Association between -1296T/C and -915A/G polymorphisms of matrix metalloproteinase inhibitor-3 gene and atherosclerotic cerebral infarction in an ethnic Han Chinese population.
- Author:
Zhou ZHENG
1
;
Xiaoping JIN
;
Min ZHU
;
Cai LI
;
Feng ZHU
;
Weiling LI
;
Qing LIN
;
Feng WANG
;
Wanfen WANG
;
Xiaofei HU
;
Chenling LYU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; ethnology; genetics; Atherosclerosis; blood; epidemiology; ethnology; genetics; Base Sequence; Cerebral Infarction; blood; epidemiology; ethnology; genetics; China; epidemiology; Female; Gene Frequency; Humans; Male; Middle Aged; Molecular Sequence Data; Polymorphism, Single Nucleotide; Risk Factors; Tissue Inhibitor of Metalloproteinase-3; blood; genetics
- From: Chinese Journal of Medical Genetics 2014;31(6):719-724
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the association between -1296T/C and -915A/G polymorphisms in the promoter region of matrix metalloproteinase inhibitor-3 gene (TIMP-3) and atherosclerotic cerebral infarction in an ethnic Han Chinese population.
METHODSPeripheral blood samples were collected from 485 patients with atherosclerotic cerebral infarction and 525 healthy controls. Serum levels of TIMP-3 were measured with an enzyme-linked immunosorbent assay (ELISA). The polymorphisms of the TIMP-3 gene were analyzed with DNA sequencing.
RESULTSThere were significant differences in genotype and allele frequencies in -1296T/C and -915A/G between the patients and healthy controls (chi-square: 5.227 and 5.869; P: 0.022 and 0.015, respectively). Besides, there was a strong linkage disequilibrium between -1296T/C and -915A/G (D'=1.0, r(2)=0.991). The serum levels of TIMP-3 in patients were significantly higher than the control group [(248.90 ± 97.10) pg/mL vs. (200.17 ± 79.70) pg/mL, t=2.098, P=0.039].
CONCLUSIONThe -1296T/C and -915A/G polymorphisms of the TIMP-3 gene are associated with increased risk for atherosclerotic cerebral infarction in ethnic Han Chinese and may be used as molecular markers for the disease. There is also strong linkage disequilibrium between the two loci.
