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Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype
Open accessAbstract
Summary: Human pigmentation is a polygenic trait which may be shaped by different kinds of gene–gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Our results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. It is also concluded that OCA2 rs1800407 is independently associated with eye colour. Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample.
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“However, although there is strong evidence that the derived HERC2 rs12913832 G allele is recessive (36), it is less clear whether the SLC45A2 and TYR derived alleles are codominant, recessive, or dominant (22, 35).”
From Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y (2014) · cites this paper as [36]
In the citing paper
“The derived allele of another SNP at OCA2, rs1800407, has been associated with green/hazel eyes in Europeans (Branicki et al. 2009).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Branicki et al. 2009
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“However, although there is strong evidence that the derived HERC2 rs12913832 G allele is recessive (36), it is less clear whether the SLC45A2 and TYR derived alleles are codominant, recessive, or dominant (22, 35).”
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“…is in high linkage disequilibrium (R2 ¼ 0.85) with rs12913832, another intronic SNP in HERC2 that has been associated with pigmentation phenotypes (Branicki et al., 2009; Eiberg et al., 2008; Han et al., 2008; Nan et al., 2009b; Sturm et al., 2008) and that modifies expression of OCA2, a nearby…”
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“pigmentation, tanning response and hair color in previous studies [28–30].”
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“Statistical interactions between HERC2 rs12913832 and OCA2 rs1800407 have also been reported to affect human pigmentation [18,95,96], which is consistent with the chromatin folding interaction known today [84].”
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Self-citationGenetic analysis of the presumptive blood from Louis XVI, king of France
Lalueza‐Fox, C., Gigli, E., Bini, C., Calafell, F., Luiselli, D., Pelotti, S., & Pettener, D. (2010) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2010.09.007 · Cited by 14
Genetic variants associated with skin photosensitivity in a southern European population from Spain
Hernando, B., Sanz‐Page, E., Pitarch, G., Mahiques, L., Valcuende, F., & Martínez‐Cadenas, C. (2018) · Photodermatology Photoimmunology & Photomedicine · doi:10.1111/phpp.12412 · Cited by 14
Caliebe, A., Harder, M., Schuett, R., Krawczak, M., Nebel, A., & von Wurmb‐Schwark, N. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.167 · Cited by 14
Association of common genetic variants with human skin color variation in Indian populations
Sarkar, A., & Nandineni, M. R. (2017) · American Journal of Human Biology · doi:10.1002/ajhb.23068 · Cited by 14
Forensic SNP Genotyping with SN aPshot: Development of a Novel In‐house SBE Multiplex SNP Assay,
Zar, M. S., Shahıd, A. A., Shahzad, M. S., Shin, K., Lee, H. Y., Lee, S., Israr, M., Wiegand, P., & Kulstein, G. (2018) · Journal of Forensic Sciences · doi:10.1111/1556-4029.13783 · Cited by 12
Gelmi, M. C., Houtzagers, L. E., Wierenga, A. P. A., Versluis, M., Heijmans, B. T., Luyten, G. P. M., de Knijff, P., Raa, M. T., de Leeuw, R. H., & Jager, M. J. (2024) · Ophthalmology · doi:10.1016/j.ophtha.2024.09.001 · Cited by 11
Rahat, M. A., Akbar, F., Rasool, A., Ilyas, M., Rakha, A., Shams, S., Jelani, M., Bibi, F., Shirah, B., Abdulkareem, A., et al. (2023) · Biomedicines · doi:10.3390/biomedicines11041228 · Cited by 6
“Thus, climate might have a role in eye pigmentation due to the differential expression of the genes responsible for eye colour [60].”
BackgroundPoetsch, M., Blöhm, R., Harder, M., Inoue, H., von Wurmb‐Schwark, N., & Freitag‐Wolf, S. (2012) · International Journal of Legal Medicine · doi:10.1007/s00414-012-0728-0 · Cited by 11
“In recent years, the prediction of externally visible characteristics has been an important research field in forensic genetics in which much progress has been accomplished [1-11].”
BackgroundDissecting dynamics and differences of selective pressures in the evolution of human pigmentation
Huang, X., Wang, S., Li, J., & He, Y. (2021) · Biology Open · doi:10.1242/bio.056523 · Cited by 12
“We also selected 52 SNPs in 19 genes for analysis due to their association with human pigmentation in published genome-wide association studies (GWAS) or phenotype prediction models (Table S3; Rebbeck et al., 2002; Bonilla et al., 2005; Graf et al., 2005; Lamason et al., 2005; Stokowki et al., 2007; Miller et al., 200…”
MethodPoetsch, M., Wiegand, A., Harder, M., Blöhm, R., Rakotomavo, N., Freitag‐Wolf, S., & von Wurmb‐Schwark, N. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.51 · Cited by 10
Gender and eye colour prediction discrepancies: A reply to criticisms
Martínez‐Cadenas, C., Peña-Chilet, M., Llorca-Cardeñosa, M. J., Cervera, R., Ibarrola‐Villava, M., & Ribas, G. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2013.10.002 · Cited by 10
The Genetics and Evolution of Human Pigmentation
Guermazi, D., & Saliba, E. (2025) · Biology · doi:10.3390/biology14081026 · Cited by 10
“Key pigmentation genes such as MC1R, SLC24A5, TYR, and OCA2 illustrate how different allelic variants confer adaptive advantages depending on geographical UV exposure [49,50].”
