New research suggests the risk of Mendelian diseases in consanguinity populations

A new study co-led by Assistant Professor Zeynep Coban-Akdemir, PhD, at UTHealth Houston School of Public Health and researchers from Baylor College of Medicine uncovered a link between occurrences of complex genetic disorders and inherited disease traits in a Turkish population with increased levels of consanguinity, a term referencing the theory of clan genomics, or, coming from the same ancestors.  

The findings were published in Genetics in Medicine OPEN this spring. 

In a study that spans over a decade, researchers examined the genetics of 1,400 volunteers, half suspected to be consanguinity and the latter unaffected as a control group. The population studied was a cohort of individuals originating from Turkey known to have different variations in genetic markers compared to other populations from greater Europe.  
Coban-Akedemir, in the Department of Epidemiology, studied the interaction of inherited DNA and the possible increase of Mendelian (inherited) diseases in this Turkish community.  

Researchers found rare variants on newly configured haplotypes, indicating shared ancestry, which contributed significantly to disease traits appearing in the DNA of the studied populations. 

“We observed that the areas on the chromosome known as ROH, regions of homozygosity, were longer in those individuals in which there was a higher degree of parental consanguinity when compared to those with less,” said Coban-Akedemir. “We can see what is happening when consanguinity is at play, and new genetic variations are introduced into the family unit of the clan or tribe representing more distant ancestors.” 

The results from this study are essential to future genetic discoveries because they reveal how genes act within different populations and clans to contribute to different recessive genetic disorders. This insight from the study confirms clan genomics theory, which suggests recent DNA mutations increase the risk of developing Mendelian diseases.

 
This article was adapted from an original article by Baylor College of Medicine.