Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hypertension

Disorder
OMIM #:
Disorder: Hypertension 
Also known as:  
Clinical
Phenotype:  
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: 2015-11-05 

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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