Familial Hypercholesterolemia: A Tale of Genetic Diversity and Founder Effect

Why is Familial Hypercholesterolemia five times more frequent in the Afrikaner population of South Africa compared to the original European population?

Is this difference a result of genetic factors or environmental influences?

Answer:

This phenomenon demonstrates the Founder Effect.

The Founder Effect is a unique concept in genetics that explains the genetic differences observed in a population that originated from a small group of founders. In the case of the Afrikaner population in South Africa, the higher frequency of Familial Hypercholesterolemia can be attributed to this genetic phenomenon.

When a small group of individuals separates from a larger population and establishes a new community in a different location, they bring with them only a subset of the genetic variations present in the original population. Over time, this isolated group may experience genetic drift and increased prevalence of certain genetic disorders due to the limited gene pool of their founders.

In the case of the Afrikaner population, their ancestors who migrated from Europe to South Africa were a small group with a specific genetic makeup. As they formed a new community in South Africa, the prevalence of Familial Hypercholesterolemia increased due to the genetic bottlenecks and limited diversity introduced by the founders.

This unique genetic makeup and higher frequency of the disorder in the Afrikaner population showcase the Founder Effect in action, highlighting the impact of historical migrations and genetic isolation on the prevalence of genetic disorders in populations.