Gene Polymorphisms and Inflammatory Bowel Diseases

Bartošová, Ladislava; Kolorz, Michal; Wroblova, Katerina; Bartos, Milan

doi:10.5772/53465

Inflammatory Bowel Disease 2012

DOI: 10.5772/53465

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Gene Polymorphisms and Inflammatory Bowel Diseases

Ladislava Bartošová¹,

Michal Kolorz²,

Katerina Wroblova³

et al.

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Cited by 3 publications

(1 citation statement)

References 175 publications

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“…While the TPMT*3C mutant allele, the most common mutant allele in Asia and Africa, contains an SNP (A719G in exon 10), it produces intermediate enzyme activity compared with the wild type. [24][25][26] The variation of TPMT enzyme activity in mutant alleles caused a significant difference in the level of 6-TGN in TPMT genotypes *1/*3A, which was significantly higher than TPMT genotype patients *1/ *3C. 27 In our study, the proportion of subjects with heterozygous mutant alleles was low, 1.9% (2/106).…”

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confidence: 44%

TPMT Genetic Variability and Its Association with Hematotoxicity in Indonesian Children with Acute Lymphoblastic Leukemia in Maintenance Therapy

Rosdiana

Setiabudy

Andalusia

et al. 2021

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Purpose Hematotoxicity monitoring in children with acute lymphoblastic leukemia (ALL) is critical to preventing life-threatening infections and drug discontinuation. The primary drug that causes hematotoxicity in ALL children is 6-mercaptopurine (6-MP). Genetic variability of the drug-metabolizing enzymes of 6-MP, thiopurine S -methyltransferase ( TPMT ), is one factor that might increase the susceptibility of children to hematotoxicity. The present study aimed to determine the variability in TPMT genotypes and phenotypes and its association with the occurrence of hematotoxicity in ALL children in maintenance therapy. Patients and Methods A cross-sectional study was conducted at Cipto Mangunkusumo and Dharmais National Cancer Hospital, Jakarta, Indonesia, from June 2017 to October 2018. We included ALL patients, 1–18 years, who were receiving at least one month of 6-MP during maintenance therapy according to the Indonesian protocol for ALL 2013. Direct sequencing was used to determine TPMT*3A, *3B , and *3C genotypes, and LC-MS/MS analysis was performed to measure the plasma concentrations of 6-MP and its metabolites. Association analysis between the TPMT genotype and hematotoxicity was evaluated using the unpaired t -test or Mann–Whitney’s test. Results The prevalence of neutropenia, anemia, and thrombocytopenia in ALL children during maintenance therapy was 51.9%, 44.3%, and 6.6%, respectively. We found a low frequency of TPMT*3C , which is 0.95%. No association was found between hematotoxicity and TPMT genotypes or age, nutritional status, serum albumin levels, risk stratification, the daily dose of 6-MP, and cotrimoxazole co-administration. However, hematotoxicity was associated with 6-methylmercaptopurine (6-MeMP) plasma concentrations and the ratio 6-MeMP/6-thioguanine (6-TGN). We also found no association between TPMT genotypes and TPMT phenotypes. Conclusion The 6-MeMP/6-TGN ratio is associated with hematotoxicity in ALL children during maintenance therapy but is not strong enough to predict hematotoxicity.

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confidence: 44%

TPMT Genetic Variability and Its Association with Hematotoxicity in Indonesian Children with Acute Lymphoblastic Leukemia in Maintenance Therapy

Rosdiana

Setiabudy

Andalusia

et al. 2021

PGPM

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Effect of ABCB1 (3435C>T) and CYP3A5 (6986A>G) genes polymorphism on tacrolimus concentrations and dosage requirements in liver transplant patients

Helal

Obada

Elrazek

et al. 2017

Egyptian Journal of Medical Human Genetics

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Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease

et al. 2017

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Inflammation is the driving force in inflammatory bowel disease (IBD) and its link to oxidative stress and carcinogenesis has long been accepted. The antioxidant system of the intestinal mucosa in IBD is compromised resulting in increased oxidative injury. This defective antioxidant system may be the result of genetic variants in antioxidant genes, which can represent susceptibility factors for IBD, namely Crohn’s disease (CD) and ulcerative colitis (UC). Single nucleotide polymorphisms (SNPs) in the antioxidant genes SOD2 (rs4880) and GPX1 (rs1050450) were genotyped in a Portuguese population comprising 436 Crohn’s disease and 367 ulcerative colitis patients, and 434 healthy controls. We found that the AA genotype in GPX1 is associated with ulcerative colitis (OR = 1.93, adjusted P-value = 0.037). Moreover, we found nominal significant associations between SOD2 and Crohn’s disease susceptibility and disease subphenotypes but these did not withstand the correction for multiple testing. These findings indicate a possible link between disease phenotypes and antioxidant genes. These results suggest a potential role for antioxidant genes in IBD pathogenesis and should be considered in future association studies.

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Gene Polymorphisms and Inflammatory Bowel Diseases

Cited by 3 publications

References 175 publications

TPMT Genetic Variability and Its Association with Hematotoxicity in Indonesian Children with Acute Lymphoblastic Leukemia in Maintenance Therapy

TPMT Genetic Variability and Its Association with Hematotoxicity in Indonesian Children with Acute Lymphoblastic Leukemia in Maintenance Therapy

Effect of ABCB1 (3435C>T) and CYP3A5 (6986A>G) genes polymorphism on tacrolimus concentrations and dosage requirements in liver transplant patients

Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease

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