Molecular genetic study of normal morphological variants

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Various normal variants, such as tongue curling/flat tongue, widow's peak/flat anterior hairline, hand clasping patterns, arm folding patterns, attached/unattached earlobes and single/double-edged eyelids, are studied in 174 adult volunteers. GWAS was then performed between these variants and 440,794 SNPs in the genome. Under an autosomal dominant model, it seemed that only arm-folding-patterns are associated with SNPs in the SPEN gene. However, sequence analysis of all exons of SPEN in 93 individuals with the "right" arm folding and 80 with the "left" arm folding revealed no SNPs or mutations that differentiate the two groups. There were no associations between any variants and SNPs. The results indicated that the variants studied are not determined by any single-genes.