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British Medical Bulletin 69:215-235 (2004)
British Medical Bulletin, Vol. 69 © The British Council 2004; all rights reserved

Human genetic variation and health: new assessment approaches based on ethnogenetic layering

Fatimah LC Jackson

University of Maryland, MD, USA

Correspondence to: Fatimah LC Jackson, Ph.D., University of Maryland, MD, USA

The first 150 words of the full text of this article appear below.


   Introduction
 
Human genetic variation is often biologically relevant, particularly when it influences (or is influenced by) health outcomes. For example, human genetic variation can modulate disease aetiology as in the case of homozygous beta sickle gene (ßS/ßS or sickle cell) pathology. Conversely, health outcomes, such as the frequency and duration of homozygous sickle cell pathology, can change affected group gene frequencies by selectively targeting and culling specific genotypes in a group, such as clinically more severe ßSBantu/ßSBantu versions of the ßS gene, thereby changing future patterns of genetic variation in this gene.

Whereas the above case of the ßS gene is a classic example, identifying the actual role of human genetic variation in health is, in many other cases, often problematic. This is because, in many health-related conditions, it is difficult to discern the precise contribution of genetics to general human biological variability. Genetic variability is only one component of . . . [Full Text of this Article]


   Chapter overview
 

   Origins and maintenance of human biodiversity
 

   Race, human genetic variation, and health
 

   Intra-group genetic variability and health outcomes
 

   HLA variability in populations illustrates the complexity of health
 

   Case studies of specific human genetic variants and health
 
hNP and hGSTO1-1 genes and arsenic metabolism

GST polymorphisms, and lung and squamous cell cancers

CASR-BsaHI, AHSG-SacI, ESR1-PvuIl, ESR1-XbaI, VDR-ApaI and PTH-BstBI polymorphisms, BMD and osteoporosis


   Rationale for new approach
 

   Background on the concept of ethnogenetic layering
 

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