Key result
The alpha-adducin gene locus demonstrated strong linkage with systolic blood pressure in normotensive twins, though the 460 Trp mutation was not associated with higher blood pressures.
Why the study?
The role of the alpha-adducin gene locus in normal blood pressure regulation is not defined despite its linkage to hypertension.
Is the alpha-adducin gene locus and its 460 Trp mutation linked to or associated with blood pressure regulation in normotensive subjects?
Observational
Is the alpha-adducin gene locus and its 460 Trp mutation linked to or associated with blood pressure regulation in normotensive subjects?
The alpha-adducin gene locus is linked to systolic blood pressure regulation in normotensive subjects, although the specific 460 Trp mutation does not appear to drive this association in the absence of triggered hypertension.
Answers are grounded in this paper and cite their sources.
Supports alpha-adducin locus in normal BP regulation; leaves open which variants drive effects in normotensives.
BACKGROUND: alpha-adducin is a cytoskeletal protein involved with sodium-pump activity in the renal tubule. The alpha-adducin gene locus has been linked to hypertension and a polymorphism identified which is associated with hypertension; however, the role of the alpha-adducin gene locus in normal blood pressure regulation is not defined. We performed a combined linkage and association study in normotensive monozygotic (MZ) and dizygotic (DZ) twins and their parents to address this issue. METHODS: We studied 126 MZ and 70 DZ twin pairs and parents of DZ twins. Blood pressure values and responses to a cold pressor test were obtained. Cardiac dimensions were measured echocardiographically. Three microsatellites adjacent to the alpha-adducin gene were studied as well as the 460 Trp mutation in the alpha-adducin gene. RESULTS: We obtained strong evidence for linkage (P< 0.001) between the alpha-adducin gene locus and systolic blood pressure. However, we were not able to associate the 460 Trp mutation with higher blood pressures, cold pressor responses or cardiac dimensions. CONCLUSIONS: The alpha-adducin gene locus is relevant to blood pressure regulation in normal subjects. Failure to find an association between higher blood pressures and the 460 Trp mutation suggests that this mutation may become important only when hypertension is triggered, or that other variations in alpha-adducin are present which have not yet been discovered.
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Busjahn et al. (1999) conducted an observational in Normotension. alpha-adducin gene locus and 460 Trp mutation was evaluated on Linkage between the alpha-adducin gene locus and systolic blood pressure (p=<0.001). The alpha-adducin gene locus demonstrated strong linkage with systolic blood pressure in normotensive twins, though the 460 Trp mutation was not associated with higher blood pressures.
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