Genetics Research
rs243865
Population Frequencies12
African
C 0.94019T 0.05981CC 0.884192CT/TC 0.111996TT 0.003812pop=41,448
African American
C 0.93882T 0.06118CC 0.881551CT/TC 0.114538TT 0.003912pop=39,882
African Others
C 0.9751T 0.0249CC 0.951469CT/TC 0.047254TT 0.001277pop=1,566
Asian
C 0.918T 0.082CC 0.841463CT/TC 0.153092TT 0.005444pop=9,184
East Asian
C 0.918T 0.082CC 0.842306CT/TC 0.151441TT 0.006253pop=7,356
European
C 0.754643T 0.245357CC 0.569461CT/TC 0.370365TT 0.060174pop=217,634
Latin American 1
C 0.8406T 0.1594CC 0.703744CT/TC 0.273678TT 0.022577pop=3,632
Latin American 2
C 0.7784T 0.2216CC 0.611963CT/TC 0.332908TT 0.05513pop=9,396
Other
C 0.8131T 0.1869CC 0.665945CT/TC 0.294372TT 0.039683pop=5,544
Other Asian
C 0.9179T 0.0821CC 0.838074CT/TC 0.159737TT 0.002188pop=1,828
South Asian
C 0.8591T 0.1409CC 0.734761CT/TC 0.248764TT 0.016474pop=1,214
Studies34
Unread Studies34 ▼
1
Renal cell carcinoma (RCC) accounts for more than 90% of kidney malignancies worldwide. Matrix metalloproteinase-2 (MMP-2) has been reported to be dysregulated in multiple cancers. However, the relationship between MMP-2 genetic polymorphisms and RCC risk has rarely been investigated. This study aimed to evaluate the associations of two promoter polymorphisms, MMP-2 rs243865 and rs2285053, with RCC susceptibility in a Taiwanese population. A hospital-based case-control study was conducted includ…
2
Insulin resistance is a vital component in the diagnosis of prediabetes. Understanding the factors that influence its development and the course of metabolic disorders should include individual genetic predispositions, which may provide insight into etiology and potential prevention strategies. In this study, we examined associations between MMP-2 -1306 C/T (rs243865) and MMP-9 -1562 C/T (rs3918242) single-nucleotide polymorphisms, serum levels of MMP-2, MMP-9 and TIMP-1, and the occurrence of i…
3
Background/Objectives: Obesity is characterized by chronic low-grade inflammation, which plays a central role in the development of its metabolic complications. The genetic factors influencing this inflammatory phenotype remain incompletely understood. This study aimed to analyze the associations of functional polymorphisms in genes involved in extracellular matrix remodeling (MMP2, MMP9, MMP12, COL1A1), metabolism (MTHFR, CYP3A5), and vascular regulation (NOS3, AGTR1) with plasma cytokine profi…
4
This study aimed to investigate the association between MMP-2 rs243865 and TIMP-2 rs8179090 gene polymorphisms and skin barrier function, as well as inflammatory cytokine levels, in acne patients, to explore potential genetic mechanisms underlying acne pathogenesis. A total of 200 acne patients and 100 healthy controls were enrolled. Genotyping was performed using PCR-RFLP. Skin barrier function was assessed via transepidermal water loss (TEWL) and hydration measurements. Serum levels of IL…
5
Background/Aim: Bladder cancer (BLCA) is a prevalent malignancy globally, particularly in Taiwan, where its incidence continues to rise. While environmental exposures such as smoking play critical roles in BLCA etiology, genetic predispositions also contribute significantly. Matrix metalloproteinase-2 (MMP-2), a key enzyme involved in extracellular matrix remodeling, has been implicated in BLCA progression. This study investigated the associations of two promoter polymorphisms in the MMP-2 gene,…
6
Background The matrix metalloproteinase-2 (MMP2) rs243865 polymorphism has been associated with cardiovascular events; however, its impact on difficult-to-control hypertension remains unclear. This study aims to assess the characteristics of rs243865 polymorphism and its association with target organ damage in adult patients with difficult-to-control hypertension in Vietnam. Methods A cross-sectional study was conducted on 70 difficult-to-control hypertensive patients at two medical centers in S…
7
Matrix metalloproteinases (MMPs) play a crucial role in successful pregnancy as molecular regulatory factors of the developing organism. Additional studies focusing on MMPs activity and function in fetal growth retardation (FGR) may help in the search for diagnostic markers of this pregnancy complication. To study the association of MMPs gene polymorphisms with the development of FGR. This case-control study included 122 pregnant women with FGR and 243 pregnant women with normal birth weight. We…
8
Background/Objectives: Hypoxic-ischemic encephalopathy (HIE) is a common neurological outcome of perinatal asphyxia, with cerebral palsy (CP) being the most severe lasting effect. Perinatal brain injury activates the immune system and induces the release of inflammatory mediators. Matrix Metalloproteinases (MMPs) play a crucial role in neuroinflammation and neurodegeneration. This study explored the potential link between MMP2 promoter polymorphisms and the development of CP in children with a h…
9
Atrial fibrillation (AF) is a common arrhythmia caused by genetic modifications affecting biological processes such as cell communication, inflammation, and ion channels. Changes that occur over time happen gradually. By understanding the functional significance of these variations, we have analyzed single nucleotide polymorphisms (SNPs) in matrix metalloproteinase 2 (MMP-2), connexin 43 (GJA1/CX43), and interleukin 6 receptor (IL-6R) in patients aged 65 or older who have been diagnosed with atr…
