Neanderthal-derived g.50318299T>G transversion of the HYAL2 gene is not associated with the predisposition to keloid scarring

Andrzej Dmytrzak, Agnieszka Małyszek, Beata Łoniewska, Andrzej Ciechanowicz


Introduction: Homo neanderthalensis-derived DNA accounts for an estimated 1–4% of the genome in contemporary Eurasian populations. The g.50318299T>G (c.1252A>C, rs35455589) transversion of the HYAL2 gene, encoding type 2 hyaluronidase, is in East Asians ahighly prevalent marker for the Neanderthal-introgressed haplotype at chromosome 3p21.31. The HYAL2 transversion is in strong linkage disequilibrium with rs11130248 (g.50314769A>G), which predisposes to keloid scarring in the Japanese population. This therefore raises the questions of whether the g.50318299T>G HYAL2 transversion is present in contemporary Poles and whether it predisposes to keloids in our population.

Materials and methods: The g.50318299T>G HYAL2 transversion was identified by sequencing genomic DNA samples isolated 

from the umbilical blood of 200 full-term, healthy newborns and from the peripheral blood of 62 adults with keloids.

Results: There were 2 TG heterozygotes (1%) and 198 wild-type TT homozygotes (99%) in the newborn group. Only TT homozygotes were found in the adult group with keloids. The HYAL2 genotype distribution conformed to the expected Hardy–Weinberg equilibrium.

Conclusions: Neanderthal-derived g.50318299T>G HYAL2 transversion rarely presents in the genome of contemporary Poles and is not associated with the predisposition to keloids in this population.


Homo neanderthalensis; genetic polymorphism; hyaluronidase; keloid

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