Review Article
Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension
Table 1
A summary of novel genetic mutation associated with monogenic hypertension.
| Diseases | Detection methods | Genes | Variants | Effects | Authors |
| AME | Next-generation sequencing, Sanger sequencing | HSD11B2 | c.343_348del; c.1099_1101del | Glu115 and Leu116 deletion; Phe367 deletion | [26] | AME | Sanger sequencing | HSD11B2 | c.900 dup | Glu301Argfs56 | [28] | AME | Sanger sequencing | HSD11B2 | c.799A > G | p.T267A substitution; misalignment of NAD in the coenzyme-binding site | [27] | AME | Pyrosequencing | HSD11B2 | c.C662G | p.A221G substitution | [29] | AME | Sanger sequencing | HSD11B2 | c.G526A | p.D176N substitution | [30] | LS | Next-generation sequencing, Sanger sequencing | SCNN1B | c.C1988A | p.Tyr604 substitution | [38] | LS | Sanger sequencing | SCNN1G | p.Arg586Valfs598 | PY motif deletion | [39] | LS | Sanger sequencing | SCNN1B | c.1721delC | p.Pro574HisfsX675 | [40] | GS | Sanger sequencing | WNK4 | c.G1690A | p.D564N substitution | [53] | GS | Next-generation sequencing | KLHL3 | c.1492C > T | p.His498Tyr substitution | [54] |
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The asterisk ( ) symbol represents a translation termination (stop) codon. |