Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population

Nakanishi T, Tamai I. Solute carrier transporters as targets for drug delivery and pharmacological intervention for chemotherapy. J Pharm Sci. 2011;100(9):3731–50.

Article  CAS  PubMed  Google Scholar 

Tamai I, Tsuji A. Transporter-mediated permeation of drugs across the blood-brain barrier. J Pharm Sci. 2000;89(11):1371–88.

Article  CAS  PubMed  Google Scholar 

Maeda K. Organic anion transporting polypeptide (OATP)1B1 and OATP1B3 as important regulators of the pharmacokinetics of substrate drugs. Biol Pharm Bull. 2015;38(2):155–68.

Article  CAS  PubMed  Google Scholar 

Alam K, Crowe A, Wang X, Zhang P, Ding K, Li L, Yue W. Regulation of Organic Anion transporting polypeptides (OATP) 1B1- and OATP1B3-Mediated transport: an updated review in the context of OATP-Mediated drug-drug interactions. Int J Mol Sci 2018, 19(3).

Wilke RA, Lin DW, Roden DM, Watkins PB, Flockhart D, Zineh I, Giacomini KM, Krauss RM. Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges. Nat Rev Drug Discov. 2007;6(11):904–16.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Group SSC, Bowman L, Armitage J, Bulbulia R, Parish S, Collins R. Study of the effectiveness of additional reductions in cholesterol and homocysteine (SEARCH): characteristics of a randomized trial among 12064 myocardial infarction survivors. Am Heart J. 2007;154(5):815–23. 823 e811-816.

Article  Google Scholar 

Chan JCM, Ng MH, Wong RSM, Tomlinson B. A case of simvastatin-induced myopathy with SLCO1B1 genetic predisposition and co-ingestion of linagliptin and Stevia rebaudiana. J Clin Pharm Ther. 2019;44(3):381–3.

Article  PubMed  Google Scholar 

Matsuzawa Y, Kita T, Mabuchi H, Matsuzaki M, Nakaya N, Oikawa S, Saito Y, Sasaki J, Shimamoto K, Itakura H, et al. Sustained reduction of serum cholesterol in low-dose 6-year simvastatin treatment with minimum side effects in 51,321 Japanese hypercholesterolemic patients. Circ J. 2003;67(4):287–94.

Article  CAS  PubMed  Google Scholar 

Davila-Fajardo CL, Diaz-Villamarin X, Antunez-Rodriguez A, Fernandez-Gomez AE, Garcia-Navas P, Martinez-Gonzalez LJ, Davila-Fajardo JA, Barrera JC. Pharmacogenetics in the treatment of Cardiovascular diseases and its current progress regarding implementation in the clinical routine. Genes (Basel) 2019, 10(4).

Ramsey LB, Johnson SG, Caudle KE, Haidar CE, Voora D, Wilke RA, Maxwell WD, McLeod HL, Krauss RM, Roden DM, et al. The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clin Pharmacol Ther. 2014;96(4):423–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim SR, Saito Y, Sai K, Kurose K, Maekawa K, Kaniwa N, Ozawa S, Kamatani N, Shirao K, Yamamoto N, et al. Genetic variations and frequencies of major haplotypes in SLCO1B1 encoding the transporter OATP1B1 in Japanese subjects: SLCO1B1*17 is more prevalent than *15. Drug Metab Pharmacokinet. 2007;22(6):456–61.

Article  PubMed  Google Scholar 

Na Nakorn C, Waisayarat J, Dejthevaporn C, Srisawasdi P, Wongwaisayawan S, Sukasem C. Genetic variations and frequencies of the two functional single nucleotide polymorphisms of SLCO1B1 in the Thai Population. Front Pharmacol. 2020;11:728.

Article  PubMed  PubMed Central  Google Scholar 

Aklillu E, Habtewold A, Ngaimisi E, Yimer G, Mugusi S, Amogne W, Reuter T, Meid A, Hoffmann MM, Weiss J. SLCO1B1 gene variations among tanzanians, ethiopians, and europeans: relevance for African and Worldwide Precision Medicine. OMICS. 2016;20(9):538–45.

