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Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions.
| Publication Type | Journal Article |
| Authors | Dauber, A., Yu Y., Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y., Wu BL, and Hirschhorn JN |
| Abstract | Height is a model polygenic trait that is highly heritable. Genome-wide association studies have identified hundreds of single-nucleotide polymorphisms associated with stature, but the role of structural variation in determining height is largely unknown. We performed a genome-wide association study of copy-number variation and stature in a clinical cohort of children who had undergone comparative genomic hybridization (CGH) microarray analysis for clinical indications. We found that subjects with short stature had a greater global burden of copy-number variants (CNVs) and a greater average CNV length than did controls (p < 0.002). These associations were present for lower-frequency (<5%) and rare (<1%) deletions, but there were no significant associations seen for duplications. Known gene-deletion syndromes did not account for our findings, and we saw no significant associations with tall stature. We then extended our findings into a population-based cohort and found that, in agreement with the clinical cohort study, an increased burden of lower-frequency deletions was associated with shorter stature (p = 0.015). Our results suggest that in individuals undergoing copy-number analysis for clinical indications, short stature increases the odds that a low-frequency deletion will be found. Additionally, copy-number variation might contribute to genetic variation in stature in the general population. |
| Year of Publication | 2011 |
| Journal | American journal of human genetics |
| Volume | 89 |
| Issue | 6 |
| Pages | 751-9 |
| Date Published (YYYY/MM/DD) | 2011/12/09 |
| ISSN Number | 0002-9297 |
| DOI | 10.1016/j.ajhg.2011.10.014 |
| PubMed | http://www.ncbi.nlm.nih.gov/pubmed/22118881?dopt=Abstract |
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