Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate Phenotypes
The deconstruction of vulnerability to complex disease with the help of intermediate phenotypes, including the heritable and disease-associated endophenotypes, is a legacy of Henri Begleiter. Systematic searches for genes influencing complex disorders, including bipolar disorder, have recently been...
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| Format: | Article |
| Language: | English |
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Wiley
2007-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/tsw.2007.210 |
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| author | David Goldman Francesca Ducci |
| author_facet | David Goldman Francesca Ducci |
| author_sort | David Goldman |
| collection | DOAJ |
| description | The deconstruction of vulnerability to complex disease with the help of intermediate phenotypes, including the heritable and disease-associated endophenotypes, is a legacy of Henri Begleiter. Systematic searches for genes influencing complex disorders, including bipolar disorder, have recently been completed using whole genome association (WGA), identifying a series of validated loci. Using this information, it is possible to compare effect sizes of disease loci discovered in very large samples to the effect sizes of replicated functional loci determining intermediate phenotypes that are of essential interest in psychiatric disorders. It is shown that the genes influencing intermediate phenotypes tend to have a larger effect size. Furthermore, the WGA results reveal that the number of loci of large effect size for complex diseases is limited, and yet multiple functional loci have already been identified for intermediate phenotypes relevant to psychiatric diseases, and without the benefit of WGA. |
| format | Article |
| id | doaj-art-43f92ea43ae945ce91e7732144088334 |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2007-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-43f92ea43ae945ce91e77321440883342025-02-03T01:12:38ZengWileyThe Scientific World Journal1537-744X2007-01-01712413010.1100/tsw.2007.210Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate PhenotypesDavid Goldman0Francesca Ducci1Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, USALaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, USAThe deconstruction of vulnerability to complex disease with the help of intermediate phenotypes, including the heritable and disease-associated endophenotypes, is a legacy of Henri Begleiter. Systematic searches for genes influencing complex disorders, including bipolar disorder, have recently been completed using whole genome association (WGA), identifying a series of validated loci. Using this information, it is possible to compare effect sizes of disease loci discovered in very large samples to the effect sizes of replicated functional loci determining intermediate phenotypes that are of essential interest in psychiatric disorders. It is shown that the genes influencing intermediate phenotypes tend to have a larger effect size. Furthermore, the WGA results reveal that the number of loci of large effect size for complex diseases is limited, and yet multiple functional loci have already been identified for intermediate phenotypes relevant to psychiatric diseases, and without the benefit of WGA.http://dx.doi.org/10.1100/tsw.2007.210 |
| spellingShingle | David Goldman Francesca Ducci Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate Phenotypes The Scientific World Journal |
| title | Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate Phenotypes |
| title_full | Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate Phenotypes |
| title_fullStr | Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate Phenotypes |
| title_full_unstemmed | Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate Phenotypes |
| title_short | Deconstruction of Vulnerability to Complex Diseases: Enhanced Effect Sizes and Power of Intermediate Phenotypes |
| title_sort | deconstruction of vulnerability to complex diseases enhanced effect sizes and power of intermediate phenotypes |
| url | http://dx.doi.org/10.1100/tsw.2007.210 |
| work_keys_str_mv | AT davidgoldman deconstructionofvulnerabilitytocomplexdiseasesenhancedeffectsizesandpowerofintermediatephenotypes AT francescaducci deconstructionofvulnerabilitytocomplexdiseasesenhancedeffectsizesandpowerofintermediatephenotypes |