10
Objective: The aim of the present study was to investigate the association of polymorphic variants in matrix metalloproteinase-2 (MMP-2) and matrix metalloproteinase-3 (MMP-3) genes and the occurrence of persistent apical periodontitis (PAP). Methods: DNA samples from 180 individuals were recruited and divided into two groups: Case group, 79 subjects with a history of PAP; control group, 101 healthy subjects. Five single nucleotide polymorphisms (SNPs) were selected for genotyping: rs243865, rs2…
11
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic disorders characterized by excessive proliferation of one or more myeloid lineages, frequently accompanied by an elevated risk of thrombotic events. Matrix metalloproteinases (MMPs), a family of zinc-dependent endopeptidases, are implicated in numerous inflammatory and vascular pathophysiological processes. In this study, we analyzed the association between selected MMP polymorphisms, rs1799750, rs243865, rs3025058, rs3918242, and rs17…
12
Background Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) are critical regulators of extracellular matrix (ECM) proteolysis and play a pivotal role in trophoblast invasion during embryo implantation. This study aimed to investigate the effects of single-nucleotide polymorphisms (SNPs) in MMP and TIMP genes on clinical outcomes in women undergoing in vitro fertilization (IVF). Methods This retroprospective study included 1014 women undergoing their first fres…
13
Association of MMP-2 Variant with Atrial Fibrillation in Elderly Patients: A Comparative Analysis Involving GJA1 and IL-6R Variants.
14
Abstract Background/Aim: The role of matrix metalloproteinase-2 (MMP-2) in leiomyoma pathogenesis has been suggested, but the association between MMP-2 genotypes and leiomyoma risk remains unexplored. This study investigated the impact of two MMP-2 polymorphisms, promoter -1306 (rs243865) and promoter -735 (rs2285053), on leiomyoma susceptibility. Materials and Methods: MMP-2 genotypes were analyzed in a cohort of 216 leiomyoma females and 648 non-leiomyoma controls using PCR-based RFLP. Results…
15
Abstract Background Resistant hypertension (RH) presents significant clinical challenges, often precipitating a spectrum of cardiovascular complications. Particular attention recently has focused on the role of matrix metalloproteinase-2 (MMP-2) gene polymorphisms, implicated in hypertensive target organ damage (TOD). Despite growing interest, the specific contribution of MMP-2 polymorphisms to such damage in RH remains inadequately defined. Objective This study is the first to examine the rs243…
16
Background: Variants of the matrix metalloproteinase (MMP) gene have been associated with multiple malignancies, including stomach, bladder, lung, breast, melanoma, squamous cell skin, and colorectal cancers. Genetic factors often slightly to moderately increase the risk of breast cancer. Objective: This study was conducted to ascertain the correlation between breast cancer patients in Bangladesh and the MMP2 rs243865 and MMP8 rs11225395 polymorphisms. Design: A case-control study Methods: The t…
17
Background: Peptide mediators such matrix metalloproteinases (MMPs) are primarily responsible for the development of cataract. It is also believed that serum interleukin-6 (IL-6 ) may have a role in the development of cataract. Objectives: The study aimed to investigate the potential correlation between cataract development and MMP-2 gene polymorphisms and the correlation between cataract and serum IL-6. Patients and methods: This cross-sectional study included 60 cataractous eyes of 60 patients…
18
ASSOCIAÇÃO DO POLIMORFISMO rs243865 DO GENE MMP2 COM CARACTERÍSTICAS CLÍNICO- LABORATORIAIS DE INDIVÍDUOS COM ANEMIA FALCIFORME
19
In open-angle glaucoma, the increase in intraocular pressure (IOP) is caused by an increased resistance to aqueous humour outflow in the trabecular meshwork. Since genetic variability of matrix metalloproteinase (MMP) genes may influence extracellular matrix remodelling, we investigated their association with glaucoma risk and/or response to treatment. The retrospective part of the study included patients with primary open-angle glaucoma and ocular hypertension (OHT); in the prospective part of…
20
Aim: To improve the treatment results of patients with anastomotic leaks by studying genetic predisposition. Materials and Methods: The object of this prospective study were 17 patients with anastomotic leaks. A group of 80 practically healthy people was tested as control. Real-time PCR was used to investigate polymorphisms: C-1306 →T (MMP2), rs243865 та G303→A (TIMP2), rs9900972.To assess the state of connective tissue metabolism. Free oxyproline in blood serum and the…
21
Matrix metalloproteinase-2 (MMP-2) has been implicated in the pathogenesis of breast cancer (BC). However, there is limited research on the role of MMP-2 genotypes in BC risk. This study aimed to investigate the associations between two MMP-2 promoter polymorphisms, rs243865 and rs2285053, and BC risk. MMP-2 genotypes were analyzed using PCR-based RFLP methodology in a cohort comprising 1,232 BC cases and 1,232 controls. Genotypic frequencies of MMP-2 rs243865 and rs2285053 in controls were cons…
