A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

Article Abstract:

Genotyping studies are conducted to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. The studies demonstrate that variation in the OCA2 gene 5' region explains most human eye-color variation and polymorphism of gene-regulatory regions is one of the major contributors to phenotypic variation between and within human populations.

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A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A (ital): a maximum-likelihood combined linkage and association analysis in twins and their sibs

Article Abstract:

A major quantitative-trait locus for mole density linked to the familial melanoma gene CDKN2A (ital) is discussed with information about a maximum-likelihood combined linkage and association analysis in twins and their siblings. Raised and flat nevi appear to have very differnt etiologies based on the findings of the study with total heritability higher for raised than for flat moles.

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Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples

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A genomewide linkage screen of simple heavy-smoking quantitative trait is conducted using two independent samples. The study found significant evidence of linkage to chromosome 20 in the Finnish sample.

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