Frequency of the SLCO1B1 388A&gt;G and the 521T&gt;C polymorphism in Tanzania genotyped by a new LightCycler®-based method

Aklillu, Eleni; Mugusi, Sabina; Ngaimisi, Eliford; Hoffmann, Michael M.; König, Sonja K.; Ziesenitz, Victoria C.; Mikus, Gerd; Haefeli, Walter E.; Weiß, Johanna

doi:10.1007/s00228-011-1065-9

Cited by 30 publications

(25 citation statements)

References 37 publications

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“…As we expected, the significantly different allele distribution for c.388A>G and c.521T>C was detected in African (Mwinyi et al, 2008), African American (Tirona et al, 2001), Chinese (Xu et al, 2007), Malaysian, Indian (Jada et al, 2007), Oceanian (Pasanen et al, 2008), Brazilian (Santos et al, 2012) and Tanzanian (Aklillu et al, 2011) population compared to Slovak population. These populations have different origin than Slovak population.…”

Section: Discussionsupporting

confidence: 66%

“…Greek (Giannakopoulou et al, 2014) population. Frequency SNP c.388A>G observed in African (78%) (Mwinyi et al, 2008), Malaysian (87%) (Jada et al, 2007), Tanzanian (87%) (Aklillu et al, 2011), Korean (75%) (Chung et al, 2005) and Chinese (73,4%) (Xu et al, 2007) population was almost twice the frequency determined in our study. Higher incidence of SNP 388A>G was observed also in Japanese (64%) (Nishizato et al, 2003), Indian (57%) (Jada et al, 2007), Algerian (64%), Oceanian (66%) (Pasanen et al, 2008), Finnish (46,2%) (Pasanen et al, 2006b), Pakistani (50%) (Rajput et al, 2014) and Roma (Hungarian) (55%) (Nagy et al, 2015) population.…”

Section: Discussionsupporting

confidence: 52%

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Frequency of Single Nucleotide Polymorphisms of the <i>SLCO1B1</i> Gene in Slavic Population of Central Europe

Mikulová¹,

Kramarova²,

Chandoga³

2016

OnLine Journal of Biological Sciences

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The organic anion transporting polypeptide 1B1 (encoded by SLCO1B1 gene) is involved in the active cellular influx of diverse endogenous compounds and several drugs, such as HMG-CoA reductase inhibitors (statins). Two common polymorphisms c.388A>G and c.521T>C in SLCO1B1 alter transport activity of this transporter and play an important role in the pharmaceutical response to many drugs. The aim of our study was to investigate frequencies of common SNPs in SLCO1B1 gene in Western Slavic population. We determined frequencies of two common polymorphisms c.388A>G and c.521T>C in the SLCO1B1 gene in the control group consisting of 83 healthy volunteers from Slavic population by PCR-RFLP and allele-specific Real-Time PCR. Presented results were statistically evaluated and compared with known data of different ethnic groups. The allelic frequencies of SLCO1B1 SNPs were 37% for minor allele c.388G and 23% for c.521C. SLCO1B1 SNPs c.388A>G and c.521T>C were relatively frequent in Slovak population and allelic frequencies generally correspond with data published for other population of Caucasian origin. We also determined that 19% of individuals with Gilbert syndrome (ATA7/7TAA) carried the genotype c.388GG of the SLCO1B1 gene. According to our findings, analyzed SNPs in the SLCO1B1 gene are frequent enough for consideration of their screening in patients indicated for treatment with drugs involved in OATP1B1 mediated transport. Detection of polymorphisms in SLCO1B1 is beneficial for avoiding adverse drug reaction.

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Section: Discussionsupporting

confidence: 66%

Section: Discussionsupporting

confidence: 52%

Frequency of Single Nucleotide Polymorphisms of the <i>SLCO1B1</i> Gene in Slavic Population of Central Europe

Mikulová¹,

Kramarova²,

Chandoga³

2016

OnLine Journal of Biological Sciences

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“…The PCR profile consisted of an initial step at 50°C for 2 min and 50 cycles with 95°C for 10 min and 92°C for 15 sec. Genotyping for SLCO1B1 c.388A>G (rs2306283) and c.521T>C (rs4149056) in Tanzanian subjects was done using LightCycler® based method [23]. Haplotype analysis was done using Haploview v.4.1 software.…”

Section: Methodsmentioning

confidence: 99%

Importance of Ethnicity, CYP2B6 and ABCB1 Genotype for Efavirenz Pharmacokinetics and Treatment Outcomes: A Parallel-Group Prospective Cohort Study in Two Sub-Saharan Africa Populations

