Extracellular matrix protein 1 gene rs3737240 single nucleotide polymorphism is associated with ulcerative colitis in Turkish patients

Adali, Güpse; Tunalı, Nagehan Ersoy; Yorulmaz, Elif; Tiryakioglu, Necip Ozan; Mungan, Sibel Güray; Ulaşoğlu, Celal; Enç, Feruze Yılmaz; Tuncer, İlyas

doi:10.5152/tjg.2017.17043

Cited by 6 publications

(6 citation statements)

References 29 publications

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“…On the other hand, despite the strong occurrence of the G allele in the CD group compared to the control group, a clear distinction among IBD patients (CD vs. UC analyses) could not be established. Similarly, as mentioned earlier, ECM1 SNP investigation in our population failed to replicate existing data [9,20] and, again, no distinction among IBD patients was found. Hence, in our study group, it is not possible to differentiate the underlying disease (CD or UC) based on genotypic-phenotypic associations, probably because of ethnic variations, but more patients and more widely associated susceptibility genes are needed to drive to a definite conclusion.…”

Section: Discussionsupporting

confidence: 74%

“…Additionally, ileal CD has also been associated with ATG16L1 variants [7]. On the other hand, in UC patients, severe disease behavior has been associated with polymorphisms of major histocompatibility complex genes [8], and azathioprine use with ECM1 gene polymorphisms [9].…”

Section: Introductionmentioning

confidence: 99%

“…Likewise, extracellular matrix protein-1 ( ECM1 ), a protein involved in epithelial barrier formation, has been associated with UC but not CD [9,18]. Inflammation in UC is limited only to the mucosal surface, and polymorphisms of genes that regulate epithelial barrier permeability play an important role in UC pathogenesis [19].…”

Section: Introductionmentioning

confidence: 99%

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ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

Tsianos

Kostoulas

Gazouli

et al. 2019

aog

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Background:Crohn’s disease (CD) and ulcerative colitis (UC) are well-described disease entities with unknown etiopathogenesis. Environmental, genetic, gut microbiota, and host immune response correlations have been implicated. The role of susceptibility gene polymorphisms, such as ATG16L1 T300A and ECM1 T130M and G290S, is well-described, although controversial findings have been reported.Methods:Two hundred five patients with inflammatory bowel disease (108 CD and 97 UC), and 223 healthy blood donors (control group) from the Northwest Greece region were genotyped for rs2241880 (T300A), rs3737240 (T130M) and rs13294 (G290S) single nucleotide polymorphisms. Genotyping was performed using the real-time polymerase chain reaction method.Results:The frequency of G allele was significantly higher in CD patients compared to the control group (P=0.029; odds ratio [OR] 1.45, 95% confidence interval [CI] 1.04-2.03). Carriers of two G alleles (T300A), compared to those carrying only one, were 1.3 times more susceptible to CD (P=0.022; OR 2.45, 95%CI 1.14-5.27). In CD patients, the presence of the T300A polymorphism indicates a possible protective effect against developing a penetrating (B3) phenotype, while in UC patients, presence of the T300A polymorphism, indicates a possible protective effect against developing joint-involving extraintestinal manifestations.Conclusion:Our study found a significant association of the T300A polymorphism with CD susceptibility, suggesting that CD occurrence in our population has a strong genetic background, with the T300A G allele having an additive effect.

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Section: Discussionsupporting

confidence: 74%

Section: Introductionmentioning

confidence: 99%

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ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

Tsianos

Kostoulas

Gazouli

et al. 2019

aog

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“…We therefore conducted this large case-control study to evaluate the effects of ECM1 on the progression of liver fibrosis in vivo . To our knowledge, our study is the first to have investigated the relationships between ECM1 SNPs and the development of chronic liver fibrosis; other articles on ECM1 SNPs have only involved extrahepatic diseases [ 18 , 20 , 26 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

