Document Detail

Two rare variants explain association with acute myocardial infarction in an extended genomic region including the apolipoprotein(A) gene.
MedLine Citation:
PMID:  23278389     Owner:  NLM     Status:  MEDLINE    
Relatively low numbers of kringle 4 type 2 repeats in apolipoprotein(a) and specific haplotypes of the SLC22A3-LPAL2-LPA region on chromosome 6 are associated with an increased risk of coronary disease. We examined the possibility that rs3798220 and rs10455872, short variations located in LPA [the apolipoprotein(a) gene], and related to the number of kringle 4 type 2 repeats, may serve as markers for the association between haplotypes and acute myocardial infarction. Genotypes were determined with TaqMan assays in a sample of 2136 cases and 1211 controls. The minor alleles of rs3798220 and rs10455872 were associated with increased risks (rs3798220-C: adjusted OR 2.14, 95% CI, 1.37-3.33, P = 0.00080; rs10455872-G: adjusted OR 1.74, 95% CI 1.36-2.24, P < 0.00001). After adjustments were made for potential confounders, none of nine polymorphisms included in a haplotype analysis were singly related to disease. Two risk haplotypes were identified; one (CCTTGTGTG; OR 1.25, 95% CI 1.08-1.45, P = 0.0022) was correlated with rs3798220-C and the other (CCCTGGATC; OR 1.65, 95% CI 1.14-2.38, P = 0.0074) with rs10455872-G. Thus, the findings allowed for a more precise definition of risk-associated markers: specific nucleotides in LPA instead of standard haplotypes defined by noneffective variants from the extensive SLC22A3-LPAL2-LPA region.
Werner Koch; Jakob C Mueller; Matthias Schrempf; Hannah Wolferstetter; Johannes Kirchhofer; Albert Schömig; Adnan Kastrati
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of human genetics     Volume:  77     ISSN:  1469-1809     ISO Abbreviation:  Ann. Hum. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-01-02     Completed Date:  2013-04-19     Revised Date:  2013-06-04    
Medline Journal Info:
Nlm Unique ID:  0416661     Medline TA:  Ann Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  47-55     Citation Subset:  IM    
Copyright Information:
© 2012 Blackwell Publishing Ltd/University College London.
Deutsches Herzzentrum München, Munich, Germany.
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MeSH Terms
Aged, 80 and over
Apolipoproteins A / genetics*
Genetic Predisposition to Disease
Middle Aged
Myocardial Infarction / genetics*
Polymorphism, Single Nucleotide*
Reg. No./Substance:
0/Apolipoproteins A

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