The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
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
Citations
Cites
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“1 was used for haplotype reconstruction (Stephens et al., 2001).”
InfluentialThe validity and practicality of sun-reactive skin types I through VI
Fitzpatrick, T. B. (1988) · Archives of Dermatology · doi:10.1001/archderm.1988.01670060015008 · Cited by 4,339 · cited 1×
“Skin phototype was assessed according to the Fitzpatrick scale: i.e. skin type I: always burns, never tans; type II: always burns, then tans; type III: always tans, burns sometimes; type IV: always tans, never burns (Fitzpatrick, 1988).”
MethodPanova, M., Hollander, J., & Johannesson, K. (2006) · Molecular Ecology · doi:10.1111/j.1365-294x.2006.03067.x · Cited by 2,466
Ritchie, M. D., Hahn, L. W., Roodi, N., Bailey, L., Dupont, W. D., Parl, F. F., & Moore, J. H. (2001) · The American Journal of Human Genetics · doi:10.1086/321276 · Cited by 1,899 · cited 1×
“Ritchie et al. (2001) have shown that their multifactor dimensionality reduction (MDR) method, which is nonparametric and does not assume any genetic model of inheritance, can be a more effective tool for detection of gene–gene interactions.”
MethodHahn, L. W., Ritchie, M. D., & Moore, J. H. (2003) · Bioinformatics · doi:10.1093/bioinformatics/btf869 · Cited by 1,134 · cited 3×
“1.2) (Hahn et al., 2003) and logistic regression analysis.”
MethodInfluentialEpistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans
Cordell, H. J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.20.2463 · Cited by 1,105 · cited 1×
“In statistical terms, epistasis can be described as a deviation from an additive model explaining a connection between various gene variants and a particular complex trait (Cordell, 2002; Moore, 2003).”
BackgroundEpistasis: too often neglected in complex trait studies?
Carlborg, Ö., & Haley, C. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1407 · Cited by 946 · cited 2×
“The first evidence based on direct experimental genetic methods supporting this idea was shown recently by Eiberg et al. (2008). These results indicated that the conservative sequence in the intron 86 may indeed act as a transcriptional silencer.”
BackgroundGenetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · cited 4×
“Other authors have also suggested epistatic effects affecting the human pigmentation phenotype (Pastorino et al., 2004; Sulem et al., 2007).”
BackgroundInfluentialThe Ubiquitous Nature of Epistasis in Determining Susceptibility to Common Human Diseases
Moore, J. H. (2003) · Human Heredity · doi:10.1159/000073735 · Cited by 715 · cited 3×
“Gene–gene interactions have for a long time been postulated to make an important contribution to the determination of human complex traits (Moore, 2003; Carlborg & Haley, 2004).”
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Cited by
Sorted by citations
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing
Keller, A., Graefen, A., Ball, M., Matzas, M., Boisguerin, V., Maixner, F., Leidinger, P., Backes, C., Khairat, R., Forster, M., et al. (2012) · Nature Communications · doi:10.1038/ncomms1701 · Cited by 437
Kayser, M. (2015) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2015.02.003 · Cited by 475
“Such interaction between SNPs from the same and/or different pigmentation genes has been found already, particularly for eye color [32,33,43,44].”
BackgroundVisser, M., Kayser, M., & Palstra, R.-J. T. S. (2012) · Genome Research · doi:10.1101/gr.128652.111 · Cited by 278
“The SNP rs12913832 is highly associated with human eye (Eiberg et al. 2008; Sturm et al. 2008; Liu et al. 2009, 2010), hair (Han et al. 2008; Branicki et al. 2009, 2011), and skin (Branicki et al. 2009; Valenzuela et al. 2010; Spichenok et al. 2011) color variation.”
BackgroundWilde, S., Timpson, A., Kirsanow, K., Kaiser, E., Kayser, M., Unterländer, M., Hollfelder, N., Potekhina, I. D., Schier, W., Thomas, M. G., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1316513111 · Cited by 257
“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).”
BackgroundInfluentialGenetics of human iris colour and patterns
Sturm, R. A., & Larsson, M. (2009) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2009.00606.x · Cited by 239
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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