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

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.http://www.elsevier.com/locate/atherosclerosis2016-10-31hb2016Chemical Patholog

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Additional file 5: of High-efficiency derivation of human embryonic stem cell lines using a culture system with minimized trophoblast cell proliferation

Figure S4. Karyotyping analysis of Si1, Si2, Si3, Si4, and Si5 cell lines exhibited a normal diploid karyotype. (JPG 720 kb

Additional file 3: of High-efficiency derivation of human embryonic stem cell lines using a culture system with minimized trophoblast cell proliferation

Figure S2. Derivation of hESCs from diseased and frozen–thawed embryos using MTP. (A) ICM clump isolated from a frozen–thawed aneuploid 3PN embryo and cultured on Matrigel-coated plate. After culture for 3 days, most TE cells degenerated (arrowhead) while remaining ICM cells were transferred onto fresh HFFs and expanded further to generate hESCs (Si3PN). (B) ICM clump isolated from Hb Bart’s hydrops fetalis embryos and cultured on Matrigel-coated plate. Degenerating TE cells (arrowhead) observed while remaining ICM cells were transferred onto fresh HFFs and expanded further to generate hESCs (SiAtha1). (C) Karyotyping results show Si3PN exhibited a triploid (69, XXY) karyotype while (D) SiAtha1 exhibited a normal diploid karyotype (46, XY). Scale bar: 50 μm. (JPG 1215 kb

Additional file 6: of High-efficiency derivation of human embryonic stem cell lines using a culture system with minimized trophoblast cell proliferation

Figure S5. Schematic diagram explaining origin of aneuploid chromosome caused by meiotic and mitotic nondisjunction. For meiotic nondisjunction, chromosomal missegregation occurs during meiosis resulting in aneuploid embryos. For mitotic nondisjunction, chromosome missegregation occurs during mitotic cell divisions resulting in mosaicism of normal diploid and aneuploid cells in embryo. For Si3PN, aneuploid chromosome was originated from meiotic nondisjunction, while aneuploid chromosomes of Si1–Si4 likely occurred from mitotic no-disjunction during second or third cell division of the embryos. (JPG 1491 kb

Additional file 1: of High-efficiency derivation of human embryonic stem cell lines using a culture system with minimized trophoblast cell proliferation

Supplement information including supplementary Tables S1–S3. (DOCX 39 kb