Researchers may have found the missing genetic information associated with being short, published in the American Journal of Human Genetics.

Height a heritable trait is linked to variation of many different genes. "Despite tremendous recent progress in finding common genetic variants associated with height, thus far these variants only explain about 10% of the variation in adult height," said Dr. Joel N Hirschhorn Children's Hospital Boston and senior author of the study.

Dr. Hirschhorn, with co-authors Dr. Yiping Shen and Dr. Andrew Dauber focused on associations of human stature with copy number variants (CNVs), something that has not been done before. A CNV is an excess in genetic material or a deletion of parts of the genome.

Researcher pointed out that although CNV are commonly observed in the human genome, they are rare and occur with low frequency in general human population.

"It has been estimated that about half of height variation could eventually be accounted for by the sorts of variants we've been looking at, so it is possible that other types of genetic variants, such as copy number variants may also contribute to the genetic variation in stature," said Hirschhorn.

Researchers conducted a genome-wide association study in children to find genetic variations. While screening for clinical differences they found an excess of rare deletions in children with short stature.

"We extended our findings to a large population-based cohort, and again observed an excess of low frequency deletions in shorter individuals." The findings were not due to known gene deletion syndromes and no significant associations were observed between CNV and tall stature," said Dr. Shen.

The study results establish a link between low frequency genetic deletions and decreasing height. "Our findings strongly support that hypothesis that increasing burden of lower frequency deletions can lead to shorter stature, and suggest that this phenomenon extends to the general population," concluded Dr. Dauber