DO: 9074;
Cytogenetic location: 20p12 Genomic coordinates (GRCh38): 20:5,100,001-17,900,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 20p12 | {Systemic lupus erythematosus, susceptibility to, 7} | 610065 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see 152700.
Gaffney et al. (1998) provided evidence for linkage of SLE to chromosome 20 (D20S186, lod = 2.62) in a study of 105 SLE sib-pair pedigrees. The subsequent addition of 82 independent pedigrees further refined the linkage signal with the emergence of 2 peaks, 1 at 20p12 (D20S186, lod = 1.77) and 1 at 20q13.1 (SLEB8; 610066) (Gaffney et al., 2000). Gaffney et al. (2006) reported the results of a dense fine mapping effort on chromosome 20 using microsatellite and SNP markers distributed across 20p12 and 20q13. These analyses were performed in an expanded collection of 230 SLE multiplex pedigrees, including 44 families not previously reported. Maximal evidence for linkage to SLE was to 20p12 (lod = 2.84) and 20q13.1 (lod = 1.64) in the white pedigrees. Subsetting families on the basis of evidence for linkage to 16q12 significantly improved the lod scores at both chromosome 20 locations (20p12, lod = 5.06; 20q13, lod = 3.65), consistent with epistasis. These data provided additional support for linkage and association to 20p12 and 20q13.1 in SLE. The data further suggested the possibility of epistatic relationships among loci within the 20p12, 20q13, and 16q12 regions in SLE families. For evidence of linkage to chromosome 16, see SLEB6 (609939).
Gaffney, P. M., Kearns, G. M., Shark, K. B., Ortmann, W. A., Selby, S. A., Malmgren, M. L., Rohlf, K. E., Ockenden, T. C., Messner, R. P., King, R. A., Rich, S. S., Behrens, T. W. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc. Nat. Acad. Sci. 95: 14875-14879, 1998. [PubMed: 9843983] [Full Text: https://doi.org/10.1073/pnas.95.25.14875]
Gaffney, P. M., Langefeld, C. D., Graham, R. R., Ortmann, W. A., Williams, A. H., Rodine, P. R., Moser, K. L., Behrens, T. W. Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12. Am. J. Hum. Genet. 78: 747-758, 2006. [PubMed: 16642431] [Full Text: https://doi.org/10.1086/503686]
Gaffney, P. M., Ortmann, W. A., Selby, S. A., Shark, K. B., Ockenden, T. C., Rohlf, K. E., Walgrave, N. L., Boyum, W. P., Malmgren, M. L., Miller, M. E., Kearns, G. M., Messner, R. P., King, R. A., Rich, S. S., Behrens, T. W. Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am. J. Hum. Genet. 66: 547-556, 2000. [PubMed: 10677315] [Full Text: https://doi.org/10.1086/302767]