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Genetics, Behavior, and Behavior-Genetic Interactions in Health Risk

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Principles and Concepts of Behavioral Medicine

Abstract

The majority of behavioral traits and diseases are influenced by many genes (polygenetic), by some genes that affect more than one trait (pleiotropy), and by epistatic effects (genes interacting to create phenotypic variance). Additionally, epigenetic mechanisms highlight the plasticity of gene expression and proteins produced. Genes may not constitute a vulnerability factor per se but may rather be perceived as a factor of susceptibility – both according to its “negative” meaning (i.e., under specific circumstances, higher risk of developing some disease, or unfavorable behavioral trait) and its “positive” meaning (i.e., being also more sensitive to behavioral change during interventions). The field of behavioral genetics focuses on traits that appear to lie on continuous spectrums. Quantitative genetics (twin, family, and adoption studies) and molecular genetics (linkage analysis, GWAS) suggest some genetic links, but no single gene has been conclusively identified to affect specific disorders or conditions. In addition, environmental influences that interact with genetic determinants may be, themselves, filtered through the individuals’ memory, emotions, and personality.

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Notes

  1. 1.

    The most recent gene definition is conceptualized as follows: “The gene is a union of genomic sequences encoding a coherent set of potentially overlapping functional products” (Gerstein, Bruce, et al., 2007).

  2. 2.

    Even though differences between men and women cannot be attributed solely to biological differences, we will use the term sex throughout this chapter.

  3. 3.

    Androgen sensitivity seems to be overrepresented in female athletes. For a recent discussion on sex verification and performance of athletes, see (Tucker & Collins, 2010).

  4. 4.

    A correlation coefficient of 1.00 means that the same genes influence a trait, while a value of 0.00 indicates absolutely no relationship, i.e., the same trait is influenced by completely different genes in men and women.

  5. 5.

    To assess race/ethnicity, most studies simply ask “What is your race?” Since there is no biological or genetic test (assuming that race is defined by means of biological and genetic differences), participants’ answers are mainly a cultural and subjective construct.

  6. 6.

    The Division for Heart Disease and Stroke Prevention of the Centers of Disease Control and Prevention offers constantly updated maps that document mortality and hospitalization rates including ethnic disparities.

  7. 7.

    This register records all subjects who were arrested due to drunkenness or committing a crime under the influence of alcohol.

  8. 8.

    EPIC (European Prospective Investigation into Cancer and Nutrition) is a well-designed genome-wide epigenetics study and shows a pattern of DNA methylation that was able to distinguish between smokers who developed cancer and those who did not. This might offer the possibility to screen for cancer risk by means of DNA analysis.

  9. 9.

    It should be kept in mind that even when all of these genes are combined, they only account for 2% of the disease state (Speliotes, Willer, et al., 2010).

  10. 10.

    The FTO gene is expressed in the brain, especially in the hypothalamus, which is known to be involved in reward. Subjects who have two copies show a 70% chance of being obese. Variants of this gene have been associated with an altered chosen diet, the total intake of fat and calories, and the release of oxytocin.

  11. 11.

    All of these factors are involved in pathways of energy intake and/or metabolism, with FTO being involved in regulation of cell respiration in adipocytes; MC4 increasing body temperature and suppressing hunger; BDNF being involved in the central processing of satiety/hunger signals; agouti signaling peptide antagonizing melanocortin 4 receptor function, downregulated during acute stress what might result in inadequate behavioral responses as, e.g., binge eating; leptin and the leptin receptor regulating adipose-tissue mass as well as satiety/hunger; and the cholecystokinin A receptor being involved in the regulation of satiety, the release of beta-endorphins and dopamine, and the contraction of smooth muscles in the gallbladder and stomach.

  12. 12.

    This study, published in the high-ranking journal Cell, shows the effects of xenobiotics, environmental toxins, on gene expression levels of human gut microbes.

  13. 13.

    Medical conditions or diseases which cannot be transferred among people and are not infectious in their origin

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Strahler, J., Mueller-Alcazar, A., Nater, U.M. (2018). Genetics, Behavior, and Behavior-Genetic Interactions in Health Risk. In: Fisher, E., et al. Principles and Concepts of Behavioral Medicine. Springer, New York, NY. https://doi.org/10.1007/978-0-387-93826-4_10

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