Wang, X., Pedersen, C. T., Athanasiadis, G. I., Garcia‐Erill, G., Hanghøj, K., Bertola, L. D., Rasmussen, M. S., Schubert, M., Liu, X., Li, Z., et al. (2024) · Systematic Biology · doi:10.1093/sysbio/syae037 · Cited by 8
“…the genes OCA2 and HERC2 , which has been linked with hair and skin color polymorphism in many animals, including humans (Frudakis et al. 2007; Branicki et al. 2009; Pavan and Sturm 2019), medaka (Fukamachi et al. 2004), the Mexican cave tetra (Protas et al. 2006), and zebrafish (Beirl et al.…”
Balaresque, P. L., & King, T. E. (2016) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2016.02.001 · Cited by 9
Study on the Correlation Between Iris Characteristics and Schizophrenia
Tian, C., Duan, L., Fu, C., He, J., Dai, J., & Zhu, G. (2022) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s361614 · Cited by 8
Zhang, X., Qi, Y., Pang, Y., Yuan, B., & Li, X. (2023) · The Journal of Poultry Science · doi:10.2141/jpsa.2023013 · Cited by 7
“Feather and eye color are polygenic traits influenced by a number of multi-gene interactions (Branicki et al , 2009).”
InfluentialEye color prediction using the IrisPlex system: a limited pilot study in the Iraqi population
Al-Rashedi, N. A. M., Mandal, A. M., & AlObaidi, L. A. H. (2020) · Egyptian Journal of Forensic Sciences · doi:10.1186/s41935-020-00200-8 · Cited by 7
Genetic examination of the putative skull of Jan Kochanowski reveals its female sex
Kupiec, T., & Branicki, W. (2011) · Croatian Medical Journal · doi:10.3325/cmj.2011.52.403 · Cited by 6
Self-citationKane, E. V., Painter, D., Roman, E., Allan, J. M., Law, G. R., & Lightfoot, T. J. (2010) · Cancer Epidemiology · doi:10.1016/j.canep.2010.01.005 · Cited by 6
Predicting target genes of non-coding regulatory variants with IRT
Wu, Z., Ioannidis, N. M., & Zou, J. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btaa254 · Cited by 6
Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives
Sessa, F., Dervišević, E., Esposito, M., Francaviglia, M., Chisari, M. G., Pomara, C., & Salerno, M. (2026) · Genes · doi:10.3390/genes17010059 · Cited by 7
“When MC1R function is disrupted by specific genetic variants, the balance shifts toward pheomelanin, leading to the characteristic red or auburn hair tones [73–75].”
Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins
Sanfilippo, P. G., Wilkinson, C. H., Ruddle, J. B., Zhu, G., Martin, N. G., Hewitt, A. W., & Mackey, D. A. (2014) · Clinical and Experimental Optometry · doi:10.1111/cxo.12209 · Cited by 5
“In addition, research has shown that gene-gene interactions contribute to the variability of pigmentation in humans; for example, the HERC2 gene located upstream of OCA2 being associated not only with eye colour but also hair colour and skin type.(17)”
BackgroundFlores-López, B. A., López-Ceballos, A. G., López-Aguilar, C., Rico-Méndez, M. A., Acosta-Ramírez, K., Cano-Ravell, A., Gembe-Olivarez, G., López-Quintero, A., Aguilar-Velázquez, J., Ramírez-de-Arellano-Sánchez, J. A., et al. (2025) · Genes · doi:10.3390/genes16101227 · Cited by 4
“Similarly, SLC45A2 and TYR affect melanin production and melanosomal activity, while HERC2 , particularly the SNV rs12913832, regulates OCA2 expression through long-range enhancer interactions, influencing eye and skin color [25,28].”
InfluentialDemars, J., Labrune, Y., Iannuccelli, N., Deshayes, A., Leroux, S., Gilbert, H., Aymard, P., Benitez, F., & Riquet, J. (2022) · Genomics · doi:10.1016/j.ygeno.2022.110361 · Cited by 4
Rivera‐Paredez, B., Hidalgo‐Bravo, A., López-Montoya, P., Becerra‐Cervera, A., Patiño, N., Denova‐Gutiérrez, E., Salmerón, J., & Velázquez‐Cruz, R. (2024) · Scientific Reports · doi:10.1038/s41598-024-68437-0 · Cited by 4
“Further investigation with larger cohorts may help elucidate the relationship between the GRS and VDD. Gene–gene interactions have for a long time been postulated to make an important contribution to the determination of human complex traits 42 .”
