DO: 10825; MONDO: 0012599;
Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38) : 18:50,700,001-56,200,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 18q21.2 | {Hypertension, essential, susceptibility to, 8} | 611014 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see 145500.
Guzman et al. (2006) genotyped 56 Spanish pedigrees with hypertensive sib pairs and found excess allele sharing at marker D18S474, with a maximum likelihood of identical by descent sharing lod score of 3.24 both under dominance variance (p = 0.00011) and nondominance variance (p = 0.00005). Nonparametric linkage analysis using all of the available family members produced an NPL of 3.32 (p = 0.00044) on the same marker. Using 2 tagged SNPs (rs1941958 and rs1893379) from the candidate gene MEX3C (611005), Guzman et al. (2006) performed a case-control association study of 112 hypertensive patients and 156 controls, and observed significant overrepresentation of the rs1941958G-rs1893379T MEX3C haplotype in hypertensive patients compared with controls (p = 0.0004 after Bonferroni correction; OR, 2.32). The authors also detected epistatic effects between the 2 MEX3C SNPs (p = 0.002 after Bonferroni correction; OR, 2.48). Guzman et al. (2006) concluded that MEX3C contributes to essential hypertension in Spanish patients.
Guzman, B., Cormand, B., Ribases, M., Gonzalez-Nunez, D., Botey, A., Poch, E. Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene. Hypertension 48: 883-891, 2006. [PubMed: 17015768] [Full Text: https://doi.org/10.1161/01.HYP.0000244085.52918.a0]