Hypertension
| Disorder | |
|---|---|
| OMIM #: | |
| Disorder: | Hypertension |
| Also known as: | |
| Clinical | |
| Phenotype: | hypertension |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | HSD11B2 |
| Base Change: | C>T, at nucleotide 680 |
| Amino Acid Change: | pro 227 --> leu |
| 2 Hutterite | |
| Gene: | AGT |
| Base Change: | T>C, at nucleotide 803 |
| Amino Acid Change: | met 268 --> thr |
| 3 Hutterite | |
| Gene: | AGT |
| Base Change: | C>T, at nucleotide 620 |
| Amino Acid Change: | thr 207 --> met |
| 4 Hutterite | |
| Gene: | ITGB3 |
| Base Change: | |
| Amino Acid Change: | leu 33 --> pro |
| Last updated: | 2022-11-05 |
| References |
|---|
| Hegele R, Brunt J, and Connelly PW. (1994) A polymorphism of the angiotensinogen gene associated with variation in blood pressure in a genetic isolate. Circulation 90: 2207-2212. PubMed ID: 7955175 |
| Weiss L, Abney M, Parry R, Scanu A, Cook E, and Ober C. (2005) Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample. Hum. Genet. 117: 81-87. PubMed ID: 15834589 |
| Wilson R, Dave-Sharma S, Wei J-Q, Obeyesekere V, Li K, Ferrari P, Krozowski Z, Shackleton C, Bradlow L, Wiens T, New M. (1998) A genetic defect resulting in mild low-renin hypertension. Proc. Natl. Acad. Sci. 95(17): 10200-5. PubMed ID: 9707624 |
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