Founder Variants in the Mexican Population: A Systematic Review

Founder variants (FVs) are genetic alterations inherited from a common ancestor that are frequently observed in genetically homogeneous populations. FVs significantly influence the prevalence of genetic disorders in specific populations; however, these variants have never been comprehensively described for the Mexican population.

This systematic review aimed to summarize and describe FVs of Mexican origin and their association with specific health conditions.

Studies were retrieved from the LILACS, COCHRANE, Scopus, and PubMed databases using a pre-specified search string. Information on genes, variants, and haplotypes that met the inclusion criteria was extracted from the articles. Based on the evidence provided, variants originating in the Mexican population were stratified according to whether they had strong or weak evidence for classification as FVs.

A total of 32 studies were selected, describing 19 genes and 21 FVs. These include variants associated with a variety of diseases, such as Stargardt disease, breast and ovarian cancer, Fanconi anemia, congenital muscular dystrophy, and familial hypercholesterolemia. Haplotype analysis revealed that some variants, although frequent in the Mexican population, appear to be of European origin, as their haplotypes match those found in European populations and may represent variants introduced into Mexican territory following the Spanish conquest in the early 16th century.

These results provide a comprehensive view of the FVs present in the Mexican population, increasing our understanding of the genetic architecture in this region. In addition, they provide a broad context to elucidate potential associations between FVs and clinical, historical, and cultural findings.