Dataset Information

Genetics of eye colours in different rural populations on the Silk Road.

ABSTRACT: Eye colour is a highly transmissible and discernible trait in humans. A genome-wide association scan for variants associated to eye pigmentation was carried out on a large group of individuals coming from the Silk Road. Significant associations were detected not only with HERC2 (P-value=4.99 × 10(-37)) and OCA2 (P-value=4.51 × 10(-9)) genes but also with CTNNA2 gene (P-value=4.06 × 10(-8)). Moreover, the multifactor dimensionality reduction analysis clearly showed the effect of HERC2 haplotype over OCA2 mostly associated with SNP, thus enabling a highly accurate eye-colour prediction. Finally, the regression tree analysis showed that individuals carrying a given combination of haplotypes have a significant probability to show a blue or green/grey iris colour as compared with brown, with a gradient from west to east.

SUBMITTER: Ulivi S

PROVIDER: S-EPMC3798846 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature

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Genetics of eye colours in different rural populations on the Silk Road.

Ulivi Sheila S Mezzavilla Massimo M Gasparini Paolo P

European journal of human genetics : EJHG 20130313 11

Eye colour is a highly transmissible and discernible trait in humans. A genome-wide association scan for variants associated to eye pigmentation was carried out on a large group of individuals coming from the Silk Road. Significant associations were detected not only with HERC2 (P-value=4.99 × 10(-37)) and OCA2 (P-value=4.51 × 10(-9)) genes but also with CTNNA2 gene (P-value=4.06 × 10(-8)). Moreover, the multifactor dimensionality reduction analysis clearly showed the effect of HERC2 haplotype o ...[more]

PMID: 23486544

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Project description:Eye and hair colour is highly variable in the European population, and is largely genetically determined. Both linkage and association studies have previously been used to identify candidate genes underlying this variation. Many of the genes found were previously known as underlying mutant mouse phenotypes or human genetic disease, but others, previously unsuspected as pigmentation genes, have also been discovered.We assayed the hair of a population of individuals of Scottish origin using tristimulus colorimetry, in order to produce a quantitative measure of hair colour. Cluster analysis of this data defined two groups, with overlapping borders, which corresponded to visually assessed dark versus red/light hair colour. The Danish population was assigned into categorical hair colour groups. Both cohorts were also assessed for eye colour. DNA from the Scottish group was genotyped at SNPs in 33 candidate genes, using 384 SNPs identified by HapMap as representatives of each gene. Associations found between SNPs and colorimetric hair data and eye colour categories were replicated in a cohort of the Danish population. The Danish population was also genotyped with SNPs in 4 previously described pigmentation genes. We found replicable associations of hair colour with the KITLG and OCA2 genes. MC1R variation correlated, as expected, with the red dimension of colorimetric hair colour in Scots. The Danish analysis excluded those with red hair, and no associations were found with MC1R in this group, emphasising that MC1R regulates the colour rather than the intensity of pigmentation. A previously unreported association with the HPS3 gene was seen in the Scottish population. However, although this replicated in the smaller cohort of the Danish population, no association was seen when the whole study population was analysed.We have found novel associations with SNPs in known pigmentation genes and colorimetrically assessed hair colour in a Scottish and a Danish population.

Project description:Humanity's demand for ecological resources and services exceeds what earth can regenerate in that year, creating an urgent need for more sustainable behavior. Here, the focus is on a particular factor that so far has been overlooked in facilitating sustainable behavior, namely smell. The two-fold aim of this study was (i) to investigate whether ambient scent could enhance customers' subjective experience and spending behavior in a sustainable environment, and (ii) to elucidate the affective and cognitive pathways from scent to spending. To test this, a double-blind field experiment was designed where customers of a second-hand clothing store (N = 57) could face one of three conditions: fresh linen scent (pleasant and semantically priming "clean clothing" increasing the products' value), vanilla sandalwood scent (pleasant control odor), or regular store odor (odorless control). Buttressed by prior research, the fresh linen scent was expected to cause the strongest increase in spending behavior due to its positive semantic association with the product (i.e., clean clothing). The results indeed showed that fresh linen scent almost doubled consumer spending vs. the odorless control and the pleasant control odor. Other factors potentially affecting consumer behavior (e.g., weekday, weather, odor awareness) were uncorrelated. Whereas a conceptually-driven mediation analysis showed that only fresh linen scent increased mood and evaluations of the store, staff, and products, these variables did not mediate the relation between scent and spending. An explorative structural equation model suggested cognitive priming to be mainly responsible for increasing consumers' spending in the fresh linen condition by enhancing the general store evaluation. Further support is needed to corroborate the indirect findings that specific scents can follow a "cold" semantic road and a "hot" affective road to spending. At minimum, consumers are no "zombies" that empty their pockets in the presence of whatever odor; the smell needs to have a meaningful link to the (sustainable) context at hand to influence consumer behavior.

Dataset Information

Genetics of eye colours in different rural populations on the Silk Road.

Publications

Genetics of eye colours in different rural populations on the Silk Road.

Similar Datasets

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