et al. 2013

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ObjectivesWe evaluated the importance of ethnicity and pharmacogenetic variations in determining efavirenz pharmacokinetics, auto-induction and immunological outcomes in two African populations.MethodsART naïve HIV patients from Ethiopia (n = 285) and Tanzania (n = 209) were prospectively enrolled in parallel to start efavirenz based HAART. CD4+ cell counts were determined at baseline, 12, 24 and 48 weeks. Plasma and intracellular efavirenz and 8-hydroxyefvairenz concentrations were determined at week 4 and 16. Genotyping for common functional CYP2B6, CYP3A5, ABCB1, UGT2B7 and SLCO1B1 variant alleles were done.ResultPatient country, CYP2B6*6 and ABCB1 c.4036A>G (rs3842A>G) genotype were significant predictors of plasma and intracellular efavirenz concentration. CYP2B6*6 and ABCB1 c.4036A>G (rs3842) genotype were significantly associated with higher plasma efavirenz concentration and their allele frequencies were significantly higher in Tanzanians than Ethiopians. Tanzanians displayed significantly higher efavirenz plasma concentration at week 4 (p<0.0002) and week 16 (p = 0.006) compared to Ethiopians. Efavirenz plasma concentrations remained significantly higher in Tanzanians even after controlling for the effect of CYP2B6*6 and ABCB1 c.4036A>G genotype. Within country analyses indicated a significant decrease in the mean plasma efavirenz concentration by week 16 compared to week 4 in Tanzanians (p = 0.006), whereas no significant differences in plasma concentration over time was observed in Ethiopians (p = 0.84). Intracellular efavirenz concentration and patient country were significant predictors of CD4 gain during HAART.ConclusionWe report substantial differences in efavirenz pharmacokinetics, extent of auto-induction and immunologic recovery between Ethiopian and Tanzanian HIV patients, partly but not solely, due to pharmacogenetic variations. The observed inter-ethnic variations in efavirenz plasma exposure may possibly result in varying clinical treatment outcome or adverse event profiles between populations.

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“…Genotyping for SNPs were done by real - time PCR using pre-developed Taqman assay reagents for allelic discrimination (Applied Biosystems Genotyping Assays). Genotyping for SLCO1B1 388A > G (rs2306283) and 521 T > C (rs4149056) was done using LightCycler® - based method as described previously [ 32 ]. Haplotype analysis was done using Haploview v.4.1 software.…”

Section: Methodsmentioning

confidence: 99%

Neuropsychiatric manifestations among HIV-1 infected African patients receiving efavirenz-based cART with or without tuberculosis treatment containing rifampicin

Mugusi

Ngaimisi

Janabi

et al. 2018

Eur J Clin Pharmacol

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PurposeEfavirenz-based combination antiretroviral therapy (cART) is associated with neuropsychiatric adverse events. We investigated the time to onset, duration, clinical implications, impact of pharmacogenetic variations, and anti-tuberculosis co-treatment on efavirenz-associated neuropsychiatric manifestations.MethodsProspective cohort study of cART naïve HIV patients with or without tuberculosis (HIV-TB) co-infection treated with efavirenz-based cART. Rifampicin-based anti-tuberculosis therapy was initiated 4 weeks prior to efavirenz-based cART in HIV-TB patients. Data on demographic, clinical, laboratory, and a 29-item questionnaire on neuropsychiatric manifestations were collected for 16 weeks after cART initiation. Genotyping for CYP2B6, CYP3A5, SLCO1B1, and ABCB1 and quantification of efavirenz plasma concentration were done on the 4th and 16th week.ResultsData from 458 patients (243 HIV-only and 215 HIV-TB) were analyzed. Overall incidence of neuropsychiatric manifestations was 57.6% being higher in HIV-only (66.7%) compared to HIV-TB patients (47.4%) (p < 0.01). HIV-only patients were more symptomatic, with proportionately higher grades of manifestations compared to HIV-TB patients. Median time to manifestations was 1 week after cART initiation in HIV-only and 6 weeks after anti-TB (i.e., 2 weeks after cART initiation) in HIV-TB patients. HIV-only patients had significantly higher efavirenz plasma concentrations at 4 weeks after cART compared to HIV-TB patients. No association of sex or genotype was seen in relation to neuropsychiatric manifestations. Risk for neuropsychiatric manifestations was three times more in HIV-only patients compared to HIV-TB (p < 0.01).ConclusionsIncidence of neuropsychiatric manifestations during early initiation of efavirenz-based cART is high in Tanzanian HIV patients. Risk of neuropsychiatric manifestations is lower in HIV patients co-treated with rifampicin containing anti-TB compared to those treated with efavirenz-based cART only.Electronic supplementary materialThe online version of this article (10.1007/s00228-018-2499-0) contains supplementary material, which is available to authorized users.

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Frequency of the SLCO1B1 388A>G and the 521T>C polymorphism in Tanzania genotyped by a new LightCycler®-based method

Cited by 30 publications

References 37 publications

Frequency of Single Nucleotide Polymorphisms of the <i>SLCO1B1</i> Gene in Slavic Population of Central Europe

Frequency of Single Nucleotide Polymorphisms of the <i>SLCO1B1</i> Gene in Slavic Population of Central Europe

Importance of Ethnicity, CYP2B6 and ABCB1 Genotype for Efavirenz Pharmacokinetics and Treatment Outcomes: A Parallel-Group Prospective Cohort Study in Two Sub-Saharan Africa Populations

Neuropsychiatric manifestations among HIV-1 infected African patients receiving efavirenz-based cART with or without tuberculosis treatment containing rifampicin

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