Solving the mystery of ancestry with SNPs and haplogroups

Single nucleotide polymorphisms (SNPs) are genetic variants whereby one DNA base becomes substituted for another between individuals or populations. These tiny but influential changes play a pivotal role in defining the differences between populations, affecting disease susceptibility, response to medications, and various biological traits. SNPs serve as genetic markers and are widely used in genetic research to understand the genetic basis of complex traits and diseases. With advancements in sequencing technologies, large-scale genome-wide association studies (GWAS) have become possible, enabling scientists to identify associations between specific SNPs and various phenotypic traits.

Haplotypes refer to clusters of SNPs commonly inherited together, whereas haplogroups refer to groups of haplotypes commonly inherited together. Haplogroups are frequently used in evolutionary genetics to elucidate human migration routes based on the ‘Out of Africa’ hypothesis. Notably, the study of mitochondrial and Y-DNA haplogroups has helped shape the phylogenetic tree of the human species along the female line. Haplogroup analysis is also instrumental in forensic genetics and genealogical research. Additionally, haplogroups play a crucial role in population genetics by providing valuable insights into the historical movements of specific populations and even individual families. 

Certain SNPs in some genes are of clinical importance as they may either increase or decrease the likelihood of developing a particular disease. An example of this is that men belonging to haplogroup I have a 50% higher likelihood of developing coronary artery disease1. This predisposition is due to SNPs present in some Y chromosome genes. Cases like these highlight the possibility of personalised medical interventions based on an individual’s haplogroup and therefore, SNPs in their genome. In this case, a treatment plan of exercise, diet, and lifestyle recommendations can be given as preventative measures for men of haplogroup I to mitigate genetic risk factors before they develop the disease.

Written by Malintha Hewa Batage

References:

1. https://www.sciencedirect.com/science/article/pii/S002191501300765X?via%3Dihub

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