The Influence of CTGF Single-Nucleotide Polymorphisms on Outcomes in Crohn's Disease

Burke, John P.; O'Connell, Robert; Lennon, Gráinne; Doherty, Glen; Keegan, Denise; O’Donoghue, Diarmuid; Mulcahy, Hugh; Hyland, John; Winter, Desmond C.; Sheahan, Kieran; O’Connell, P. R.

doi:10.1097/sla.0000000000000247

Cited by 9 publications

(5 citation statements)

References 46 publications

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“…The CC minor allele homozygote of CTGF variant rs6918698 is located in the promoter at -945 and is a significant risk factor for the progression of hepatitis C virus-related chronic liver disease, including hepatocellular carcinoma (36). The GG major allele homozygote of CTGF variant rs6918698 was associated with an older age of onset of Crohn's disease (37). A meta-analysis found that CTGF rs6918698 CG heterozygotes and minor allele CC homozygotes had a greatly decreased susceptibility to systemic sclerosis in Asian (38) and French (39) populations.…”

Section: Continuedmentioning

confidence: 99%

Association of Polymorphisms in Connective Tissue Growth Factor and Epidermal Growth Factor Receptor Genes With Human Longevity

Donlon

Morris

et al. 2016

GERONA

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Growth pathways play key roles in longevity. The present study tested single-nucleotide polymorphisms (SNPs) in the connective tissue growth factor gene (CTGF) and the epidermal growth factor receptor gene (EGFR) for association with longevity. Comparison of allele and genotype frequencies of 12 CTGF SNPs and 41 EGFR SNPs between 440 American men of Japanese ancestry aged ≥95 years and 374 men of average life span revealed association with longevity at the p < .05 level for 2 SNPs in CTGF and 7 in EGFR. Two in CTGF and two in EGFR remained significant after Bonferroni correction. The SNPs of both CTGF and EGFR were in a haplotype block in each respective gene. Haplotype analysis confirmed the suggestive association found by χ2 analysis. We noted an excess of heterozygotes among the longevity cases, consistent with heterozygote advantage in living to extreme old age. No associations of the most significant SNPs were observed in whites or Koreans. In conclusion, the present findings indicate that genetic variation in CTGF and EGFR may contribute to the attainment of extreme old age in Japanese. More research is needed to confirm that genetic variation in CTGF and EGFR contributes to the attainment of extreme old age across human populations.

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Section: Continuedmentioning

confidence: 99%

Association of Polymorphisms in Connective Tissue Growth Factor and Epidermal Growth Factor Receptor Genes With Human Longevity

Donlon

Morris

et al. 2016

GERONA

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“…FHypoMR 3 was associated with the connective tissue growth factor gene. The protein encoded by this gene is a mitogen which is involved in cell adhesion and chondrocyte proliferation and differentiation in multiple cell types (36). FHypoMR 4 was associated with the kinesin family member 1B gene.…”

Section: Resultsmentioning

confidence: 99%

Detection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis

Wang

Liu

Zhao

et al. 2017

Molecular Medicine Reports

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The discovery of cell-free DNA fetal (cff DNA) in maternal plasma during pregnancy provides a novel perspective for the development of non-invasive prenatal diagnosis (NIPD). Against the background of maternal DNA, the use of the relatively low concentration of cff DNA is limited in NIPD. Therefore, in order to overcome the complication of the background of maternal DNA and expand the scope of cff DNA application in clinical practice, it is necessary to identify novel universal fetal-specific DNA markers. The GeneChip Human Promoter 1.0R Array set was used in the present study to analyze the methylation status of 12 placental tissue and maternal peripheral blood whole-genome DNA samples. In total, 5 fetus differential hypermethylation regions and 6 fetus differential hypomethylation regions were identified. In order to verify the 11 selected methylation regions and detect the differential CpG sites in these regions, a bisulfate direct sequencing strategy was used. In total, 87 fetal differential methylation CpG sites were identified from 123 CpG sites. The detection of fetal differential methylation DNA regions and CpG sites may be instrumental in the development of efficient NIPD and in the expansion of its application in other disorders.

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“…Formalin fixation can induce DNA–protein crosslinkages which can prevent amplification; in addition, nucleic acid fragmentation may occur due to specimen aging or the pH of the fixative [32]. However, this technique is increasingly being employed successfully [14,33] and only amplifiable DNA was utilized in the current study. Furthermore, when compared with whole blood leucocytes, no‐call and discordant‐call rates are below concerning thresholds, showing that formalin‐fixed archival tissue is a viable DNA source for genomic analysis [34].…”

Section: Discussionmentioning

confidence: 99%

“…A generic genetic model (AA, AB, BB) and a dominant model (AA + AB > BB) was used to determine associations between individual SNPs and the development of colorectal cancer. The generic model is powered to detect an imbalance in any of the three genotypes and the dominant model is powered to detect a change in risk with one or both risk alleles present [14]. Kaplan–Meier estimates were calculated to examine recurrence rates.…”

Section: Methodsmentioning

confidence: 99%

A case–control study examining the association of smad7 and TLR single nucleotide polymorphisms on the risk of colorectal cancer in ulcerative colitis

et al. 2021

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Aim Ulcerative colitis (UC) is characterized by chronic mucosal inflammation and an increased risk of colorectal cancer. smad7, TLR2 and TLR4 modulate intestinal inflammation and their polymorphisms affect the risk of development of sporadic colorectal cancer. The aim of the current study was to examine the association between single nucleotide polymorphisms (SNPs) in smad7, TLR2 and TLR4 and the development of colorectal cancer in patients with UC. Method DNA was extracted from formalin‐fixed, paraffin‐embedded tissue from 90 patients with UC who had undergone panproctocolectomy between 1985 and 2013 (30 with UC‐associated colorectal cancer and 60 control UC patients). Control cases were matched 2:1 for age at diagnosis of colitis, duration of disease and gender. Genotyping was performed for the smad7 rs4464148, rs11874392, rs12953717 and rs4939827 SNPs, the TLR2 rs5743704 and rs5743708 SNPs and the TLR4 rs4986790 and rs4986791 SNPs. Results Sixty three of the 90 patients (70%) were men and the mean age at diagnosis of UC was 38.6 ± 1.6 years. The mean time to the diagnosis of UC‐associated colorectal cancer was 13.5 ± 1.9 years. The 5‐year recurrence‐free and cancer‐specific survival rates were 76% and 88%, respectively. All eight SNPs were in Hardy–Weinberg equilibrium. None of the eight SNPs assessed in smad7, TLR2 or TLR4 were associated with the development of UC‐associated colorectal cancer at an allelic or genotypic level. Conclusions These data do not support an association between polymorphisms in smad7, TLR2 or TLR4 and the development of UC‐associated colorectal cancer.

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The Influence of CTGF Single-Nucleotide Polymorphisms on Outcomes in Crohn's Disease

Cited by 9 publications

References 46 publications

Association of Polymorphisms in Connective Tissue Growth Factor and Epidermal Growth Factor Receptor Genes With Human Longevity

Association of Polymorphisms in Connective Tissue Growth Factor and Epidermal Growth Factor Receptor Genes With Human Longevity

Detection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis

A case–control study examining the association of smad7 and TLR single nucleotide polymorphisms on the risk of colorectal cancer in ulcerative colitis

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