BackgroundIs Eye Color Related to Dental Injection Pain? A Prospective, Randomized, Single-blind Study
Hyde, J., Fowler, S., Drum, M., Reader, A., Nusstein, J., & Beck, M. (2018) · Journal of Endodontics · doi:10.1016/j.joen.2018.01.009 · Cited by 4
“Although there are about 16 genes that are known to influence eye color, 2 main genes have a major responsibility in the process, primarily 2 genes that are located on chromosome 15: HERC2 and OCA2 (oculocutaneous albinism II) (29).”
BackgroundLópez, S., García, I., Zubiaga, I. S., Sevilla, A., Izagirre, N., Vaca, C. D. L. R., & Alonso, S. (2014) · Annals of Human Biology · doi:10.3109/03014460.2014.965202 · Cited by 3
“, 2005), interactions between MC1R and HERC2 (Branicki et al., 2009), IRF4 and SLC24A4 (Han et al.”
BackgroundPrediction of Human Pigmentation Traits from DNA Polymorphisms
Branicki, W., & Kayser, M. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0023851 · Cited by 4
Self-citationDissecting dynamics and differences of selective pressures in the evolution of human pigmentationPreprint
Huang, X., He, Y., Wang, S., & Li, J. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/253963 · Cited by 3
Ganguly, K., Sengupta, D., Sarkar, N., Mukherjee, N., Dutta, T., Saha, A., Saha, T., Ghosh, B., Chatterjee, S., Brahmachari, P., et al. (2022) · Proceedings of the Zoological Society · doi:10.1007/s12595-022-00449-y · Cited by 2
Abbatangelo, C. L., Lona‐Durazo, F., Edwards, M., & Parra, E. J. (2026) · Scientific Reports · doi:10.1038/s41598-026-44580-8 · Cited by 3
“Two SNPs on chromosome 15, rs1800407 and rs4778138, both situated in or near the OCA2 gene, have been linked to variation in eye colour in earlier research 52–54 .”
Forensic Ancestry and Phenotype SNP Analysis and Integration with Established Forensic Markers
Gettings, K. B. (2013) · ProQuest Demo Repository · Cited by 1
Rojek, A., & Niedziela, M. (2013) · Archives of Medical Science · doi:10.5114/aoms.2012.32791 · Cited by 1
“showed that HERC2 rs12913832 may be one of the genes responsible for masking the effect of MC1R polymorphisms and significantly affect the function of the MC1R receptor [8].”
BackgroundAbbatangelo, C., Durazo, F. L., Edwards, M., & Parra, E. J. (2025) · bioRxiv · doi:10.1101/2025.07.20.665796 · Cited by 2
Low, D. (2012) · doi:10.32657/10356/48088
“This interaction is presumed to be influencing human pigmentation (148).”
Background
Metadata
- Authors
- Branicki, W., Brudnik, U., & Wojas‐Pelc, A.
- Affiliations
- Jagiellonian University (PL)
- Corresponding author
- Branicki, Wojciech
- Venue
- Annals of Human Genetics
- Publisher
- Wiley
- Published
- 2009-02-17
- Volume
- 73
- Issue
- 2
- Pages
- 160-170
- ISSN
- 0003-4800 (ISSN-L)
- 1469-1809
- OpenAlex
- W2037117670
- Cited by
- 108
- References
- 40
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 4 · 2023: 4 · 2022: 4 · 2021: 2 · 2020: 5 · 2019: 4 · 2018: 7 · 2017: 5 · 2016: 4 · 2015: 8 · 2014: 10 · 2013: 11 · 2012: 9
- FWCI
- 4.90
- Type
- journal article
- Language
- en
- Open access
- green
- ruj.uj.edu.pl
- Licence
- Locations
- Annals of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Jagiellonian University Repository (Jagiellonian University) (submittedVersion, cc-by-nc-nd)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- human pigmentation, HERC2, OCA2, MC1R, gene-gene interaction, epistasis, eye color, skin colour, hair color, ASIP, SLC45A2, polygenic traits
- MeSH terms
- Antigens, Neoplasm, Epistasis, Genetic, Eye Color, Female, Hair Color, Humans, Male, Poland, Skin Pigmentation, Logistic Models, Polymorphism, Single Nucleotide, Guanine Nucleotide Exchange Factors, Membrane Transport Proteins, Receptor, Melanocortin, Type 1, Ubiquitin-Protein Ligases, Agouti Signaling Protein
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