Open Access Highly Accessed Research article

Genetic and functional association of FAM5C with myocardial infarction

Jessica J Connelly1, Svati H Shah12, Jennifer F Doss1, Shera Gadson1, Sarah Nelson1, David R Crosslin1, A Brent Hale1, Xuemei Lou1, Ty Wang1, Carol Haynes1, David Seo3, David C Crossman4, Vincent Mooser5, Christopher B Granger2, Christopher JH Jones6, William E Kraus12, Elizabeth R Hauser1 and Simon G Gregory1*

Author Affiliations

1 Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC, USA

2 Department of Medicine and Division of Cardiology, Duke University Medical Center, Durham, NC, USA

3 Miller School of Medicine, University of Miami, Miami, FL, USA

4 University of Sheffield, Sheffield, UK

5 GlaxoSmithKline, Philadelphia, PA, USA

6 University of Wales College of Medicine, Cardiff, UK

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BMC Medical Genetics 2008, 9:33  doi:10.1186/1471-2350-9-33

Published: 22 April 2008

Additional files

Additional file 1:

Figure 1. The location of rs10920501 and the SNPs it represents. UCSC genome browser output for chr1:188,266,509–188,418,688 basepairs (build 36) containing the 3' end of the FAM5C gene. The sequenced regions of high conservation present in the last intron of FAM5C are indicated by black arrows.

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Additional file 2:

Figure 2. FAM5C is ubiquitously expressed in human tissues. FAM5C RT-PCR was performed on RNA derived from 20 human tissues (as labeled) and proliferating aortic endothelial (HAEC, passage 6) and smooth muscle cells (AoSMC, passage5 and 8). GAPDH is displayed to assess template input.

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Additional file 3:

Table 1. The list of SNPs genotyped in the peakwide screen.

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Additional file 4:

Table 2. A list of primer sets used to amplify genomic regions of FAM5C for sequencing.

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Additional file 5:

Table 3. Sixteen significant SNPs identified in peakwide screen of chromosome 1 ACS linkage peak and replication of three associated SNPs in CATHGEN MI case-control sample.

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Additional file 6:

Table 4. tagSNP genotyping results for C1orf9 and an intergenic region surrounding rs1324713 in GENECARD ACS families.

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Additional file 7:

Table 5. tagSNP genotyping results for FAM5C in GENECARD ACS families.

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