Literature DB >> 29790428

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.

Raymon Vijzelaar1, Mariana R Botton2,3, Lisette Stolk1, Suparna Martis2, Robert J Desnick2, Stuart A Scott2,3.   

Abstract

AIM: To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies.
METHODS: A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish individuals.
RESULTS: The frequencies of atypical total copy number (i.e., greater or less than two) were 38.7% for Hispanics, 38.9% for Ashkenazi Jewish, 43.2% for Caucasians, 53.6% for Asians and 64.1% for African-Americans. Heterozygous SULT1A1 deletion carriers (slow sulfators) were most common among Caucasians (8.4%), whereas African-Americans had the highest frequencies of three or more copies (rapid sulfators; 60.9%).
CONCLUSION: Different ethnic and racial populations have varying degrees of SULT1A1-mediated sulfation activity, which warrants further research and that may have utility for drug response prediction among SULT1A1-metabolized medications.

Entities:  

Keywords:  SULT1A1; copy number variation; multiplex ligation-dependent probe amplification (MLPA); pharmacogenetics; pharmacogenomics

Mesh:

Substances:

Year:  2018        PMID: 29790428      PMCID: PMC6021911          DOI: 10.2217/pgs-2018-0047

Source DB:  PubMed          Journal:  Pharmacogenomics        ISSN: 1462-2416            Impact factor:   2.533


  36 in total

1.  SULT1A1, CYP2C19 and disease-free survival in early breast cancer patients receiving tamoxifen.

Authors:  Ann M Moyer; Vera J Suman; Richard M Weinshilboum; Rajeswari Avula; John L Black; Stephanie L Safgren; Mary J Kuffel; Matthew M Ames; James N Ingle; Matthew P Goetz
Journal:  Pharmacogenomics       Date:  2011-10-03       Impact factor: 2.533

2.  Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups.

Authors:  Stuart A Scott; Rame Khasawneh; Inga Peter; Ruth Kornreich; Robert J Desnick
Journal:  Pharmacogenomics       Date:  2010-06       Impact factor: 2.533

Review 3.  Sulfotransferase gene copy number variation: pharmacogenetics and function.

Authors:  S J Hebbring; A M Moyer; R M Weinshilboum
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

Review 4.  Structural variation in the human genome and its role in disease.

Authors:  Paweł Stankiewicz; James R Lupski
Journal:  Annu Rev Med       Date:  2010       Impact factor: 13.739

5.  Association between sulfotransferase 1A1 genotype and survival of breast cancer patients receiving tamoxifen therapy.

Authors:  Susan Nowell; Carol Sweeney; Maria Winters; Angie Stone; Nicholas P Lang; Laura F Hutchins; Fred F Kadlubar; Christine B Ambrosone
Journal:  J Natl Cancer Inst       Date:  2002-11-06       Impact factor: 13.506

6.  Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Authors:  Jacob A Tennessen; Abigail W Bigham; Timothy D O'Connor; Wenqing Fu; Eimear E Kenny; Simon Gravel; Sean McGee; Ron Do; Xiaoming Liu; Goo Jun; Hyun Min Kang; Daniel Jordan; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; Goncalo Abecasis; David Altshuler; Deborah A Nickerson; Eric Boerwinkle; Shamil Sunyaev; Carlos D Bustamante; Michael J Bamshad; Joshua M Akey
Journal:  Science       Date:  2012-05-17       Impact factor: 47.728

7.  Association of genetic variation in tamoxifen-metabolizing enzymes with overall survival and recurrence of disease in breast cancer patients.

Authors:  Susan A Nowell; Jiyoung Ahn; James M Rae; Joshua O Scheys; Andrew Trovato; Carol Sweeney; Stewart L MacLeod; Fred F Kadlubar; Christine B Ambrosone
Journal:  Breast Cancer Res Treat       Date:  2005-06       Impact factor: 4.872

8.  Genetic polymorphism for human platelet thermostable phenol sulfotransferase (TS PST) activity.

Authors:  R A Price; R S Spielman; A L Lucena; J A Van Loon; B L Maidak; R M Weinshilboum
Journal:  Genetics       Date:  1989-08       Impact factor: 4.562

9.  Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

Authors:  Stuart A Scott; Lisa Edelmann; Ruth Kornreich; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2008-01-17       Impact factor: 11.025

10.  Copy number variation in sulfotransferase isoform 1A1 (SULT1A1) is significantly associated with enzymatic activity in Japanese subjects.

Authors:  Xinfeng Yu; Takahiro Kubota; Ishwori Dhakal; Setsuo Hasegawa; Suzanne Williams; Shogo Ozawa; Susan Kadlubar
Journal:  Pharmgenomics Pers Med       Date:  2013-03-06
View more
  5 in total

Review 1.  Sulfation pathways from red to green.

Authors:  Süleyman Günal; Rebecca Hardman; Stanislav Kopriva; Jonathan Wolf Mueller
Journal:  J Biol Chem       Date:  2019-07-02       Impact factor: 5.157

2.  Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.

Authors:  Mariana R Botton; Xingwu Lu; Geping Zhao; Elena Repnikova; Yoshinori Seki; Andrea Gaedigk; Eric E Schadt; Lisa Edelmann; Stuart A Scott
Journal:  Hum Mutat       Date:  2019-11       Impact factor: 4.878

3.  Population Pharmacokinetics of Z-Endoxifen in Patients With Advanced Solid Tumors.

Authors:  Emily J Koubek; Andrew T Ralya; Thomas R Larson; Renee M McGovern; Sarah A Buhrow; Joseph M Covey; Alex A Adjei; Naoko Takebe; Matthew M Ames; Matthew P Goetz; Joel M Reid
Journal:  J Clin Pharmacol       Date:  2022-04-19       Impact factor: 2.860

4.  Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans.

Authors:  Nayoung Han; Jung Mi Oh; In-Wha Kim
Journal:  J Pers Med       Date:  2021-01-07

5.  Simple and Robust Detection of CYP2D6 Gene Deletions and Duplications Using CYP2D8P as Reference.

Authors:  Jens Borggaard Larsen; Steffen Jørgensen
Journal:  Pharmaceuticals (Basel)       Date:  2022-01-28
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.