Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever

Rüstemoğlu, Aydın; Gümüş-Akay, Güvem; Yığıt, Serbülent; Taşlıyurt, Türker

doi:10.4238/2011.december.14.7

Cited by 15 publications

(10 citation statements)

References 37 publications

(44 reference statements)

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“…A putative explanation of the case reported could be the fact that other unknown modifier genes or epigenetic factors are involved in the pathogenesis of FMF resulting in the heterogeneity of the clinical phenotype among these patients. Several studies have implicated different genes (Rüstemoglu et al, 2011) but large longitudinal studies are required in order to clarify this topic.…”

Section: Discussionmentioning

confidence: 99%

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

et al. 2014

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Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely in patients heterozygous for FMF mutations. These patients may present with acute or chronic hepatitis, with or without liver failure. Non-alcoholic hepatitis, mild hyperbilirubinemia, and elevation of liver enzymes of unknown etiology should also raise suspicion of FMF. Patients with FMF and liver involvement usually respond to colchicine medication. The mutation I259V (c.775A MEFV gene has not been reported in FMF patients with liver involvement. Furthermore, among several MEFV gene variants, it has been reported so far in only one heterozygous FMF patient of Turkish ancestry presenting with abdominal pain without any hepatic complication. Herein, the second case of a FMF patient heterozygous for the above mentioned mutation is discussed. It is a male child with FMF clinical phenotype which presented two consecutively episodes of acute hepatitis during fever attacks, that spontaneously resolved. Therapeutic trial with colchicine was successful, since no other fever attacks and acute hepatitis episodes were noticed.

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Section: Discussionmentioning

confidence: 99%

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

et al. 2014

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“…Gréen et al (2006) reported that the response of patients with ovarian cancer to paclitaxel is significantly associated with G2677T polymorphism (Gréen et al, 2006). Rustemoglu et al (2011) reported that the CT genotype for C3435T polymorphism and some genotypes and haplotypes for the C1236T-C3435T combination have been associated with Familial Mediterranean Fever (FMF) in the Turkish population (Rustemoglu et al, 2011).…”

Section: Introductionmentioning

confidence: 98%

MDR1 gene polymorphisms may be associated with Behçet's disease and its colchicum treatment response

Rüstemoğlu

Gül

Gümüş-Akay

et al. 2012

Gene

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“…In our investigation, the prevalence of MDR1 genotypes did not signi cantly vary between people of various stages of HIV and healthy. MDR1 1236CT, 1236TT, and 3435CT genotypes were correlated with the HIV disease progression, however, these polymorphisms did not regulate the susceptibility of HIV-1 [40].…”

Section: Discussionmentioning

confidence: 79%

Analysis of MDR1 Polymorphisms Among HIV-Infected Individuals on ARV Therapy from Western India

Singh

Samani

Chauware

et al. 2020

Preprint

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Background: MDR1 is involved in the transport of numerous drugs. Polymorphism of MDR1 is linked with the treatment outcome. ARV regimen is being used to manage the progression of HIV infection. Ethnic disparities have been observed in the distribution of MDR1 genotypes. Methods: MDR1 polymorphism (1236 C/T, 3435 C/T) was genotyped in 34 individuals with ARV-associated hepatotoxicity, 131 HIV-infected, and one-fifty-five healthy by utilization of PCR-RFLP. Results: Haplotype TC exposed the greater risk for hepatotoxicity severity when compared between individuals with hepatotoxicity and HIV infected (OR=1.96, P=0.06). While haplotypes TT and CC bared a reduce risk for hepatotoxicity severity (OR= 0.16, P=0.006; OR= 0.46, P=0.06). Haplotype TT and CC displayed a decrease risk of hepatotoxicity severity while compared between individuals with hepatotoxicity and healthy (OR=0.09, P=0.003; OR=0.34, P=0.03). A higher occurrence of MDR1 1236TT genotype was seen among patients with hepatotoxicity who consumed alcohol (28.6% versus 14.8%, OR=1.50). In patients with hepatotoxicity taking nevirapine, there was an increased incidence of MDR1 1236TT genotype in contrast with efavirenz (21.7% versus 9.1%, OR=2.11). In HIV-infected people taking nevirapine, MDR1 1236CT, 1236TT genotypes found to be increased compared with efavirenz (43.7% versus 33.3%, OR=1.66; 12.6% versus 8.3%, OR=1.96). A higher occurrence of MDR1 1236TT genotype has happened in hepatotoxicity cases having both alcohol and nevirapine (40.0% versus 16.67%, OR=2.21). Conclusion: MDR1 haplotypes may have an influence on the severity of hepatotoxicity. Individual utilizing nevirapine and alcohol with MDR1 1236TT and 3435CT genotypes may have combined effect on vulnerability of severity of hepatotoxicity and progression of HIV infection

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Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever

Cited by 15 publications

References 37 publications

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

MDR1 gene polymorphisms may be associated with Behçet's disease and its colchicum treatment response

Analysis of MDR1 Polymorphisms Among HIV-Infected Individuals on ARV Therapy from Western India

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