Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians

Show simple item record Khalifa, Mahmoud Noureen, Asma Ertelthalner, Kathrin Bandegi, Ahmad Reza Delport, Rhena Firdaus, Wance J.J. Geethanjali, Finney S. Luthra, Kalpana Makemaharn, Orawan Pang, Richard W.C. Salem, Abdel-Halim Sasaki, Jun Schiefenhoevel, Wulf Lingenhel, Arno Kronenberg, Florian Utermann, Gerd Schmidt, Konrad 2016-06-06T11:08:05Z 2015-10
dc.description.abstract OBJECTIVE : The variant allele of rs3798220 in the apolipoprotein(a) gene (LPA) is used to assess the risk for coronary artery disease (CAD) in Europeans, where it is associated with short alleles of the Kringle IV-2 (KIV-2) copy number variation (CNV) and high lipoprotein(a) (Lp(a)) concentrations. No association of rs3798220 with CAD was detected in a GWAS of East Asians. Our study investigated the association of rs3798220 with Lp(a) concentrations and KIV-2 CNV size in non-European populations to explain the missing association of the variant with CAD in Asians. METHODS : We screened three populations from Africa and seven from Asia by TaqMan Assay for rs3798220 and determined KIV-2 CNV sizes of LPA alleles by pulsed-field gel electrophoresis (PFGE). Additionally, CAD cases from India were analysed. To investigate the phylogenetic origin of rs3798220, 40 LPA alleles from Chinese individuals were separated by PFGE and haplotyped for further SNPs. RESULTS : The variant was not found in Africans. Allele frequencies in East and Southeast Asians ranged from 2.9% to 11.6%, and were very low (0.15%) in CAD cases and controls from India. The variant was neither associated with short KIV-2 CNV alleles nor elevated Lp(a) concentrations in Asians. CONCLUSION : Our study shows that rs3798220 is no marker for short KIV-2 CNV alleles and high Lp(a) in East and Southeast Asians, although the haplotype background is shared with Europeans. It appears unlikely that this SNP confers atherogenic potential on its own. Furthermore, this SNP does not explain Lp(a) attributed risk for CAD in Asian Indians. en_ZA
dc.description.department Chemical Pathology en_ZA
dc.description.embargo 2016-10-31
dc.description.librarian hb2016 en_ZA
dc.description.uri en_ZA
dc.identifier.citation Khalifa, M, Noureen, A, Ertelthalner, K, Bandegi, AR, Delport, R, Firdaus, WJJ, Geethanjali, FS, Luthra, K, Makemaharn, O, Pang, RWC, Salem, A-H, Sasaki, J, Schiefenhoevel, W, Lingenhel, A, Kronenberg, F, Utermann, G, & Schmidt, K 2016, 'Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians', Atherosclerosis, vol. 242, no. 2, pp. 521-528. en_ZA
dc.identifier.issn 0021-9150 (print
dc.identifier.issn 1879-1484 (online)
dc.identifier.other 10.1016/j.atherosclerosis.2015.07.015
dc.language.iso en en_ZA
dc.publisher Elsevier en_ZA
dc.rights © 2015 Elsevier Ireland Ltd. All rights reserved. Notice : this is the author’s version of a work that was accepted for publication in Atherosclerosis. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to This article since it was submitted for publication. A definitive version was subsequently published in Atherosclerosis, vol. 242, no. 2, pp. 521-528, 2016. doi : 10.1016/j.atherosclerosis.2015.07.015. en_ZA
dc.subject Genetic variation en_ZA
dc.subject Population genetics en_ZA
dc.subject Coronary artery disease (CAD) en_ZA
dc.subject Apolipoprotein(a) gene (LPA) en_ZA
dc.subject Copy number variation (CNV) en_ZA
dc.subject Lipoprotein(a) (Lp(a)) en_ZA
dc.subject Kringle IV-2 (KIV-2) en_ZA
dc.title Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians en_ZA
dc.type Postprint Article en_ZA

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