Cystic Fibrosis in Caucasians


The relationship between race, genetics, and health is very complex. Genetics refers to our human genome, and the blueprint from which humans are made. All people share the same genetic code and have the same genes, however, there are variations within these genes that make us unique from one another. Genes are directly related to health because variations in a gene can make one more or less likely to develop a disease or be prone to mutation. For example, if an individual has one normal copy and one mutated copy of the gene for sickle cell, they are considered heterozygous and will express a resistance to the disease Malaria. However, if an individual is homozygous and receives two mutated copies of the gene, it can cause full symptom sickle cell anemia and be very detrimental to ones health. Race, however, is not as clear-cut. Race is determined by how an individual identifies him or herself and has no biological basis. Often race is determined by skin color but different ethnicities can identify with the same race. Because race is subjectively determined, race is not directly related to health.

Cystic fibrosis (CF) is one of the most commonly inherited genetic disorders among Caucasians. It is caused by the lack of a protein that controls the balance of chloride in the body, and causes the body to produce thick, sticky mucus. This causes recurrent lung infections and breathing difficulties and can also involve problems with reproduction and digestion. Cystic fibrosis is an autosomal recessive condition which means that an individual must have two mutated versions of the CFTR gene, one from each parent. If an individual has no working copies of the gene, they will not be able to make the gene product and cystic fibrosis will develop, with the symptoms ranging from mild to very severe.

Cystic fibrosis does however protect against diseases such as cholera and typhoid, which were common in Europe many years ago. Having the mutation in the CFTR gene offered protection from these diseases and the mutated gene may have been selected for among the Caucasian population. This could maybe explain why cystic fibrosis is most common in Caucasians today.

Cystic Fibrosis Foundation. “About Cystic Fibrosis.” Lat modified in 2014.

This Post Has 1 Comment

  1. Laceey Ruble says:

    In Amber’s explanation of how race, genetics, and health are related there are many great points made that illustrate how complex this relationship is. In my explanation I did not place much emphasis on how directly related our genetic code is to our health. I think that is an important aspect to discuss because we are all made up of genes, and the genes that we inherit have direct consequences on how our lives play out. However, this is one of the reasons why I disagree with that idea that race is not directly related to health. I agree that race is subjective and socially constructed. However, just because race does not have a biological basis does not mean it cannot have a direct impact on someone’s health. For example, in the case study When the Bough Breaks how race and racism impact fetal health is discussed. Due to increased stress on the mother from racism, the child is at an increased risk of being born prematurely or with a low birth weight. The mother and the child directly experience decreased heath due to socially constructed race. For reasons like this, I think racial categories are important factors to address in clinical studies. When addressed properly, one can see how race plays a role in people’s environment and can have obvious effects on health. In the article How Race Becomes Biology: Embodiment of social Inequality, Gravlee discusses how the cultural construction of race has biological consequences. From reading this article, one can see how race is related to phenotypic traits and how those traits are interpreted culturally. Social classification, such as race, is associated with “the cultural significance of skin color.” In a study Gravlee conducted, racialized health was considered with Puerto Ricans. Gravlee found that “self-rated and culturally ascribed color – but not skin pigmentation – were associated with blood pressure through an interaction with income and education.” In summary, I believe racial categories are very important to consider when discussing racialized health disparities because the cultural conception of race has very obvious effects on biological health.

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