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Link between Consanguinity and Genetic Diseases

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October 11, 2023

Why in news?

Many key insights that are biomedically relevant have been unearthed by looking through the lens of consanguinity.

 What is consanguinity?

  • Consanguinity – It is the practice of marrying close relatives, an age-old tradition that is still practised widely in several human societies.
  • It is the kinship characterized by the sharing of common ancestors.

Kin are of two basic kinds: consanguineous (sharing common ancestors) and affinal (related by marriage).

  • It is a social as well as genetic construct.
    • Social context- Marriage between individuals related by blood.
    • Genetic context (inbreeding)- Marriage between genetically related individuals.
  • Studies have found that a significant fraction of the global population practises consanguinity and that that has increased the mortality and the rate of recessive genetic diseases in these peoples.
  • Global status - There is an evidence that suggest those of the Egyptians and Incas, among others, could have practised inbreeding or consanguinity.
  • Status of India- With more than 4,000 endogamous (groups people marrying within the same caste/tribe or group), India has been a fertile ground for consanguinity.

According to one estimate, approximately 15-20% of the world’s population practises inbreeding, especially in Asia and West Africa.

What are the benefits of consanguinity?

  • Social impact- It leads to
    • Stable marital relationships
    • Improved female autonomy
    • Less domestic violence and lower divorce rates
  • Economic impact- It
    • Reduces the instances of dowry and the preservation of landholdings
    • Reduces the risk of family financial problems
  • Cultural impact- Consanguinity provides opportunities for the transmission of cultural values and cultural continuity
    • Better compatibility with in-laws
    • Ease of marriage arrangements
  • Genetic traits- Consanguinity may cause homozygosity of alleles in offsprings, preserving the advantageous genetic traits in human as well as animal populations.
  • Disease protection- Protection against disease has been postulated because of the selection of protective genotypes or homozygosity of protective alleles.
  • Parental consanguinity seems to protect against breast cancer in the Tunisian population.
  • The protective role of consanguinity against multiple sclerosis has also been reported.
  • Health- Consanguineous families are helpful in the identification of novel disease gene by linkage analysis.

What is the link between consanguinity and diseases?

  • Recessive disease- Many modern consanguineous societies, like the Amish population in the U.S., have been studied for recessive diseases.
  • Autozygosity- Scientist have extensively used autozygosity as an approach to identify new genetic diseases in populations where consanguineous marriage practices is the norm.
  • Disease- The results of these studies have helped us uncover previously unknown genetic diseases as well as estimate different population’s genetic predisposition to common diseases.
    • Recent study suggested that consanguinity could increase the risk and the rate of diseases like type-2 diabetes.
  • Genomic research- Advances in genomic research will provide innovative solutions to mitigate the risks associated with consanguinity or genetic diseases.
  • Genetic diagnostics- The genomic research would result in personalised medicine, genetic diagnostics and genetic counselling that will play a pivotal role in improving the health outcomes of affected individuals and their families.

What lies ahead?

  • Improved family finances, public health awareness, and higher female education can decrease consanguinity rates.
  • Premarital genetic screening should be offered for the most common population-specific genetic disorders.
  • Physicians should be educated on the importance of focusing on consanguinity-associated diseases like hearing loss, thalassemia, cystic fibrosis, intellectual disability, etc.

 

References

  1. The Hindu- Unravelling links between consanguinity and genetic diseases
  2. NIH-National Human Genome Research Institute
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