The Thousand Polish Genomes Project

It’s true, here in Poland, we actually have quite a few blonde people. Our genes prove it! The MAF (minor allele frequency) for the HERC2 gene variant, referred to in the literature as rs1667394, is 61% for the general population (GnomAD v3.1.1), but in the Polish population it is estimated at 86%. This variant significantly increases a person's chance of having blonde hair.

Bad news here, especially for gentlemen. Poles most likely have a slightly higher frequency of male baldness than most male populations from other parts of the world. The MAF (minor allele frequency) for the variant of the androgen receptor gene, referred to in the literature as rs6625163, correlated with the occurrence of male pattern baldness, is 62% for the general population (GnomAD v3.1.1), but in the Polish population it is estimated at 80%. Quite a lot, although this is just one of the many variants that affect baldness.

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%.

That’s right. Each of us has some mutations, technically known as genetic variants, and we have quite a few of them. The most common and abundant are single nucleotide polymorphisms (SNPs), but the genome is also full of small insertions, deletions, duplications, inversions…

Have you ever sneezed after leaving the house on an exceptionally sunny day? It turns out that sneezing "in the sun" even has a name, and of course there is a genetic basis for it. Autosomal-Dominant Compelling Helio-Opthalmic Outburst, or in short: ACHOO.

It turned out that the structure of the Polish population is homogeneous and continuously coincides with the European population. The European subpopulations of GBR (British) and CEU (people of European origin living in the American state of Utah) are closest to the Polish population.

It rather does not result from any alcohol super-genes. There is a common opinion in society that Poles have a high concentration of alcohol dehydrogenase, which is one of the enzymes crucial for the metabolism of alcohol in the body, and therefore they can drink more without feeling any severe effects. However, all indications are that the level of dehydrogenase is an individual feature, not a population one.

It depends with that illness - There are certainly several pathogenic variants, the frequency of which is slightly higher in the Polish population. One of such diseases is Nijmegen syndrome, or Nijmegen breakage syndrome (NBS, also known as Berlin breakage syndrome). It is commonly known that this disease is much more common in people of Slavic origin living in the Czech Republic, Slovakia or Poland, and that the largest number of them live in Poland.

It turns out that the frequency of the variants responsible for the development of the symptoms of the disease in the Polish population is much more frequent than in the general (world) population. Smith-Lemli-Opitz Syndrome (SLOS), also known as congenital 7-dehydrocholesterol reductase deficiency, is characterized by numerous birth defects, as well as intellectual disability and many behavioral problems.

We know from the lessons of statistics that the sample must be large enough to draw statistically significant conclusions. The Thousand PolishGenomes project selected samples from almost 1,300 participants (though many more applied!) from all over the country.Ultimately, however, the analysis was performed on 1083 samples due to the related relationship among some of the respondents.