Article  CAS  PubMed  Google Scholar 

Niemi M, Pasanen MK, Neuvonen PJ. Organic anion transporting polypeptide 1B1: a genetically polymorphic transporter of major importance for hepatic drug uptake. Pharmacol Rev. 2011;63(1):157–81.

Article  CAS  PubMed  Google Scholar 

Ho RH, Tirona RG, Leake BF, Glaeser H, Lee W, Lemke CJ, Wang Y, Kim RB. Drug and bile acid transporters in rosuvastatin hepatic uptake: function, expression, and pharmacogenetics. Gastroenterology. 2006;130(6):1793–806.

Article  CAS  PubMed  Google Scholar 

Group SC, Link E, Parish S, Armitage J, Bowman L, Heath S, Matsuda F, Gut I, Lathrop M, Collins R. SLCO1B1 variants and statin-induced myopathy–a genomewide study. N Engl J Med. 2008;359(8):789–99.

Article  Google Scholar 

Heart Protection Study, Collaborative G. Effects on 11-year mortality and morbidity of lowering LDL cholesterol with simvastatin for about 5 years in 20,536 high-risk individuals: a randomised controlled trial. Lancet. 2011;378(9808):2013–20.

Article  Google Scholar 

Wilke RA, Ramsey LB, Johnson SG, Maxwell WD, McLeod HL, Voora D, Krauss RM, Roden DM, Feng Q, Cooper-Dehoff RM, et al. The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy. Clin Pharmacol Ther. 2012;92(1):112–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cooper-DeHoff RM, Niemi M, Ramsey LB, Luzum JA, Tarkiainen EK, Straka RJ, Gong L, Tuteja S, Wilke RA, Wadelius M et al. The clinical pharmacogenetics implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and statin-Associated Musculoskeletal symptoms. Clin Pharmacol Ther 2022.

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ramsey LB, Bruun GH, Yang W, Trevino LR, Vattathil S, Scheet P, Cheng C, Rosner GL, Giacomini KM, Fan Y, et al. Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. Genome Res. 2012;22(1):1–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jithesh PV, Abuhaliqa M, Syed N, Ahmed I, El Anbari M, Bastaki K, Sherif S, Umlai UK, Jan Z, Gandhi G, et al. A population study of clinically actionable genetic variation affecting drug response from the Middle East. NPJ Genom Med. 2022;7(1):10.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yu MHC, Chan MCY, Chung CCY, Li AWT, Yip CYW, Mak CCY, Chau JFT, Lee M, Fung JLF, Tsang MHY, et al. Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population. PLoS Genet. 2021;17(2):e1009323.

Article  PubMed  PubMed Central  Google Scholar 

Ingelman-Sundberg M, Mkrtchian S, Zhou Y, Lauschke VM. Integrating rare genetic variants into pharmacogenetic drug response predictions. Hum Genomics. 2018;12(1):26.

Article  PubMed  PubMed Central  Google Scholar 

Saudi Mendeliome G. Comprehensive gene panels provide advantages over clinical exome sequencing for mendelian diseases. Genome Biol. 2015;16:134.

Article  Google Scholar 

Abouelhoda M, Sobahy T, El-Kalioby M, Patel N, Shamseldin H, Monies D, Al-Tassan N, Ramzan K, Imtiaz F, Shaheen R, et al. Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Genet Med. 2016;18(12):1244–9.

Article  CAS  PubMed  Google Scholar 

Browning BL, Zhou Y, Browning SR. A one-penny Imputed Genome from Next-Generation reference panels. Am J Hum Genet. 2018;103(3):338–48.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Browning SR, Browning BL. Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet. 2007;81(5):1084–97.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Howe KL, Achuthan P, Allen J, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Azov AG, Bennett R, Bhai J, et al. Ensembl 2021. Nucleic Acids Res. 2021;49(D1):D884–91.

Article  CAS  PubMed  Google Scholar 

Zhou Y, Mkrtchian S, Kumondai M, Hiratsuka M, Lauschke VM. An optimized prediction framework to assess the functional impact of pharmacogenetic variants. Pharmacogenomics J. 2019;19(2):115–26.

Article  CAS  PubMed  Google Scholar 

留言 (0)

沒有登入
gif