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Genetic and functional association of FAM5C with myocardial infarction.

Publication ,  Journal Article
Connelly, JJ; Shah, SH; Doss, JF; Gadson, S; Nelson, S; Crosslin, DR; Hale, AB; Lou, X; Wang, T; Haynes, C; Seo, D; Crossman, DC; Mooser, V ...
Published in: BMC Med Genet
April 22, 2008

BACKGROUND: We previously identified a 40 Mb region of linkage on chromosome 1q in our early onset coronary artery disease (CAD) genome-wide linkage scan (GENECARD) with modest evidence for linkage (n = 420, LOD 0.95). When the data are stratified by acute coronary syndrome (ACS), this modest maximum in the overall group became a well-defined LOD peak (maximum LOD of 2.17, D1S1589/D1S518). This peak overlaps a recently identified inflammatory biomarker (MCP-1) linkage region from the Framingham Heart Study (maximum LOD of 4.27, D1S1589) and a region of linkage to metabolic syndrome from the IRAS study (maximum LOD of 2.59, D1S1589/D1S518). The overlap of genetic screens in independent data sets provides evidence for the existence of a gene or genes for CAD in this region. METHODS: A peak-wide association screen (457 SNPs) was conducted of a region 1 LOD score down from the peak marker (168-198 Mb) in a linkage peak for acute coronary syndrome (ACS) on chromosome 1, within a family-based early onset coronary artery disease (CAD) sample (GENECARD). RESULTS: Polymorphisms were identified within the 'family with sequence similarity 5, member C' gene (FAM5C) that show genetic linkage to and are associated with myocardial infarction (MI) in GENECARD. The association was confirmed in an independent CAD case-control sample (CATHGEN) and strong association with MI was identified with single nucleotide polymorphisms (SNPs) in the 3' end of FAM5C. FAM5C genotypes were also correlated with expression of the gene in human aorta. Expression levels of FAM5C decreased with increasing passage of proliferating aortic smooth muscle cells (SMC) suggesting a role for this molecule in smooth muscle cell proliferation and senescence. CONCLUSION: These data implicate FAM5C alleles in the risk of myocardial infarction and suggest further functional studies of FAM5C are required to identify the gene's contribution to atherosclerosis.

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Published In

BMC Med Genet

DOI

EISSN

1471-2350

Publication Date

April 22, 2008

Volume

9

Start / End Page

33

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Reverse Transcriptase Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Myocardial Infarction
  • Muscle, Smooth, Vascular
  • Middle Aged
  • Male
  • Lod Score
  • Humans
  • Genotype
 

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Connelly, J. J., Shah, S. H., Doss, J. F., Gadson, S., Nelson, S., Crosslin, D. R., … Gregory, S. G. (2008). Genetic and functional association of FAM5C with myocardial infarction. BMC Med Genet, 9, 33. https://doi.org/10.1186/1471-2350-9-33
Connelly, Jessica J., Svati H. Shah, Jennifer F. Doss, Shera Gadson, Sarah Nelson, David R. Crosslin, A Brent Hale, et al. “Genetic and functional association of FAM5C with myocardial infarction.BMC Med Genet 9 (April 22, 2008): 33. https://doi.org/10.1186/1471-2350-9-33.
Connelly JJ, Shah SH, Doss JF, Gadson S, Nelson S, Crosslin DR, et al. Genetic and functional association of FAM5C with myocardial infarction. BMC Med Genet. 2008 Apr 22;9:33.
Connelly, Jessica J., et al. “Genetic and functional association of FAM5C with myocardial infarction.BMC Med Genet, vol. 9, Apr. 2008, p. 33. Pubmed, doi:10.1186/1471-2350-9-33.
Connelly JJ, Shah SH, Doss JF, Gadson S, Nelson S, Crosslin DR, Hale AB, Lou X, Wang T, Haynes C, Seo D, Crossman DC, Mooser V, Granger CB, Jones CJH, Kraus WE, Hauser ER, Gregory SG. Genetic and functional association of FAM5C with myocardial infarction. BMC Med Genet. 2008 Apr 22;9:33.
Journal cover image

Published In

BMC Med Genet

DOI

EISSN

1471-2350

Publication Date

April 22, 2008

Volume

9

Start / End Page

33

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Reverse Transcriptase Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Myocardial Infarction
  • Muscle, Smooth, Vascular
  • Middle Aged
  • Male
  • Lod Score
  • Humans
  • Genotype