Alternative titles; symbols
DO: 9352; MONDO: 0011955;
Cytogenetic location: 5q34-q35.2 Genomic coordinates (GRCh38) : 5:160,500,001-177,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5q34-q35.2 | {Diabetes mellitus, noninsulin-dependent} | 125853 | Autosomal dominant | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of type 2 diabetes mellitus (T2D), see 125853.
Reynisdottir et al. (2003) performed a genomewide linkage study of type 2 diabetes in the Icelandic population. A list of type 2 diabetics was cross-matched with a computerized genealogic database clustering 763 type 2 diabetics into 227 families. The diabetic patients and their relatives were genotyped with 906 microsatellite markers. A nonparametric multipoint linkage analysis yielded linkage to chromosome 5q34-q35.2 (lod of 2.90) in all diabetics. Reynisdottir et al. (2003) stratified the group as obese or nonobese. A nonparametric multipoint linkage analysis yielded linkage to the same region with lod of 3.64 in the nonobese diabetics. No linkage was observed in this region for the obese diabetics. Linkage analysis conditioning on maternal transmission to the nonobese diabetics resulted in a lod of score of 3.48 in the same region, whereas conditioning on paternal transmission led to a substantial drop in the lod score. Reynisdottir et al. (2003) also observed potential interactions between the 5q locus and type 2 diabetes susceptibility loci on chromosomes 10 (Duggirala et al., 1999) and 12 (NIDDM2; 601407).
Duggirala, R., Blangero, J., Almasy, L., Dyer, T. D., Williams, K. L., Leach, R. J., O'Connell, P., Stern, M. P. Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am. J. Hum. Genet. 64: 1127-1140, 1999. [PubMed: 10090898] [Full Text: https://doi.org/10.1086/302316]
Reynisdottir, I., Thorleifsson, G., Benediktsson, R., Sigurdsson, G., Emilsson, V., Einarsdottir, A. S., Hjorleifsdottir, E. E., Orlygsdottir, G. T., Bjornsdottir, G. T., Saemundsdottir, J., Halldorsson, S., Hrafnkelsdottir, S., and 11 others. Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2. Am. J. Hum. Genet. 73: 323-335, 2003. [PubMed: 12851856] [Full Text: https://doi.org/10.1086/377139]