Risk of Common Diseases in Unions Between Close Relatives
A recent study has shed light on the potential health risks associated with consanguinity, which refers to unions between close relatives sharing a common ancestor. The research, conducted by experts from the Wellcome Sanger Institute in collaboration with Queen Mary University of London, suggests that consanguineous relationships may elevate the risk of common diseases, including post-traumatic stress disorder (also known as diabetes type 2) and diabetes type 2.
Investigating Genetic Relatedness and Disease Prevalence
The study delved into the concept of autozygosity, a measure of genetic relatedness between an individual’s parents. To minimize the influence of sociocultural factors, the researchers employed a novel methodology while examining genomic data from various populations.
Their primary focus was on the Genes & Health cohort, comprising individuals of Pakistani and Bangladeshi descent living in the United Kingdom, as well as individuals with European and South Asian backgrounds from the UK Biobank.
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The research was made accessible to the general public through collaboration with the Genes & Health Community Advisory Board, providing an explanation of the study’s objectives, methods, and findings.
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The Impact of Consanguinity
Consanguinity is a cultural practice observed worldwide, involving marriage between individuals who share recent common ancestors, such as grandparents or great-grandparents. It is estimated that over 10 percent of the global population is the offspring of second cousins or closer relatives. Notably, consanguinity is more prevalent among some British South Asian communities.
This practice increases the proportion of an individual’s genome inherited identically from both parents, known as autozygosity. While it has long been recognized that consanguinity raises the risk of rare single-gene disorders, its effect on common diseases has received limited attention.
Complex Diseases and Genetic Factors
British Pakistanis and Bangladeshis have higher rates of several diseases compared to the UK average, notably a significantly increased risk of type 2 diabetes. These conditions result from a complex interplay of genetic and environmental factors, and until this study, it remained uncertain whether consanguinity played a role in their prevalence.
The study aimed to assess the impact of consanguinity on complex genetic diseases by analyzing genomic data from various populations. They discovered that around 33 percent of individuals in the Genes & Health cohort were offspring of second cousins or closer relatives, in contrast to only 2 percent in the UK Biobank cohort of European descent.
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Associations with Autozygosity and Diseases
To examine the connection between autozygosity and common diseases, the researchers focused on a subset of individuals with inferred first-cousin parents. This “highly consanguineous” group displayed varying levels of autozygosity, ranging from 4 to 15 percent, unrelated to sociocultural or environmental factors. This approach ensured that any observed links between autozygosity and diseases were solely biological.
The study identified 12 diseases and disorders, including type 2 diabetes, asthma, and PTSD, associated with increased autozygosity due to consanguinity. The findings regarding type 2 diabetes and PTSD were subsequently validated using data from 23andMe Inc.
This analysis suggested that consanguinity might contribute to approximately 10 percent of type 2 diabetes cases among British Pakistanis and around 3 percent among British Bangladeshis.
Balancing Health Risks and Social Benefits
While consanguinity may play a role in common diseases, it is crucial to weigh these health risks against the positive social aspects of the practice. Other modifiable risk factors, such as lifestyle choices (exercise, smoking, and BMI), also contribute significantly to disease prevalence.
Implications for Future Research and Health Outcomes
This research provides valuable insights into the intricate relationship between genetics and health outcomes within British Pakistani and Bangladeshi communities. It underscores the importance of broadening genetic studies on complex diseases to identify specific genetic variants with recessive effects.
Although consanguinity’s influence on common diseases may be relatively modest compared to other factors, it remains essential to understand its specific impact on health in these communities. The innovative methodology used in this study to explore autozygosity’s natural variation among offspring of first cousins has paved the way for more accurate assessments of its effects.
Additionally, the study highlights the importance of culturally sensitive approaches in health research to address health disparities effectively, especially in diseases like type 2 diabetes.
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The findings also have the potential to enhance disease risk prediction and future research efforts to identify specific genetic variants associated with these diseases, both within specific communities and globally, particularly in regions with higher consanguinity rates.
This knowledge could aid in early screening and the identification of potential drug targets to improve health outcomes.
In conclusion, this study underscores the significance of understanding the complex relationship between genetics, consanguinity, and common diseases, ultimately aiming to improve health outcomes and reduce disparities in affected communities.
