Distribution of C3 phenotypes in North India: a pilot study

Area of Science:

• Genetics
• Population Genetics
• Human Genetics

Background:

• The complement system protein C3 plays a crucial role in innate and adaptive immunity.
• Understanding the genetic variations of C3 is important for population genetics and disease association studies.
• Previous studies have characterized C3 phenotypes and variants in various global populations.

Purpose of the Study:

• To investigate the distribution of commonly occurring and rare C3 variants in a North Indian population.
• To compare the genetic profile of the North Indian population with other global populations based on C3 gene frequencies.

Main Methods:

• Analysis of C3 phenotypes and rare variants.
• Comparison of observed gene frequencies with established databases.

Main Results:

• Characterization of prevalent C3 phenotypes within the North Indian cohort.
• Identification of specific rare C3 variants in the studied population.
• Genetic frequency analysis indicated closer resemblance to Mongol, African, and Afghan populations compared to Caucasian populations.

Conclusions:

• The C3 gene frequency data provides insights into the genetic admixture and historical migration patterns of the North Indian population.
• This study contributes to the understanding of human genetic diversity and the evolutionary history of South Asian populations.