Hypertension, Essential, Susceptibility To, 4

For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see 145500.

Mapping

Gong et al. (2003) genotyped 94 members of a 387-member Chinese kindred with essential hypertension. An additional 32 Chinese nuclear families with essential hypertension were also recruited. Genomewide parametric linkage analysis identified a locus for primary hypertension on chromosome 12p12.2-p12.1 (parametric lod score 3.44). Gong et al. (2003) noted that this locus overlaps the assigned locus for autosomal dominant hypertension and brachydactyly (HTNB; 112410), the only form of monogenic hypertension known to that time that resembles primary hypertension. The authors identified 2 candidate genes in the region: PDE3A (123805), a cyclic nucleotide phosphodiesterase, and the sulfonylurea receptor SUR2 (601439), a subunit of an ATP-sensitive potassium channel. (The hypertension and brachydactyly syndrome is caused by heterozygous mutation in the PDE3A gene.)