Alternative titles; symbols
HGNC Approved Gene Symbol: ADIPQTL2
Cytogenetic location: 5p15.2-p14 Genomic coordinates (GRCh38) : 5:9,900,001-28,900,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5p15.2-p14 | {Adiponectin, serum level of, QTL2} | 606770 | 2 |
For a discussion of the genetic heterogeneity in serum adiponectin levels, see ADIPQTL1 (612556).
Adiponectin (ADIPOQ; 605441) is an exclusively adipocyte-derived protein expressed inversely to total fat and is thought to play a role in mediating the obesity-related risk for coronary artery disease and type 2 diabetes mellitus (125853). Comuzzie et al. (2001) assayed serum levels of adiponectin in 1,100 adults of predominantly northern European ancestry distributed across 170 families. Quantitative genetic analysis of adiponectin levels detected an additive genetic heritability of 46%. The maximum lod score detected in a genomewide scan for adiponectin levels was 4.06 (P = 7.7 x 10-6), 35 cM from pter near D5S817 on chromosome 5. The second largest lod score (lod = 3.2; P = 6.2 x 10-5) was detected on chromosome 14, 29 cM from pter (ADIPQTL3; 606771). The detection of a significant linkage with a quantitative trait locus on chromosome 5 provides strong evidence for a replication of a previously reported quantitative trait locus for obesity-related phenotypes.
Comuzzie, A. G., Funahashi, T., Sonnenberg, G., Martin, L. J., Jacob, H. J., Kwitek Black, A. E., Maas, D., Takahashi, M., Kihara, S., Tanaka, S., Matsuzawa, Y., Blangero, J., Cohen, D., Kissebah, A. The genetic basis of plasma variation in adiponectin, a global endophenotype for obesity and the metabolic syndrome. J. Clin. Endocr. Metab. 86: 4321-4325, 2001. [PubMed: 11549668] [Full Text: https://doi.org/10.1210/jcem.86.9.7878]