Solution-What causes alpha-1 antitrypsin deficiency | Homework Help

Gene-Environment Interactions According to Hunter (2005), the focus of gene-environment studies is to better understand and describe the influences of the environment on genetics. These influences become important when human disease, environment, and genes have an undefined correlation. When studying and interpreting gene-environment interactions, the researcher may choose to uses a combination of variables that may include, but are not limited to: genotyping technology, sample size, and study design (Hunter, 2005). For example, if 2 of 5 household family members are diagnosed with the same disorder, gene-environment interaction may be considered as the source of pathology. Genetic Studies Genetic studies are of worldwide concern in that the International Hap Map Project consists of collaborative research from scientist and organization in six countries, including the United States of America. The consortium’s focus primarily consists of studying human genetic variation from different quadrants of the world. Findings from these studies have been placed into databases assessable to the public.

One of the more interesting theories is that of race in that researchers were able to refute claims of genetic differences amongst race; however they did come to a consensus on there being geographic haplotype consistency amongst distinct populations.Current genetic data also refute the notion that races are genetically distinct human populations (Grigorenko, 2005). There is currently lacking evidence that all peoples identifying as black have a certain gene that is associated with people of color, or from a certain continent. We can only assume that there are certain genetic traits that are associated with people of color, in this case, a high prevelance sickle cell trait is common amongst people from the continent of Africa. We can further associate that there may be a gen-environment interaction with African Americans and cardiovascular disease and, or hypertension. The environmental interaction may come as a source of nutritional intake, or stress (Gillum, Madans, & Mussolino, 1998). Gene Environment Interactions Public Health Relevance The impact of environmental influences on genes is a very relevant Public Health issue. Some environmental influences such as air pollutants, chemicals, and pet dandruff can be avoided, where as other’s such as temperature extremes, molecular consistency in drinking water, and family household size would be considered for modification, or optional. Contrary to negative connation associated with gene-environment interaction, there are some observed protective factors that are the product of gene-environment interaction. One in example in particular is the lack of symptoms in some patient with Alpha-1 antitrypsin (AAT) deficiency.

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This deficiency contributes to both morbidity and mortality in children. When inherited, the AAT proteins get stuck in the liver and fail to go to organs that need them to fight diseases (National Institutes of Health (2011).

Reference Gillum, R. F., Madans, J. H., & Mussolino, M. E. (1998). Coronary heart disease risk factors and attributable risks in african-american women and men: NHANES I epidemiologic follow-up study.

American Journal of Public Health, 88(6), 913-7.

What Causes Alpha-1 Antitrypsin Deficiency?


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