A score represents the additive effect of multiple genetic variants and is likely to account for a larger proportion of variance in the trait of interest than single genetic variants. Total mole count was derived as the sum of the number of moles present on arms and legs. Additionally, we aimed to examine the influence of pigmentation on personal behaviour towards sunlight exposure and whether this affects 25 OH D levels. A number of studies have shown an association between skin lightness and hydroxyvitamin D 25 OH D levels [ 6 - 10 ], most of them comparing individuals from different ethnicities. As a result, it is possible to combine polymorphisms from these genes to create genetic scores that are strongly associated with pigmentation traits, such as skin colour, tanning potential and freckling [ 19 ].
A score represents the additive effect of multiple genetic variants and is likely to account for a larger proportion of variance in the trait of interest than single genetic variants. These scores have been used before in a study of pigmentation characteristics, vitamin D and prostate cancer in British men [ 19 ]. Extensive data have been collected from the mothers and their offspring from pregnancy onwards by questionnaire, abstraction from medical notes, record linkage and by attendance at research clinics. Dosages for each SNP range from 0 when no risk alleles are present to 2 when the child carries two risk alleles. Table S1 shows measured variables, time points at which they were collected and numbers of individuals available for each time point. A questionnaire was sent in advance asking for the presence of large and small moles, as measured by a plastic guide, to be indicated on arms and legs. In this study we aimed to determine the validity of the evolutionary hypothesis linking lighter skin with higher vitamin D concentrations in a European population. Abstract Background It has been hypothesised that light skin pigmentation has arisen to ensure adequate levels of vitamin D as human populations moved out of Africa and into higher latitudes. Vitamin D synthesis is highly dependent on the concentration of melanin in the skin as melanin absorbs and scatters UVR-B, resulting in a less efficient conversion of 7-dehydrocholesterol to previtamin D3[ 3 ]. Other factors that reduce the cutaneous photosynthesis of vitamin D are clothing and increasing age [ 3 ]. Several genes underlying human skin pigmentation and sun sensitivity have been identified through candidate and genome-wide association studies GWAS [ 14 - 18 ]. The potential of UVR to be beneficial for some health outcomes but detrimental for others has prompted a public health debate on how to balance the positive and negative consequences of sun exposure. Because solar radiation constitutes the main source of vitamin D, but is also a risk factor for sunburn and skin carcinogenesis [ 12 ], achieving a balance between generating enough vitamin D while limiting the damage to the skin has become an important area of debate in public health see for instance, [ 13 ]. A number of studies have shown an association between skin lightness and hydroxyvitamin D 25 OH D levels [ 6 - 10 ], most of them comparing individuals from different ethnicities. Among these are protection against light-induced folate deficiency, protection from cold injury, prevention of heat load, camouflage and resistance against infectious disease [ 2 ]. This is especially important at higher latitudes where the incidence and duration of sunlight is reduced. The reflectance of a yellow melamine surface was then measured and recorded each day. The use of genetic scores instead of self- or interviewer-assessed pigmentation helps to avoid problems of measurement error and possible confounding. Greater sun exposure, on the other hand, is a well-known cause of skin cancer. This article has been cited by other articles in PMC. The resulting raw genome-wide data were subjected to standard quality control methods. Additionally, we aimed to examine the influence of pigmentation on personal behaviour towards sunlight exposure and whether this affects 25 OH D levels. Additionally, we aimed to examine the influence of pigmentation on personal behaviour towards sunlight exposure and the effects of this behaviour on vitamin D. In brief, pregnant women living around Bristol, South West England, who had an expected date of delivery between April and December were eligible, and of these 14, were enrolled in the study. As a result, it is possible to combine polymorphisms from these genes to create genetic scores that are strongly associated with pigmentation traits, such as skin colour, tanning potential and freckling [ 19 ]. Table 1 Skin colour, tanning and freckling genetic scores Skin colour score. Our findings require further replication as skin pigmentation showed only a small effect on circulating 25 OH D.
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