Other entities represented in this entry:
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 12q24.11 | [Sodium serum level QTL 1] | 613508 | 3 | TRPV4 | 605427 |
A number sign (#) is used with this entry because of evidence that serum levels of sodium are influenced by variation in the TRPV4 gene (605427) on chromosome 17p13.
Tian et al. (2009) analyzed the rs3742030 SNP in the TRPV4 gene (P19S; 605427.0012) in a panel of healthy elderly individuals and found the 19S allele to be overrepresented in non-Hispanic Caucasian and African American subjects with the lowest serum sodium concentrations. Further study revealed that rs3742030 was significantly associated with serum sodium concentration and with hyponatremia, defined as serum sodium less than 135 mEq/L, in 2 non-Hispanic Caucasian male populations, and that mean serum sodium concentration was lower among subjects with the 19S allele relative to the wildtype 19P allele. Subjects with the minor allele were 2.4 to 6.4 times as likely to exhibit hyponatremia as subjects without the minor allele. Heterologous expression studies in HEK293 cells showed that P19S mutant channels showed diminished response to hypotonic stress and to the osmotransducing lipid epoxyeicosatrienoic acid compared to wildtype channels.
Tian, W., Fu, Y., Garcia-Elias, A., Fernandez-Fernandez, J. M., Vicente, R., Kramer, P. L., Klein, R. F., Hitzemann, R., Orwoll, E. S., Wilmot, B., McWeeney, S., Valverde, M. A., Cohen, D. M. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. Proc. Nat. Acad. Sci. 106: 14034-14039, 2009. [PubMed: 19666518] [Full Text: https://doi.org/10.1073/pnas.0904084106]