Common and rare variants in multifactorial susceptibility to common diseases.
paper
Cited
Public
- Authors
- Bodmer, Walter; Bonilla, Carolina
- Year
- 2008
- Journal
- Nature genetics
- PMID
- 18509313
- DOI
- 10.1038/ng.f.136
- PMCID
- PMC2527050
Here, we give a historical overview of the search for genetic variants that influence the susceptibility of an individual to a chronic disease, from RA Fisher's seminal work to the current excitement of whole-genome association studies (WGAS). We then discuss the concepts behind the identification of common variants as disease causal factors and contrast them to the basic ideas that underlie the rare variant hypothesis. The identification of rare variants involves the careful selection of candidate genes to examine, the availability of highly efficient resequencing techniques and the appropriate assessment of the functional consequences of the implicated variant. We believe that this strategy can be successfully applied at present in order to unravel the contribution of rare variants to the multifactorial inheritance of common diseases, which could lead to the implementation of much needed preventative screening schemes.
HLA and disease associations. Association of HLA alleles and disease as originally reported in ref. 34.
Distribution of odds ratios for common and rare variants. Odds ratios were obtained from the literature (Supplementary Note). We included 61 rare variants and 217 common variants in this analysis.
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| Name | Type |
|---|---|
| 124 individuals with multiple colorectal adenomatous polyps local | cohort |
| ABO | gene |
| acute lymphatic leukemia local | phenotype |
| ankylosing spondylitis local | phenotype |
| APC local | gene |
| APC rare missense variant local | variant |
| AXIN1 | gene |
| BRCA1 | gene |
| BRCA2 | gene |
| breast cancer | phenotype |
| cancer | phenotype |
| candidate genes | cohort |
| Case groups local | cohort |
| colorectal adenomas local | phenotype |
| colorectal adenomatous polyps local | phenotype |
| colorectal cancer | phenotype |
| common breast cancer susceptibility variants local | variant |
| common chronic diseases local | phenotype |
| common disease-associated variants local | variant |
| common variants | cohort |
| common variants for Crohn's disease local | variant |
| common variants for T1D local | variant |
| control population | cohort |
| Control populations local | cohort |
| controls | cohort |
| Crohn's disease | phenotype |
| CTNNB1 | gene |
| Dd local | variant |
| deleterious mutation local | variant |
| disease | phenotype |
| disease-associated variant | variant |
| disease group local | cohort |
| Dw3 local | gene |
| Dw4 local | gene |
| early age of onset | phenotype |
| environmental factors | drug |
| European population | cohort |
| Familial adenomatous polyposis local | phenotype |
| functional variant | variant |
| genes | gene |
| genetic load local | phenotype |
| genotype by environmental effects local | phenotype |
| Gross virus-induced leukemia local | phenotype |
| H-2 local | gene |
| H-2 linked immune response genes local | gene |
| HDL cholesterol | phenotype |
| HDL cholesterol levels local | phenotype |
| hemochromatosis local | phenotype |
| Hereditary nonpolyposis colorectal cancer local | phenotype |
| HLA | gene |
| HLA-4c local | gene |
| HLA-B | gene |
| HLA-B15 local | gene |
| HLA-B27 local | variant |
| HLA-B8 local | gene |
| HLA class II antigens local | gene |
| HLA-DP13 local | variant |
| HLA-DQ local | gene |
| HLA-DR3 local | gene |
| HLA-DR4 local | gene |
| Hodgkin's disease local | phenotype |
| Human chronic disease local | phenotype |
| Mismatch repair genes local | gene |
| missense variants | variant |
| MLH1 | gene |
| MSH2 | gene |
| multiple sclerosis | phenotype |
| neutral | phenotype |
| neutral variants local | variant |
| non-European ancestry | cohort |
| personalized medicine | phenotype |
| polymorphic variation local | phenotype |
| population specific local | phenotype |
| promoter regions local | variant |
| prostate cancer | phenotype |
| rare BRCA1 variants local | variant |
| rare BRCA2 variants local | variant |
| rare variant | cohort |
| rare variants for colorectal adenomas local | variant |
| recessive deleterious mutations local | variant |
| recessive lethals local | variant |
| SNP | cohort |
| SNPs at 8q24 local | variant |
| stomach cancer local | phenotype |
| type 1 diabetes | phenotype |
| variant | cohort |
| WGAS local | cohort |
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