Worldwide variation of the COL14A1 gene is shaped by genetic drift rather than selective pressure.

Background: The aim of this study is to analyze the worldwide distribution of SNP rs4870723 in COL14A1 gene to check if there are significant genetic differences among different populations and to test if the gene is a trait under selection.

Methods: Genomic DNA was extracted from 69 unrelated individuals from Sardinia and genotyped for SNP rs4870723. Data were compared with 26 different populations, clustered in 5 super-populations, from the public 1000 genomes database. Allele frequency and heterozygosity were calculated with Genepop. The Hardy-Weinberg equilibrium and pairwise population differentiation through analysis of molecular variance (AMOVA FST) were determined with Arlequin.

Results: Allele frequencies of COL14A1 rs4870723 were compared in 27 populations clustered in 5 super-populations. All populations were in the Hardy-Weinberg equilibrium. In almost all populations, allele C was the most frequent allele, reaching the highest values in East Asia. The 27 populations showed an appreciable structure, with significant differences observed between European, African, and Asian populations.

Conclusion: Significant differences were observed in the rs4870723 SNP distribution among the populations studied. However, we found no evidence for a selective pressure. Rather, the differentiation among the populations is likely the result of founder effect, genetic drift, and cultural factors, all events known to establish and maintain genetic diversity between populations.