Discovery 3 of 10

Are Poles very freckled?

It seems so. We most likely have a much higher chance of having freckles than most other populations. The MAF (minor allele frequency) for the variant of the OCA2 gene, referred to in the literature as rs4778138, correlated with the less frequent occurrence of freckles, is 31% for the general population (GnomAD v3.1.1), but in the Polish population it is estimated at only 16%.

This, of course, is not the only variant that has been correlated with the occurrence of freckles, but its significance seems to be the strongest. Freckles are most common in people with fair or pale skin, and fair or red hair. They appear primarily on the face, but can also appear on other parts of the body, especially those exposed to the sun. It is the sun's rays that intensify the color and the appearance of freckles.

"The Thousand PolishGenomes Project - a national database of Polish variant allele frequencies" is a unique scientific project, the aim of which was to create the first database of genetic variants of Poles and Polish women. The presented results come from this project.

Find out more about the OCA2 gene and the formation of freckles:

P.S. Of course, there exists data that is less extensive than WGS analyzes from other populations, but with a much larger sample size, for example in 23andMe or FTDNA collections. In this project, however, we focused only on data from genome-wide projects. Remember that the The Thousand PolishGenomes project is open to more discoveries by other research groups in the upcoming groups, and the presented results are only the tip of the iceberg.

P.S. Picture from