Novel CYP2E1 haplotype identified in a South African cohort

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dc.contributor.authorHeathfield, Laura J
dc.contributor.authorDalvie, Shareefa
dc.contributor.authorKalideen, Kusha
dc.contributor.authorDandara, Collet
dc.date.accessioned2021-10-08T07:16:09Z
dc.date.available2021-10-08T07:16:09Z
dc.date.issued2014
dc.description.abstractAlcohol abuse accounts for approximately 2.5 million deaths annually and is the third highest risk factor for disease and disability. Alcohol is metabolised by polymorphic enzymes and the status of an individual with respect to alcohol metabolising enzymes may have forensic relevance in post-mortems. Baseline frequencies of gene variants involved in alcohol metabolism need to be established to aid the identification of suitable population-specific polymorphisms to genotype during molecular autopsies. The principal alcohol metabolising enzymes include alcohol dehydrogenase (ADH), aldehyde dehydrogenase (ALDH) and cytochrome P450 2E1 (CYP2E1). Six single nucleotide polymorphisms (SNPs) - rs1229984G>A and rs2066702C>Tin ADH1B, rs671G>A in ALDH2, and rs3813867G>C, rs2031920C>T and rs6413432T>A in CYP2E1 - were genotyped in 150 individuals from four South African populations: Xhosa, Zulu, South African white and South African coloured. Allele frequencies for each SNP in the four population groups were 0-10% for rs1229984A, 2-12% for rs2066702T, 0-2% for rs671A, 1-4% for rs3813867C, 0-1% for rs2031920T and 3-15% for rs6413432A. Haplotype analysis revealed a novel combination of three SNPs in CYP2E1 whose effects on alcohol metabolism need further investigation. Establishment of baseline frequencies adds to our knowledge of genetic variation in alcohol metabolising enzymes and additional research is required to determine the functional significance of this novel CYP2E1 haplotype.
dc.identifier.apacitationHeathfield, L. J., Dalvie, S., Kalideen, K., & Dandara, C. (2014). Novel CYP2E1 haplotype identified in a South African cohort. <i>South African Journal of Science</i>, 110(43353), 1 - 5. http://hdl.handle.net/11427/34780en_ZA
dc.identifier.chicagocitationHeathfield, Laura J, Shareefa Dalvie, Kusha Kalideen, and Collet Dandara "Novel CYP2E1 haplotype identified in a South African cohort." <i>South African Journal of Science</i> 110, 43353. (2014): 1 - 5. http://hdl.handle.net/11427/34780en_ZA
dc.identifier.citationHeathfield, L.J., Dalvie, S., Kalideen, K. & Dandara, C. 2014. Novel CYP2E1 haplotype identified in a South African cohort. <i>South African Journal of Science.</i> 110(43353):1 - 5. http://hdl.handle.net/11427/34780en_ZA
dc.identifier.issn0038-2353
dc.identifier.issn1996-7489
dc.identifier.ris TY - Journal Article AU - Heathfield, Laura J AU - Dalvie, Shareefa AU - Kalideen, Kusha AU - Dandara, Collet AB - Alcohol abuse accounts for approximately 2.5 million deaths annually and is the third highest risk factor for disease and disability. Alcohol is metabolised by polymorphic enzymes and the status of an individual with respect to alcohol metabolising enzymes may have forensic relevance in post-mortems. Baseline frequencies of gene variants involved in alcohol metabolism need to be established to aid the identification of suitable population-specific polymorphisms to genotype during molecular autopsies. The principal alcohol metabolising enzymes include alcohol dehydrogenase (ADH), aldehyde dehydrogenase (ALDH) and cytochrome P450 2E1 (CYP2E1). Six single nucleotide polymorphisms (SNPs) - rs1229984G>A and rs2066702C>Tin ADH1B, rs671G>A in ALDH2, and rs3813867G>C, rs2031920C>T and rs6413432T>A in CYP2E1 - were genotyped in 150 individuals from four South African populations: Xhosa, Zulu, South African white and South African coloured. Allele frequencies for each SNP in the four population groups were 0-10% for rs1229984A, 2-12% for rs2066702T, 0-2% for rs671A, 1-4% for rs3813867C, 0-1% for rs2031920T and 3-15% for rs6413432A. Haplotype analysis revealed a novel combination of three SNPs in CYP2E1 whose effects on alcohol metabolism need further investigation. Establishment of baseline frequencies adds to our knowledge of genetic variation in alcohol metabolising enzymes and additional research is required to determine the functional significance of this novel CYP2E1 haplotype. DA - 2014 DB - OpenUCT DP - University of Cape Town IS - 43353 J1 - South African Journal of Science LK - https://open.uct.ac.za PY - 2014 SM - 0038-2353 SM - 1996-7489 T1 - Novel CYP2E1 haplotype identified in a South African cohort TI - Novel CYP2E1 haplotype identified in a South African cohort UR - http://hdl.handle.net/11427/34780 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/34780
dc.identifier.vancouvercitationHeathfield LJ, Dalvie S, Kalideen K, Dandara C. Novel CYP2E1 haplotype identified in a South African cohort. South African Journal of Science. 2014;110(43353):1 - 5. http://hdl.handle.net/11427/34780.en_ZA
dc.language.isoeng
dc.publisher.departmentInstitute of Infectious Disease and Molecular Medicine
dc.publisher.facultyFaculty of Health Sciences
dc.sourceSouth African Journal of Science
dc.source.journalissue43353
dc.source.journalvolume110
dc.source.pagination1 - 5
dc.source.urihttps://dx.doi.org/10.1590/sajs.2014/20130324
dc.subject.otherhaplotype
dc.subject.otheralcohol metabolism
dc.subject.othermolecular autopsy
dc.subject.otherCYP2E1
dc.subject.otherSouth Africa
dc.titleNovel CYP2E1 haplotype identified in a South African cohort
dc.typeJournal Article
uct.type.publicationResearch
uct.type.resourceJournal Article
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