Publications by authors named "Ming-Zhan Xue"
Identification of the genetic influences on human essential hypertension and other complex diseases has proved difficult, partly because of genetic heterogeneity. In many complex-trait resources, additional phenotypic data have been collected, allowing comorbid intermediary phenotypes to be used to characterize more genetically homogeneous subsets. The traditional approach to analyzing covariate-defined subsets has typically depended on researchers' previous expectations for definition of a comorbid subset and leads to smaller data sets, with a concomitant attrition in power.
View Article and Find Full Text PDFHuman hypertension arises from a combination of genetic factors and lifestyle influences. With cardiovascular disease set to become the number 1 cause of death worldwide, it is important to understand the etiologic mechanisms for hypertension, because these might provide new routes to improved treatment. The British Genetics of Hypertension Study has recently published a primary genome screen that identified 4 chromosomal regions of interest.
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- The epithelial sodium channel (ENaC) consists of three main subunits—alpha, beta, and gamma—with genetic mutations in beta and gamma linked to hypertension (Liddle syndrome), but the alpha subunit's contribution remains unexplored.
- Researchers screened for mutations in the alpha and beta subunits of ENaC in a study involving 184 individuals from 31 families, using a method called constant denaturant capillary electrophoresis (CDCE) to detect genetic variants efficiently.
- Results revealed multiple genotypes with specific mutations in families, demonstrating that CDCE is an effective tool for rapidly identifying point mutations in genes associated with hypertension.