22
Matrix metalloproteinase (MMP)-2 and -9, which degrade type IV collagen, are linked to cancer invasion and metastasis. Gene polymorphisms in MMP-2 and MMP-9 can influence their function, impacting cancer development and progression. This study analyzed the association between polymorphisms MMP-2 rs243865 (C-1306T), rs2285053 (C-735T), and MMP-9 rs3918242 (C-1562T) with serum concentrations of these enzymes in upper tract urothelial cancer (UTUC) patients. We conducted a case-control study with 2…
23
Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case-control study (n = 51 vs n = 102, respectively), the following single-nucleo…
24
Background & objectives: Japanese encephalitis virus (JEV) is one of the most important causes of acute and uncontrolled inflammatory disease in Asia. Matrix metalloproteinases (MMPs) and chemokines play a detrimental role in the host response to JE disease, aetiology, and disease outcome. Evidently, MMPs are widely circulated in the brain and regulate various process including microglial activation, inflammation, blood-brain barrier disruption as well as affects central nervous system (CNS). Th…
25
Abstract Background Primary ovarian insufficiency (POI) is a rare disease clinically characterized by ovarian follicles depletion or dysfunction and menopause before the age of 40 yr as the cut-off age for POI. It is a complex disease, and its etiology involves several factors. However, genetic factors have a predominant role in the susceptibility to the disease. Objective This study aims to investigate the polymorphisms of rs243865 in the matrix metallopeptidase 2 (MMP2) gene and rs2234693 and…
26
Alzheimer’s disease (AD) is a chronic neurodegenerative disease of the central nervous system with higher prevalence in elderly people. Despite numerous research studies, the etiopathogenesis of AD remains unclear. Matrix metalloproteinases (MMPs) are endopeptidases involved in the cleavage of extracellular matrix proteins and basement membrane compounds. In the brain, the pathological role of MMPs includes the disruption of the blood‐brain barrier leading to the induction of neuroinflammation.…
27
Aberrant tissue expression of matrix metalloproteinases has been observed in acne. Our objective was to study the relevance of MMP‐2 (‐1306 C/T, rs243865) and TIMP‐2 (‐418 G/C, rs8179090) single nucleotide polymorphisms (SNP) in acne and post‐acne scarring.
28
Bei Akne wurde eine abweichende Gewebeexpression von Matrix‐Metalloproteinasen beobachtet. Ziel unserer Studie war es, die Bedeutung von Polymorphismen einzelner Nukleotide (single nucleotide polymorphisms, SNPs) in MMP‐2 (‐1306 C/T, rs243865) und TIMP‐2 (‐418 G/C, rs8179090) bei Akne und Post‐Akne‐Narben zu untersuchen.
29
Objective: We aimed to determine whether a correlation exists between the polymorphisms of matrix metalloproteinases (MMPs) MMP2-C1306T (rs243865) and MMP7-181A/G (rs11568818) and cervical cancer (CC). Methods: A literature search up to September 28, 2018, in PubMed, the Cochrane Library, and Embase was conducted. Odds ratio (OR) and 95% confidence interval (CI) were used as effect models. The quality, heterogeneity, and publication bias of the included studies were assessed. Results: Five studi…
30
Purpose Several researchers have suggested that the rs243865 (16q13-q21) polymorphism in the promoter region of the metalloproteinase-2 (MMP-2) gene could be associated with an increased risk of developing age-related macular degeneration (AMD). However, previous results remain inconclusive. To clarify this controversy, we conducted a meta-analysis of the relationship between rs243865 of MMP-2 and AMD. Methods We included 6 independent case-control studies involving 1,682 AMD patients and 2,295…
31
Purpose: Age-related macular degeneration (AMD) is a disease of the macula that significantly affects eyesight and leads to irreversible central vision loss. Recent studies have demonstrated that angiogenesis is the most important mechanism of AMD development. It is associated with extracellular remodeling involving different proteolytic systems, among them matrix metalloproteinases (MMPs), which play an essential role in the etiopathogenesis of AMD. The main objective of the present study was t…
32
Prostate cancer is a common cancer in men. However, the association between the rs243865 single-nucleotide polymorphisms in the matrix metalloproteinase 2 gene (MMP2) and the risk for prostate cancer is inconclusive. We searched the PubMed, EMBASE, Cochrane Library, and the Chinese CNKI and WANFANG databases for the relevant literature. Data were extracted and pooled results were estimated from odds ratios (OR) with 95% confidence intervals (95% CIs). The quality of included studies was assessed…
33
The association between MMP2 −1306 C > T (rs243865) polymorphism and risk of prostate cancer
34
The MMP2 rs243865‐T allele is not a major genetic factor for rheumatoid arthritis in the French Caucasian population
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