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Following the Dynamics of Structural Variants in Experimentally Evolved Populations
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Inbreeding and deleterious variation in South Asian populations.

Jeffrey D Wall1, Murillo F Rodrigues2

  • 1Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, 97006, USA. walljef@ohsu.edu.

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Summary

Consanguinity, or inbreeding, increases mortality and disease risk, particularly in South Asia. This study quanties inbreeding levels and genetic costs in various populations, revealing higher mutation burdens in isolated groups.

Keywords:
ConsanguinityDeleterious variationHuman geneticsSouth asia

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Area of Science:

  • Genetics
  • Population Genetics
  • Human Evolution

Background:

  • Consanguinity, the offspring of related individuals, is linked to increased mortality and disease.
  • Over a billion people reside in areas where consanguineous marriages are prevalent, correlating with high rates of rare recessive diseases.
  • Existing methods for estimating inbreeding have limitations.

Purpose of the Study:

  • To estimate the degree of inbreeding across diverse populations, primarily from South Asia.
  • To identify shortcomings in current inbreeding estimation techniques.
  • To quantify the genetic cost of inbreeding by analyzing deleterious mutations.

Main Methods:

  • Analysis of consanguinity proportions in various ethnic and national groups, with a focus on South Asia.
  • Comparison of inbreeding levels between different countries and subgroups.
  • Identification of isolated populations with reduced effective population sizes.
  • Quantification of deleterious mutations within runs of homozygosity (ROH) in inbred individuals.

Main Results:

  • Consanguinity rates varied significantly, from 9.3% in Bangladesh to 42.8% in Pakistan (medical cohorts) and 0-100% in Indian Adivasi groups.
  • Subgroups in India exhibited higher consanguinity than counterparts elsewhere.
  • Isolated populations showed increased inbreeding and reduced effective population sizes.
  • Deleterious mutation density was higher in long ROH, supporting purifying selection models.
  • Reduced efficacy of purifying selection was observed in small, isolated populations.

Conclusions:

  • Inbreeding is a significant factor influencing health and genetic diversity in various global populations, especially in South Asia.
  • The study provides a refined estimation of inbreeding and its genetic consequences.
  • Findings underscore the impact of population size and isolation on genetic health and evolutionary processes.