The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children

Neil S. Shachter, Daniel Rabinowitz, Sheldon Stohl, Karin Conde-Knape, Jeffrey S. Cohn, Richard J. Deckelbaum, Lars Berglund, Steven Shea

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

We examined the effect of APOC1-317insCGTT allele status (HpaI RFLP, deletion [H1] and insertion [H2] alleles) on serum apolipoprotein (apo) C-I level in 362 Hispanic children in the Columbia University BioMarkers Study. The H2 allele was present in 147 subjects (40.6%). Serum apoC-I was 20% lower in the presence of the H2 allele in APOE ε3/ε3 homozygotes (P = 0.003) but did not differ by H2 status in ε4 carriers. Insufficient numbers of ε2 carriers (N = 45) were present for analysis. In multivariate analysis in the ε3/ε3 context, after adjusting for potential covariate effects and familial aggregation, the mean effect of H2/* versus H1/H1 on apoC-I level, was estimated to be 2.15 ± 0.55 mg/dl (P < 0.0025). Plasma triglyceride level was weakly correlated with serum apoC-I level (Pearson's r = 0.17, P < 0.001) but was highly correlated with serum apoC-III (Pearson's r = 0.74, P < 0.0001). Nevertheless, presence of the H2 allele was not significantly associated with serum apoC-III level. Thus, the effect of APOC1 genotype on serum apoC-I level was not due to apoC-I level serving as a surrogate for triglyceride level. The APOC1-317insCGTT allele is a commonly polymorphic genetic marker that is associated with serum apoC-I level in the APOE ε3/ε3 context. These findings suggest that the mechanism of the previously described association with plasma TG is, at least in part, related to the correlation of the polymorphism with the level of expression of apoC-I.

Original languageEnglish (US)
Pages (from-to)387-393
Number of pages7
JournalAtherosclerosis
Volume179
Issue number2
DOIs
StatePublished - Apr 2005

Fingerprint

Apolipoprotein C-I
Apolipoproteins C
Hispanic Americans
Alleles
Serum
Apolipoprotein C-III
Triglycerides
Homozygote
Genetic Markers
Restriction Fragment Length Polymorphisms
Multivariate Analysis
Biomarkers
Genotype

Keywords

  • Apolipoproteins C
  • Apolipoproteins E
  • Biochemical
  • Genetics
  • Genotype
  • Hypertriglyceridemia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Shachter, N. S., Rabinowitz, D., Stohl, S., Conde-Knape, K., Cohn, J. S., Deckelbaum, R. J., ... Shea, S. (2005). The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children. Atherosclerosis, 179(2), 387-393. https://doi.org/10.1016/j.atherosclerosis.2004.10.032

The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children. / Shachter, Neil S.; Rabinowitz, Daniel; Stohl, Sheldon; Conde-Knape, Karin; Cohn, Jeffrey S.; Deckelbaum, Richard J.; Berglund, Lars; Shea, Steven.

In: Atherosclerosis, Vol. 179, No. 2, 04.2005, p. 387-393.

Research output: Contribution to journalArticle

Shachter, Neil S. ; Rabinowitz, Daniel ; Stohl, Sheldon ; Conde-Knape, Karin ; Cohn, Jeffrey S. ; Deckelbaum, Richard J. ; Berglund, Lars ; Shea, Steven. / The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children. In: Atherosclerosis. 2005 ; Vol. 179, No. 2. pp. 387-393.
@article{db35f23a90be473493abad3023200ce3,
title = "The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children",
abstract = "We examined the effect of APOC1-317insCGTT allele status (HpaI RFLP, deletion [H1] and insertion [H2] alleles) on serum apolipoprotein (apo) C-I level in 362 Hispanic children in the Columbia University BioMarkers Study. The H2 allele was present in 147 subjects (40.6{\%}). Serum apoC-I was 20{\%} lower in the presence of the H2 allele in APOE ε3/ε3 homozygotes (P = 0.003) but did not differ by H2 status in ε4 carriers. Insufficient numbers of ε2 carriers (N = 45) were present for analysis. In multivariate analysis in the ε3/ε3 context, after adjusting for potential covariate effects and familial aggregation, the mean effect of H2/* versus H1/H1 on apoC-I level, was estimated to be 2.15 ± 0.55 mg/dl (P < 0.0025). Plasma triglyceride level was weakly correlated with serum apoC-I level (Pearson's r = 0.17, P < 0.001) but was highly correlated with serum apoC-III (Pearson's r = 0.74, P < 0.0001). Nevertheless, presence of the H2 allele was not significantly associated with serum apoC-III level. Thus, the effect of APOC1 genotype on serum apoC-I level was not due to apoC-I level serving as a surrogate for triglyceride level. The APOC1-317insCGTT allele is a commonly polymorphic genetic marker that is associated with serum apoC-I level in the APOE ε3/ε3 context. These findings suggest that the mechanism of the previously described association with plasma TG is, at least in part, related to the correlation of the polymorphism with the level of expression of apoC-I.",
keywords = "Apolipoproteins C, Apolipoproteins E, Biochemical, Genetics, Genotype, Hypertriglyceridemia",
author = "Shachter, {Neil S.} and Daniel Rabinowitz and Sheldon Stohl and Karin Conde-Knape and Cohn, {Jeffrey S.} and Deckelbaum, {Richard J.} and Lars Berglund and Steven Shea",
year = "2005",
month = "4",
doi = "10.1016/j.atherosclerosis.2004.10.032",
language = "English (US)",
volume = "179",
pages = "387--393",
journal = "Atherosclerosis",
issn = "0021-9150",
publisher = "Elsevier Ireland Ltd",
number = "2",

