Analysis of the apo(a) size polymorphism in Asian Indian populations: association with Lp(a) concentration and coronary heart disease

Geethanjali, Finney S.; Luthra, Kalpana; Lingenhel, Arno; Kanagasabapathy, A. S.; Jacob, Joseph; Srivastava, Lalit M.; Vasisht, Suman; Kraft, H. G.; Utermann, Gerd

doi:10.1016/s0021-9150(03)00143-6

Cited by 56 publications

(49 citation statements)

References 30 publications

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“…However, with its very low allele frequency in the Asian Indians, rs3798220 C clearly does not contribute to the higher Lp(a) levels observed in the CAD cases of this study [31]. In two…”

Section: Discussionmentioning

confidence: 50%

“…Its population frequency is by nearly an order of magnitude lower in these South Asians than in Europeans, and the frequencies were not different between CAD cases and controls of our study. In a previous study based on the same samples, it was shown for both North and South Indians that over the whole range of KIV CNV sizes Lp(a) concentrations were higher in CAD cases than in the respective controls [31]. Other studies also identified high Lp(a) to be associated with CAD risk in Asian Indians [42,[45][46][47].…”

Section: Discussionmentioning

confidence: 97%

“…Samples came from seven Asian and three African populations, which were all sampled for previous LPA studies [16,[30][31][32]. The African samples consisted of Khoi San of Angolan descent (n=263), sampled in Schmidtsdrift, Republic of South Africa, Gabonese Bantu from the district of Moyen-Ogooué (n=113), Gabon; and Egyptians from Ismailia (n=132), Egypt.…”

Section: Subjectsmentioning

confidence: 99%

“…For these samples, the association of Lp(a) plasma concentration and the KIV-2 CNV size with CAD had been investigated previously, with the other Indians included in our study serving as controls [31].…”

Section: Subjectsmentioning

confidence: 99%

“…This assay is highly accurate and has been used in several previous population studies [9,16,[30][31][32]. For the Trobriand Islanders, only DNA samples were available.…”

Section: Lp(a) Concentrationsmentioning

confidence: 99%

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

et al. 2015

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“…However, with its very low allele frequency in the Asian Indians, rs3798220 C clearly does not contribute to the higher Lp(a) levels observed in the CAD cases of this study [31]. In two…”

Section: Discussionmentioning

confidence: 50%

Section: Discussionmentioning

confidence: 97%

Section: Subjectsmentioning

confidence: 99%

Section: Subjectsmentioning

confidence: 99%

“…This assay is highly accurate and has been used in several previous population studies [9,16,[30][31][32]. For the Trobriand Islanders, only DNA samples were available.…”

Section: Lp(a) Concentrationsmentioning

confidence: 99%

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

et al. 2015

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Genetically Elevated Lipoprotein(a) and Increased Risk of Myocardial Infarction

Kamstrup¹

2009

JAMA

1,060

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High levels of lipoprotein(a) are associated with increased risk of myocardial infarction (MI). OBJECTIVE: To assess whether genetic data are consistent with this association being causal. DESIGN, SETTING, AND PARTICIPANTS: Three studies of white individuals from Copenhagen, Denmark, were used: the Copenhagen City Heart Study (CCHS), a prospective general population study with 16 years of follow-up (1991-2007, n = 8637, 599 MI events); the Copenhagen General Population Study (CGPS), a cross-sectional general population study (2003( -2006; and the Copenhagen Ischemic Heart Disease Study (CIHDS), a case-control study (1991( -2004( , n = 2461( , 1231. MAIN OUTCOME MEASURES:Plasma lipoprotein(a) levels, lipoprotein(a) kringle IV type 2 (KIV-2) size polymorphism genotype, and MIs recorded from 1976 through July 2007 for all participants.

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A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a)

et al. 2004

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LPA, the gene coding for apolipoprotein(a) [apo(a)], is the major determinant of lipoprotein(a) [Lp(a)] plasma levels, which are associated with risk for coronary heart disease (CHD) and stroke. It is not completely understood how variation in LPA relates to Lp(a) concentrations. One type of variation related to Lp(a) levels is the number of Kringle (K) IV-2 (g.61C>T; GenBank L14005.1) repeats in LPA, but sequence variation may also contribute. Human apo(a) contains from two to >40 nearly identical K IV-2 repeats of genomic size 5.5 kb, which makes it difficult to detect mutations. To elucidate the genetic variation of the apo(a) K IV-2 domain, we isolated a single "nonexpressing" apo(a) allele with 26 K IV-2 repeats, followed by PCR, cloning and sequencing of 96 clones, resulting in an average coverage of each K IV-2 repeat of approximately four-fold. The previously described K IV types 2A and 2B (K IV-2A and K IV-2B) were detected in 74% of the clones. In addition, a new type designated 2C (K IV-2C) was present. A nonsense mutation in the first exon of K IV-2 (g.61C>T) predicted to result in a truncated protein (p.R21X) was found in nine clones on a K IV-2A background. The presence of this mutation was confirmed by analysis of genomic DNA and was shown to represent the rare allele (frequency 0.02) of a SNP. Immunoblot analysis of apo(a) from plasma confirmed the presence of a truncated apo(a) isoform in the index individual and family members. Our data show that SNPs affecting Lp(a) plasma concentrations also exist in the apo(a) K IV-2 domain.

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Analysis of the apo(a) size polymorphism in Asian Indian populations: association with Lp(a) concentration and coronary heart disease

Cited by 56 publications

References 30 publications

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

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

Genetically Elevated Lipoprotein(a) and Increased Risk of Myocardial Infarction

A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a)

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