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      Genetic variants of Complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population

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          Abstract

          Background

          The complement factor H (CFH) gene has been recently confirmed to play an essential role in the development of age-related macular degeneration (AMD). There are conflicting reports of its role in coronary heart disease. This study was designed to investigate if, using a family-based approach, there was an association between genetic variants of the CFH gene and risk of early-onset coronary heart disease.

          Methods

          We evaluated 6 SNPs and 5 common haplotypes in the CFH gene amongst 1494 individuals in 580 Irish families with at least one member prematurely affected with coronary heart disease. Genotypes were determined by multiplex SNaPshot technology.

          Results

          Using the TDT/S-TDT test, we did not find an association between any of the individual SNPs or any of the 5 haplotypes and early-onset coronary heart disease.

          Conclusion

          In this family-based study, we found no association between the CFH gene and early-onset coronary heart disease.

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          Most cited references19

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          The human complement factor H: functional roles, genetic variations and disease associations.

          Santiago Rodríguez de Córdoba, Elena Goicoechea, Jorge Esparza-Gordillo … (2004)
          Factor H is an essential regulatory protein that plays a critical role in the homeostasis of the complement system in plasma and in the protection of bystander host cells and tissues from damage by complement activation. Genetic and structural data generated during recent years have been instrumental to delineate the functional domains responsible for these regulatory activities in factor H, which is helping to understand the molecular basis underlying the different pathologies associated to factor H. This review summarises our current knowledge of the role of factor H in health and disease.
          Article 0 comments Cited 120 times – based on 0 reviews     Review now
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            The electrocardiogram in population studies. A classification system.

            Kari A. Keys, P Rautaharju, Oscar Simonson … (1960)
            Article 0 comments Cited 75 times – based on 0 reviews     Review now
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              A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test.

              W Ewens, Derek S. Spielman (1998)
              Linkage analysis with genetic markers has been successful in the localization of genes for many monogenic human diseases. In studies of complex diseases, however, tests that rely on linkage disequilibrium (the simultaneous presence of linkage and association) are often more powerful than those that rely on linkage alone. This advantage is illustrated by the transmission/disequilibrium test (TDT). The TDT requires data (marker genotypes) for affected individuals and their parents; for some diseases, however, data from parents may be difficult or impossible to obtain. In this article, we describe a method, called the "sib TDT" (or "S-TDT"), that overcomes this problem by use of marker data from unaffected sibs instead of from parents, thus allowing application of the principle of the TDT to sibships without parental data. In a single collection of families, there might be some that can be analyzed only by the TDT and others that are suitable for analysis by the S-TDT. We show how all the data may be used jointly in one overall TDT-type procedure that tests for linkage in the presence of association. These extensions of the TDT will be valuable for the study of diseases of late onset, such as non-insulin-dependent diabetes, cardiovascular diseases, and other diseases associated with aging.
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                Author and article information

                Journal
                Journal ID (nlm-ta): BMC Med Genet
                Title: BMC Medical Genetics
                Publisher: BioMed Central|1
                ISSN (Electronic): 1471-2350
                Publication date Collection: 2007
                Publication date (Electronic): 18 September 2007
                Volume: 8
                Page: 62
                Affiliations
                [1 ]Centre for Clinical and Population Sciences, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK
                [2 ]Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK
                [3 ]Department of Medicine, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK
                Article
                Publisher ID: 1471-2350-8-62
                DOI: 10.1186/1471-2350-8-62
                PMC ID: 2048938
                PubMed ID: 17877809
                SO-VID: 77226c0f-2e97-4519-9c76-2cfe25c93bcf
                Copyright © Copyright © 2007 Meng et al; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 1 June 2007
                Date accepted : 18 September 2007
                Categories
                Subject: Research Article

                ScienceOpen disciplines: Genetics
                Data availability:
                ScienceOpen disciplines: Genetics

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