Inherited risk for common disease

Linkage disequilibrium studies have discovered few gene-disease associations for common diseases. The explanation has been offered that complex modes of inheritance govern risk for cancers, cardiovascular and cerebrovascular diseases, and diabetes. Such studies, however, depended on the untested assumption of monoallelic risk. My research advisor and I set out to investigate whether simple forms of inherited risk, monoallelic or multiallelic, could be excluded by analysis of familial risk for a common disease, such as colorectal cancer (CRC). First, we derived formulae that describe the risk for monogenic, multigenic, and polygenic possibilities of Mendelian inheritance. Next, we obtained an estimate of minimum lifetime risk for CRC of >0.26. Then, we examined the case of late-onset CRC, using the Swedish Family Cancer Database (1958-2002) to estimate the familial relative risk for CRC diagnosis at age 50 or older, and obtained an estimated range of 1.5 to 3.0. We compared this range of actual values to the ranges of expected values for monogenic, multigenic, and polygenic modes of inheritance.

Department dc:contributor.department

Massachusetts Institute of Technology. Biological Engineering Division.

Grantor dc:publisher

Massachusetts Institute of Technology

Year dc:date.issued

2007

Author dc:creator

• Banava, Helen

Advisor dc:contributor.advisor

• William G. Thilly.

• Biological Engineering Division.

Statement dc:rights

• MIT theses are protected by copyright. They may be viewed, downloaded, or printed from this source but further reproduction or distribution in any format is prohibited without written permission.

Licence dc:rights.uri

• http://dspace.mit.edu/handle/1721.1/7582

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/1721.1/39908

OAI identifier oai:identifier

oai:dspace.mit.edu:1721.1/39908