Rare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa

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dc.contributor.authorVergotine, Z
dc.contributor.authorKengne, A P
dc.contributor.authorErasmus, R T
dc.contributor.authorYako, Y Y
dc.contributor.authorMatsha, T E
dc.date.accessioned2021-10-08T07:04:20Z
dc.date.available2021-10-08T07:04:20Z
dc.date.issued2014
dc.description.abstractBackground. Genetic variants in the nuclear transcription receptor, PPARG, are associated with cardiometabolic traits, but reports remain conflicting. We determined the frequency and the clinical relevance of PPARG SNPs in an African mixed ancestry population. Methods. In a cross-sectional study, 820 participants were genotyped for rs1800571, rs72551362, rs72551363, rs72551364, and rs3856806, using allele-specific TaqMan technology. The homeostatic model assessment of insulin (HOMA-IR), β-cells function (HOMA-B%), fasting insulin resistance index (FIRI), and the quantitative insulin-sensitivity check index (QUICKI) were calculated. Results. No sequence variants were found except for the rs3856806. The frequency of the PPARG-His447His variant was 23.8% in the overall population group, with no difference by diabetes status (). The His447His allele T was associated with none of the markers of insulin resistance overall and by diabetes status. In models adjusted for 2-hour insulin, the T allele was associated with lower prevalent diabetes risk (odds ratio 0.56 (95% CI 0.31–0.95)). Conclusion. Our study confirms the almost zero occurrences of known rare PPARG SNPs and has shown for the first time in an African population that one of the common SNPs, His447His, may be protective against type 2 diabetes.
dc.identifier.apacitationVergotine, Z., Kengne, A. P., Erasmus, R. T., Yako, Y. Y., & Matsha, T. E. (2014). Rare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa. <i>International Journal of Endocrinology</i>, 2014(4), 174 - 177. http://hdl.handle.net/11427/34483en_ZA
dc.identifier.chicagocitationVergotine, Z, A P Kengne, R T Erasmus, Y Y Yako, and T E Matsha "Rare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa." <i>International Journal of Endocrinology</i> 2014, 4. (2014): 174 - 177. http://hdl.handle.net/11427/34483en_ZA
dc.identifier.citationVergotine, Z., Kengne, A.P., Erasmus, R.T., Yako, Y.Y. & Matsha, T.E. 2014. Rare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa. <i>International Journal of Endocrinology.</i> 2014(4):174 - 177. http://hdl.handle.net/11427/34483en_ZA
dc.identifier.issn1687-8337
dc.identifier.issn1687-8345
dc.identifier.ris TY - Journal Article AU - Vergotine, Z AU - Kengne, A P AU - Erasmus, R T AU - Yako, Y Y AU - Matsha, T E AB - Background. Genetic variants in the nuclear transcription receptor, PPARG, are associated with cardiometabolic traits, but reports remain conflicting. We determined the frequency and the clinical relevance of PPARG SNPs in an African mixed ancestry population. Methods. In a cross-sectional study, 820 participants were genotyped for rs1800571, rs72551362, rs72551363, rs72551364, and rs3856806, using allele-specific TaqMan technology. The homeostatic model assessment of insulin (HOMA-IR), β-cells function (HOMA-B%), fasting insulin resistance index (FIRI), and the quantitative insulin-sensitivity check index (QUICKI) were calculated. Results. No sequence variants were found except for the rs3856806. The frequency of the PPARG-His447His variant was 23.8% in the overall population group, with no difference by diabetes status (). The His447His allele T was associated with none of the markers of insulin resistance overall and by diabetes status. In models adjusted for 2-hour insulin, the T allele was associated with lower prevalent diabetes risk (odds ratio 0.56 (95% CI 0.31–0.95)). Conclusion. Our study confirms the almost zero occurrences of known rare PPARG SNPs and has shown for the first time in an African population that one of the common SNPs, His447His, may be protective against type 2 diabetes. DA - 2014 DB - OpenUCT DP - University of Cape Town IS - 4 J1 - International Journal of Endocrinology LK - https://open.uct.ac.za PY - 2014 SM - 1687-8337 SM - 1687-8345 T1 - Rare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa TI - Rare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa UR - http://hdl.handle.net/11427/34483 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/34483
dc.identifier.vancouvercitationVergotine Z, Kengne AP, Erasmus RT, Yako YY, Matsha TE. Rare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa. International Journal of Endocrinology. 2014;2014(4):174 - 177. http://hdl.handle.net/11427/34483.en_ZA
dc.language.isoeng
dc.publisher.departmentNon-Communicable Diseases Research Unit
dc.publisher.facultyFaculty of Health Sciences
dc.sourceInternational Journal of Endocrinology
dc.source.journalissue4
dc.source.journalvolume2014
dc.source.pagination174 - 177
dc.source.urihttps://dx.doi.org/10.1155/2014/187985
dc.subject.otherRC648-665
dc.subject.otherArticle Subject
dc.subject.otherDiseases of the endocrine glands. Clinical endocrinology
dc.subject.otherResearch Article
dc.titleRare Mutations of Peroxisome Proliferator-Activated Receptor Gamma: Frequencies and Relationship with Insulin Resistance and Diabetes Risk in the Mixed Ancestry Population from South Africa
dc.typeJournal Article
uct.type.publicationResearch
uct.type.resourceJournal Article
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