ABCB1 single nucleotide polymorphisms in the Brazilian population

Scheiner, Marcos Antônio Maurício; Damasceno, Arthur Motta; Maia, Raquel Ciuvalschi

doi:10.1007/s11033-009-9547-x

Cited by 14 publications

(13 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In a recent study that was also performed in Rio de Janeiro, Brazil, matching the recruitment area and ethnicity of our IBD patients, 278 healthy individuals were analyzed regarding the genotype and allele frequencies of MDR1 gene polymorphisms. The investigators found a peculiar variant distribution, with significant differences between C1236C and C3435T and also between C1236C and C3435C, which differed from the results obtained for several other ethnic groups (34). In this context, it must be emphasized that data from potential source populations, such as Europeans or Africans, cannot be deemed representative of the Brazilian genotype and allele frequencies due to the marked heterogeneity and the extensive admixture of the Brazilian population (35,36).…”

Section: Discussioncontrasting

confidence: 70%

Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

Carvalho¹,

Fróes²,

Esberard³

et al. 2014

Clinics

View full text Add to dashboard Cite

OBJECTIVES:Conflicting data from studies on the potential role of multidrug resistance 1 gene polymorphisms in inflammatory bowel disease may result from the analysis of genetically and geographically distinct populations. Here, we investigated whether multidrug resistance 1 gene polymorphisms are associated with inflammatory bowel diseases in patients from Rio de Janeiro.METHODS:We analyzed 123 Crohn's disease patients and 83 ulcerative colitis patients to determine the presence of the multidrug resistance 1 gene polymorphisms C1236T, G2677T and C3435T. In particular, the genotype frequencies of Crohn's disease and ulcerative colitis patients were analyzed. Genotype-phenotype associations with major clinical characteristics were established, and estimated risks were calculated for the mutations.RESULTS:No significant difference was observed in the genotype frequencies of the multidrug resistance 1 G2677T/A and C3435T polymorphisms between Crohn's disease and ulcerative colitis patients. In contrast, the C1236T polymorphism was significantly more common in Crohn's disease than in ulcerative colitis (p = 0.047). A significant association was also found between the multidrug resistance 1 C3435T polymorphism and the stricturing form of Crohn's disease (OR: 4.13; p = 0.009), whereas no association was found with penetrating behavior (OR: 0.33; p = 0.094). In Crohn's disease, a positive association was also found between the C3435T polymorphism and corticosteroid resistance/refractoriness (OR: 4.14; p = 0.010). However, no significant association was found between multidrug resistance 1 gene polymorphisms and UC subphenotypic categories.CONCLUSION:The multidrug resistance 1 gene polymorphism C3435T is associated with the stricturing phenotype and an inappropriate response to therapy in Crohn's disease. This association with Crohn's disease may support additional pathogenic roles for the multidrug resistance 1 gene in regulating gut-microbiota interactions and in mediating fibrosis. Understanding the effects of several drugs associated with multidrug resistance 1 gene variants may aid in the selection of customized therapeutic regimens.

show abstract

Section: Discussioncontrasting

confidence: 70%

Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

Carvalho¹,

Fróes²,

Esberard³

et al. 2014

Clinics

View full text Add to dashboard Cite

show abstract

“…[109] The frequencies of the ABCB1 3435C and the 1236C alleles are also much higher in individuals of African descent than in populations of other ethnicity. [111] Recently, a novel CYP3A4 loss-of-function allele (CYP3A4*20) was identified and was shown to be present in 1.2% of the Spanish population. This polymorphism has, however, not been investigated in relation to Tac dose requirement nor toxicity.…”

Section: Ethnic Considerationsmentioning

confidence: 99%

Pharmacogenetic aspects of the use of tacrolimus in renal transplantation: recent developments and ethnic considerations

