The practice of endogamy is found to be the primary cause for population-specific diseases in India as per a recent study led by the scientist of CSIR- Centre for Cellular and Molecular Biology (CCMB).

Key Highlights of the Study

• Published In: The findings have been recently published in the Journal of Genetics and Genomics
• Method: The ‘1000 Genome’ Dataset was used to collect 281 high-coverage whole exome sequences from four anthropologically distinct populations characterised by high inflammatory bowel disease scores
  • Communities: Kalinga and Reddy of Andhra Pradesh, Yadav of Puducherry and Kallar of Tamil Nadu.
• Parameters: Key factors examined for the study are, the extent of inbreeding and novel genetic variants in populations and the pharmacogenomic markers that influence drug metabolism to understand why different drugs seem to work differently in different populations.
• Findings: 
  • Impact of Endogamy: The study forecasted the impact of endogamy in causing population-specific genetic diseases and drug responses.
  • Inbreeding: The genes of South Indian populations suggest a high inbreeding rate of nearly 60 percent. 
  • Widespread Prevalence of ‘Ankylosing Spondylitis’: It is a type of arthritis that causes inflammation in the joints and ligaments of the spine has been identified to be linked to the ‘HLA-B27:04 risk allele’, a genetic variant that increases the likelihood of developing a disease.
    • High incidence of ankylosing spondylitis disease has been found in the Reddy community of Andhra Pradesh
  • A significant number of disease-causing genetic variants, many of which are unique to specific populations are found.  
  • Genetic Variants For Drug Metabolism: The study also uncovered novel genetic variants associated with drug metabolism, with implications for personalized medicine, especially in response to some of the common drugs, such as ‘Tacrolimus’ (an immunosuppressive drug) and ‘Warfarin’ (an anticoagulant drug).
  • Targeted Drug Therapy: An opportunity for developing targeted drugs has been observed as genetic variations in the genes that alter the drug response has been found to differ across populations.
    • Earlier studies have also shown many population-specific hereditary diseases most often associated with novel genetic mutations.
• Significance: 
  • This research emphasizes the need for appropriate genetic screening, counselling and clinical care for the communities that are vulnerable to various health conditions.
  • It shows the importance of the development of more effective diagnostic and therapeutic strategies