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The VNTR in complex disorders: the forgotten polymorphisms? A functional way forward?

¹Faculty of Life Sciences, Michael Smith Building, University of Manchester, Manchester, UK. keeley.brookes@manchester.ac.uk

|March 23, 2013

Summary

Variable Number Tandem Repeats (VNTRs) offer potential insights into complex disorders, despite a research focus on single nucleotide polymorphisms (SNPs). VNTRs may play a functional role in disease aetiology.

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Area of Science:

Genetics and Genomics
Molecular Biology

Background:

Research into the genetic basis of complex disorders has largely focused on single nucleotide polymorphisms (SNPs).
Technological advancements like microarrays enable high-throughput SNP analysis, driving Genome-Wide Association Studies (GWAS).
Variable Number Tandem Repeats (VNTRs), another form of genetic variation, have been relatively overlooked in complex disorder research.

Purpose of the Study:

To highlight the underexplored potential of VNTRs in understanding complex disorders.
To argue for the renewed investigation of VNTRs due to their possible functional properties.

Main Methods:

This is a review article, synthesizing existing research and arguments.
It critically examines the current landscape of genetic variation studies in complex disorders.

Main Results:

SNPs have dominated genetic research, overshadowing other variation types like VNTRs.
VNTRs possess potential functional properties that warrant further investigation for complex disorder aetiology.

Conclusions:

VNTR polymorphism exploration remains a valuable, albeit neglected, avenue for complex disorder research.
The functional attributes of VNTRs suggest they could contribute significantly to disease mechanisms.