}

TY - JOUR

T1 - The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children

AU - Shachter, Neil S.

AU - Rabinowitz, Daniel

AU - Stohl, Sheldon

AU - Conde-Knape, Karin

AU - Cohn, Jeffrey S.

AU - Deckelbaum, Richard J.

AU - Berglund, Lars

AU - Shea, Steven

PY - 2005/4

Y1 - 2005/4

N2 - We examined the effect of APOC1-317insCGTT allele status (HpaI RFLP, deletion [H1] and insertion [H2] alleles) on serum apolipoprotein (apo) C-I level in 362 Hispanic children in the Columbia University BioMarkers Study. The H2 allele was present in 147 subjects (40.6%). Serum apoC-I was 20% lower in the presence of the H2 allele in APOE ε3/ε3 homozygotes (P = 0.003) but did not differ by H2 status in ε4 carriers. Insufficient numbers of ε2 carriers (N = 45) were present for analysis. In multivariate analysis in the ε3/ε3 context, after adjusting for potential covariate effects and familial aggregation, the mean effect of H2/* versus H1/H1 on apoC-I level, was estimated to be 2.15 ± 0.55 mg/dl (P < 0.0025). Plasma triglyceride level was weakly correlated with serum apoC-I level (Pearson's r = 0.17, P < 0.001) but was highly correlated with serum apoC-III (Pearson's r = 0.74, P < 0.0001). Nevertheless, presence of the H2 allele was not significantly associated with serum apoC-III level. Thus, the effect of APOC1 genotype on serum apoC-I level was not due to apoC-I level serving as a surrogate for triglyceride level. The APOC1-317insCGTT allele is a commonly polymorphic genetic marker that is associated with serum apoC-I level in the APOE ε3/ε3 context. These findings suggest that the mechanism of the previously described association with plasma TG is, at least in part, related to the correlation of the polymorphism with the level of expression of apoC-I.

AB - We examined the effect of APOC1-317insCGTT allele status (HpaI RFLP, deletion [H1] and insertion [H2] alleles) on serum apolipoprotein (apo) C-I level in 362 Hispanic children in the Columbia University BioMarkers Study. The H2 allele was present in 147 subjects (40.6%). Serum apoC-I was 20% lower in the presence of the H2 allele in APOE ε3/ε3 homozygotes (P = 0.003) but did not differ by H2 status in ε4 carriers. Insufficient numbers of ε2 carriers (N = 45) were present for analysis. In multivariate analysis in the ε3/ε3 context, after adjusting for potential covariate effects and familial aggregation, the mean effect of H2/* versus H1/H1 on apoC-I level, was estimated to be 2.15 ± 0.55 mg/dl (P < 0.0025). Plasma triglyceride level was weakly correlated with serum apoC-I level (Pearson's r = 0.17, P < 0.001) but was highly correlated with serum apoC-III (Pearson's r = 0.74, P < 0.0001). Nevertheless, presence of the H2 allele was not significantly associated with serum apoC-III level. Thus, the effect of APOC1 genotype on serum apoC-I level was not due to apoC-I level serving as a surrogate for triglyceride level. The APOC1-317insCGTT allele is a commonly polymorphic genetic marker that is associated with serum apoC-I level in the APOE ε3/ε3 context. These findings suggest that the mechanism of the previously described association with plasma TG is, at least in part, related to the correlation of the polymorphism with the level of expression of apoC-I.

KW - Apolipoproteins C

KW - Apolipoproteins E

KW - Biochemical

KW - Genetics

KW - Genotype

KW - Hypertriglyceridemia

UR - http://www.scopus.com/inward/record.url?scp=14944360454&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=14944360454&partnerID=8YFLogxK

U2 - 10.1016/j.atherosclerosis.2004.10.032

DO - 10.1016/j.atherosclerosis.2004.10.032

M3 - Article

C2 - 15777558

AN - SCOPUS:14944360454

VL - 179

SP - 387

EP - 393

JO - Atherosclerosis

JF - Atherosclerosis

SN - 0021-9150

IS - 2

ER -