Tang

Andrews

Gelder

et al. 2016

Expert Opinion on Drug Metabolism & Toxicology

113

111

View full text Add to dashboard Cite

Introduction: Tacrolimus (Tac) is effective in preventing acute rejection but has considerable toxicity and inter-individual variability in pharmacokinetics and pharmacodynamics. Part of this is explained by polymorphisms in genes encoding Tac-metabolizing enzymes and transporters. A better understanding of Tac pharmacokinetics and pharmacodynamics may help to minimize different outcomes amongst transplant recipients by personalizing immunosuppression. Areas covered: The pharmacogenetic contribution of Tac metabolism will be examined, with a focus on recent discoveries, new developments and ethnic considerations. Expert opinion: The strongest and most consistent association in pharmacogenetics is between the CYP3A5 genotype and Tac dose requirement, with CYP3A5 expressers having a~40-50% higher dose requirement compared to non-expressers. Two recent randomized-controlled clinical trials using CYP3A5 genotype, however, did not show a decrease in acute rejections nor reduced toxicity. CYP3A4*22, CYP3A4*26, and POR*28 are also associated with Tac dose requirements and may be included to provide the expected improvement of Tac therapy. Studies focusing on the intracellular drug concentrations and on calcineurin inhibitor-induced nephrotoxicity also seem promising. For all studies, however, the ethnic prevalence of genotypes should be taken into account, as this may significantly impact the effect of pre-emptive genotyping.ARTICLE HISTORY

show abstract

“…Regarding the ABCB1 c.C3435T, none of the alleles is significantly overrepresented in our population as compared to controls [29,43,[59][60][61][62][63][64][65]. Some studies yet reported a relationship between this polymorphism and obesity or weight gain.…”

Section: Discussionmentioning

confidence: 62%

“…We searched for recent studies focusing on the allelic frequency of OPRM1 c.A118G, ABCB1 c.C3435T, and COMT p.Val158Met in control Caucasian population [7,40,43]. We screened Caucasian populations and selected in the corresponding articles the data necessary to compare allelic frequencies between control Caucasian populations and our morbidly obese Caucasian population.…”

Section: Control Populationsmentioning

confidence: 99%

Pilot Study Examining the Frequency of Several Gene Polymorphisms Involved in Morphine Pharmacodynamics and Pharmacokinetics in a Morbidly Obese Population

et al. 2010

View full text Add to dashboard Cite

Morbidly obese patients are at significantly elevated risk of postsurgery complications and merit closer monitoring by health care professionals after bariatric surgery. It is now recognized that genetic factors influence individual patient's response to drug used in anesthesia and analgesia. Among the many drug administered by anesthetists, we focused in this pilot study on morphine, since morphine patient-controlled anesthesia in obese patients undergoing gastric bypass surgery is frequently prescribed. We examined the allelic frequency of three polymorphisms involved in morphine pharmacodynamics and pharmacokinetics in patients with body mass index (BMI) >40. One hundred and nine morbidly obese patients (BMI = 49.1 ± 7.7 kg/m²) were genotyped for three polymorphisms c.A118G of mu opioid receptor (OPRM1), c.C3435T of the P-glycoprotein gene (ABCB1), and p.Val158Met of catechol-O-methyltransferase gene (COMT). Allelic frequencies were 118G-0.22, C3435-0.55, and 158Met-0.5 in our whole population and 0.23, 0.5, and 0.47 in Caucasian population. Allelic frequencies did not differ according to gender. Mean BMI did no differ according to the allelic variant. OPRM1118G allele was more frequent in our population than in most previously described European populations. Since the concept of "personalized medicine" promises to individualize therapeutics and optimize medical treatment in term of efficacy and safety, especially when prescribing drugs with a narrow therapeutic index such as morphine, further clinical studies examining the clinical consequences of the OPRM1 c.A118G polymorphism in patients undergoing gastric bypass surgery are needed.

show abstract

ABCB1 single nucleotide polymorphisms in the Brazilian population

Cited by 14 publications

References 34 publications

Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

Pharmacogenetic aspects of the use of tacrolimus in renal transplantation: recent developments and ethnic considerations

Pilot Study Examining the Frequency of Several Gene Polymorphisms Involved in Morphine Pharmacodynamics and Pharmacokinetics in a Morbidly Obese Population

Contact Info

Product

Resources

About