APOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans

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dc.contributor.authorMatsha, Tandi E
dc.contributor.authorPheiffer, Carmen
dc.contributor.authorMasconi, Katya L
dc.contributor.authorYako, Yandiswa Y
dc.contributor.authorErasmus, Rajiv T
dc.date.accessioned2021-10-08T06:20:21Z
dc.date.available2021-10-08T06:20:21Z
dc.date.issued2015
dc.description.abstractBackgroundThe frequencies of apolipoprotein L1 (APOL1) variants and their associations with chronic kidney disease (CKD) vary substantially in populations from Africa. Moreover, available studies have used very small sample sizes to provide reliable estimates of the frequencies of these variants in the general population. We determined the frequency of the two APOL1 risk alleles (G1 and G2) and investigated their association with renal traits in a relatively large sample of mixed-ancestry South Africans. APOL1 risk variants (G1: rs60910145 and rs73885319; G2: rs71785313) were genotyped in 859 African mixed ancestry individuals using allele-specific TaqMan technology. Glomerular filtration rate (eGFR) was estimated using the Modification of Diet in Renal Disease (MDRD) and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations.ResultsThe frequencies of rs73885319, rs60910145 and rs71785313 risk alleles were respectively, 3.6%, 3.4%, and 5.8%, resulting in a 1.01% frequency of the APOL1 two-risk allele (G1:G1 or G1:G2 or G2:G2). The presence of the two-risk allele increased serum creatinine with a corresponding reduction in eGFR (either MDRD or CKD-EPI based). In dominant and log-additive genetic models, significant associations were found between rs71785313 and systolic blood pressure (both p ≤ 0.025), with a significant statistical interaction by diabetes status, p = 0.022, reflecting a negative non-significant effect in nondiabetics and a positive effect in diabetics.ConclusionsAlthough the APOL1 variants are not common in the mixed ancestry population of South Africa, the study does provide an indication that APOL1 variants may play a role in conferring an increased risk for renal and cardiovascular risk in this population.
dc.identifier.apacitationMatsha, T. E., Pheiffer, C., Masconi, K. L., Yako, Y. Y., & Erasmus, R. T. (2015). APOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans. <i>BMC Genetics</i>, 16(1), 174 - 177. http://hdl.handle.net/11427/34260en_ZA
dc.identifier.chicagocitationMatsha, Tandi E, Carmen Pheiffer, Katya L Masconi, Yandiswa Y Yako, and Rajiv T Erasmus "APOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans." <i>BMC Genetics</i> 16, 1. (2015): 174 - 177. http://hdl.handle.net/11427/34260en_ZA
dc.identifier.citationMatsha, T.E., Pheiffer, C., Masconi, K.L., Yako, Y.Y. & Erasmus, R.T. 2015. APOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans. <i>BMC Genetics.</i> 16(1):174 - 177. http://hdl.handle.net/11427/34260en_ZA
dc.identifier.issn1471-2156
dc.identifier.ris TY - Journal Article AU - Matsha, Tandi E AU - Pheiffer, Carmen AU - Masconi, Katya L AU - Yako, Yandiswa Y AU - Erasmus, Rajiv T AB - BackgroundThe frequencies of apolipoprotein L1 (APOL1) variants and their associations with chronic kidney disease (CKD) vary substantially in populations from Africa. Moreover, available studies have used very small sample sizes to provide reliable estimates of the frequencies of these variants in the general population. We determined the frequency of the two APOL1 risk alleles (G1 and G2) and investigated their association with renal traits in a relatively large sample of mixed-ancestry South Africans. APOL1 risk variants (G1: rs60910145 and rs73885319; G2: rs71785313) were genotyped in 859 African mixed ancestry individuals using allele-specific TaqMan technology. Glomerular filtration rate (eGFR) was estimated using the Modification of Diet in Renal Disease (MDRD) and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations.ResultsThe frequencies of rs73885319, rs60910145 and rs71785313 risk alleles were respectively, 3.6%, 3.4%, and 5.8%, resulting in a 1.01% frequency of the APOL1 two-risk allele (G1:G1 or G1:G2 or G2:G2). The presence of the two-risk allele increased serum creatinine with a corresponding reduction in eGFR (either MDRD or CKD-EPI based). In dominant and log-additive genetic models, significant associations were found between rs71785313 and systolic blood pressure (both p ≤ 0.025), with a significant statistical interaction by diabetes status, p = 0.022, reflecting a negative non-significant effect in nondiabetics and a positive effect in diabetics.ConclusionsAlthough the APOL1 variants are not common in the mixed ancestry population of South Africa, the study does provide an indication that APOL1 variants may play a role in conferring an increased risk for renal and cardiovascular risk in this population. DA - 2015 DB - OpenUCT DP - University of Cape Town IS - 1 J1 - BMC Genetics LK - https://open.uct.ac.za PY - 2015 SM - 1471-2156 T1 - APOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans TI - APOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans UR - http://hdl.handle.net/11427/34260 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/34260
dc.identifier.vancouvercitationMatsha TE, Pheiffer C, Masconi KL, Yako YY, Erasmus RT. APOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans. BMC Genetics. 2015;16(1):174 - 177. http://hdl.handle.net/11427/34260.en_ZA
dc.language.isoeng
dc.publisher.departmentDepartment of Medicine
dc.publisher.facultyFaculty of Health Sciences
dc.sourceBMC Genetics
dc.source.journalissue1
dc.source.journalvolume16
dc.source.pagination174 - 177
dc.source.urihttps://dx.doi.org/10.1186/s12863-015-0228-6
dc.subject.otherAdult
dc.subject.otherAfrican Continental Ancestry Group
dc.subject.otherAged
dc.subject.otherAlleles
dc.subject.otherApolipoprotein L1
dc.subject.otherApolipoproteins
dc.subject.otherComorbidity
dc.subject.otherFemale
dc.subject.otherGene Frequency
dc.subject.otherGenetic Predisposition to Disease
dc.subject.otherGenetic Variation
dc.subject.otherGenotype
dc.subject.otherHumans
dc.subject.otherHypertension
dc.subject.otherLipoproteins, HDL
dc.subject.otherMale
dc.subject.otherMiddle Aged
dc.subject.otherPolymorphism, Single Nucleotide
dc.titleAPOL1 genetic variants, chronic kidney diseases and hypertension in mixed ancestry South Africans
dc.typeJournal Article
uct.type.publicationResearch
uct.type.resourceJournal Article
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