“…Several studies identified genetic variants that are associated with inflammatory bowel disease, such as ulcerative colitis [ 18 , 19 ] and Crohn's disease [ 20 ]. However, the correlation between ECM1 gene polymorphisms and fibrogenic disease formation has not been reported.…”

Section: Introductionmentioning

confidence: 99%

Associations between Extracellular Matrix Protein 1 Gene Polymorphism and Progression of Liver Disease

Liu

Zhang

et al. 2022

Genetics Research

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Background. Our study aimed to investigate the relationship between extracellular matrix 1 (ECM1) gene polymorphism and progression of liver fibrosis in the Chinese population. Methods. A total 656 patients with hepatitis B virus (HBV) infection and 298 healthy individuals of the Chinese Han population were recruited for a retrospective case-control study. Of the disease group, 104 cases had chronic hepatitis B (CHB), 266 had LC, and 286 had hepatocellular carcinoma (HCC). Subjects were frequency-matched according to age and gender. Polymorphisms of the ECM1 gene were examined using the MassARRAY SNP genotyping method. Results. There were no associations between genotype and allele frequencies of ECM1 rs3737240 and rs13294 loci with the risk of CHB and CHB-related HCC. After adjustment for age, sex, smoking status, and drinking habits, the GT genotype was dramatically related to a reduced risk of chronic HBV infection in both non-HCC (OR = 0.68, 95% CI: 0.49-0.94) and total chronic HBV infection patients (OR = 0.75, 95% CI: 0.56-1.00). Haplotype analyses revealed twelve protective haplotypes against total chronic HBV infection and four against non-HCC chronic HBV infection. Conclusion. ECM1 gene polymorphism in rs3834087 and rs3754217 loci is associated with a reduced risk of chronic HBV infection but not with liver fibrosis development and the occurrence of HCC.

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Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain at different anatomic sites

Tsepilov

Freidin

Shadrina

et al. 2019

Preprint

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Chronic musculoskeletal pain has a negative impact on all aspects of human life. Genetic studies of pain are complicated by the high complexity and heterogeneity of pain phenotypes. In this research, we aimed to reduce phenotype heterogeneity and reveal genes and pathways shared by chronic musculoskeletal pain at four locations: back, neck/shoulder, hip, and knee. Our study was based on the results of genome-wide association studies performed using UK Biobank data with a total sample size of 456,000 individuals. We applied principal component analysis based on the matrix of genetic covariances between the studied pain traits and constructed four genetically independent phenotypes (GIPs). The leading GIP (GIP1) explains the largest proportion of the genetic variance of and covariance between the analyzed phenotypes (78.4%), and the later GIPs (GIP2-4) explain progressively less. We identified and replicated five loci associated with GIP1 and one locus associated with GIP2. The genes decisively prioritized for the GIP1-associated loci were SLC39A8, ECM1, and FOXP2. For the remaining two GIP1-associated loci, we proposed several candidates (AMIGO3, BSN, RBM6, FAM212A, RNF123, UBA7 and MIR7114, NSMF, NOXA1, GRIN1), but were unable to prioritize any of them convincingly. The most likely causal gene in the locus associated with GIP2 was GDF5. For GIP1, gene set/tissue/cell type enrichment analyses identified multiple terms related to the nervous system. Genetic correlations analysis revealed a genetic overlap between GIP1 and osteoarthritis as well as a set of anthropometric (such as overweight and waist circumference), sociodemographic (such as age of first birth and college completion) and psychiatric/personality (such as depressive symptoms and neuroticism) traits. We suggest that GIP1 represents a biopsychological component of chronic musculoskeletal pain, related to physiological and psychological aspects and likely reflecting pain perception and processing.

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Extracellular matrix protein 1 gene rs3737240 single nucleotide polymorphism is associated with ulcerative colitis in Turkish patients

Cited by 6 publications

References 29 publications

ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

Associations between Extracellular Matrix Protein 1 Gene Polymorphism and Progression of Liver Disease

Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain at different anatomic sites

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