

PURPOSE

To study the association of the single nucleotide polymorphisms (SNPs) rs17576 and rs2250889 in the extracellular matrix metalloprotease-9 (MMP-9) gene with primary angle closure glaucoma (PACG) in southern Chinese patients.

METHODS

DNA samples were obtained from 211 adult patients with PACG and 205 control subjects to study the relationships between SNPs in MMP-9 and PACG. Polymorphism analyses of rs17576 and rs2250889 in MMP-9 were performed using the polymerase chain reaction,restriction fragment length polymorphism (RFLP), and direct DNA sequencing techniques. The association between genetic polymorphisms and the risk of PACG were estimated by chi2 test and logistic regression.

RESULTS

Genotyping of the MMP-9 site (rs2250889) was significantly different between the two groups (P=0.004), and the odds ratio was OR=1.76 (95%CI: 1.264-2.449). The frequencies of the G/G genotype in the PACG and control groups were 9% and 2.9%, respectively. However, there were no significant differences between these two groups in the frequencies of the genotypes and alleles for rs17576 in MMP-9.

CONCLUSION

The SNP rs2250889 located in MMP-9 might be associated with PACG among southern Chinese people, and people with the G/G genotype are likely more susceptible to PACG. In contrast, the SNP rs17576 in MMP-9 might not be related to PACG in the same population.

摘要

目的

研究细胞外基质金属蛋白酶9(MMP-9)基因中的单核苷酸多态性(SNP)rs17576和rs2250889与中国南方原发性闭角型青光眼(PACG)患者的相关性。

方法

采集211例成年PACG患者和205例对照者的DNA样本,以研究MMP-9基因中的SNP与PACG之间的关系。采用聚合酶链反应、限制性片段长度多态性(RFLP)和直接DNA测序技术对MMP-9基因中的rs17576和rs2250889进行多态性分析。通过卡方检验和逻辑回归评估基因多态性与PACG风险之间的关联。

结果

两组间MMP-9位点(rs2250889)的基因分型存在显著差异(P = 0.004),优势比为OR = 1.76(95%CI:1.264 - 2.449)。PACG组和对照组中G/G基因型的频率分别为9%和2.9%。然而,两组间MMP-9基因中rs17576的基因型和等位基因频率无显著差异。

结论

位于MMP-9基因中的SNP rs2250889可能与中国南方人群的PACG相关,G/G基因型的人可能更易患PACG。相比之下,MMP-9基因中的SNP rs17576可能与同一人群的PACG无关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf6/2714774/413932114839/mv-v15-1412-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf6/2714774/079c449690e4/mv-v15-1412-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf6/2714774/413932114839/mv-v15-1412-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf6/2714774/079c449690e4/mv-v15-1412-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaf6/2714774/413932114839/mv-v15-1412-f2.jpg

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