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Frequency of folate‐related polymorphisms varies by skin pigmentation
Author(s) -
Jones Patrice,
Lucock Mark,
Veysey Martin,
Jablonski Nina,
Chaplin George,
Beckett Emma
Publication year - 2017
Publication title -
american journal of human biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.559
H-Index - 81
eISSN - 1520-6300
pISSN - 1042-0533
DOI - 10.1002/ajhb.23079
Subject(s) - mtrr , phototype , biology , methylenetetrahydrofolate reductase , genetics , genetic association , allele , gene , genome wide association study , genotype , single nucleotide polymorphism , medicine , dermatology
Abstract Objectives Folate‐mediated 1‐carbon transfer processes are vital in human health but are susceptible to independent and interactive influences of genetic variance and environmental exposures. Evidence suggests folate levels may be impacted by genetic variance and environmental UVR, with the effect of UVR levels influenced in part by degree of skin pigmentation. Folate‐related genes are also influenced by UVR levels; however, the potential relationship between key folate‐related genes and skin pigmentation has not yet been explored. The purpose of this study was to examine potential associations between frequencies of key folate variants and degree of skin pigmentation. Methods Association between population prevalence of 17 variants in 9 folate‐related genes ( MTRR, MTR, MTHFR, CBS, SHMT1, MTHFD1, RFC1, BHMT, TYMS ) and the Fitzpatrick skin phototype of populations was assessed via collation of genotypic data from ALFRED (Allele Frequency Database) and 1000 Genomes databases. Results A significant association between variant frequency and Fitzpatrick phototype was observed for 16 of 17 examined variants ( P < .0029 Bonferroni corrected significance threshold in all cases). Conclusions These findings demonstrate novel relationships between skin color and folate‐related genes, with trends suggesting folate genotypes are selected to maintain homeostasis in the folate system under differing UVR conditions.