Open Conference Systems, UCUR 2017

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Unlocking the Key to Height through Shawn Bradley’s SNP Combination
Meganne Nichole Ferrel

Building: Classroom Building
Room: CB 510 & 511 - Poster Sessions
Date: 2017-02-17 12:30 PM – 02:20 PM
Last modified: 2017-02-06

Abstract


Shawn Bradley is an extremely tall former professional basketball player while having no known medical condition. Giantism is a disease that is manifested mainly in the form of abnormal height1,2, however, along with this phenotype, other physical disabilities are present2. Shawn Bradley’s genome has been examined to determine the cause of his phenotype by using the large population study by the GIANT consortium. It has been previously determined that Mr. Bradley’s rare condition is caused by a rare combination of common SNPs (single nucleotide polymorphisms). This was determined using a polygenic risk score, which is a sum of trait-associated alleles across many genetic loci, typically weighted by effect sizes estimated from a genome-wide association study3. The study showed that Mr. Bradley is a significant outlier and suggested that common genetic variants influence his height. We have also identified 10 rare variants that are candidates for additional influence on height. By using the GIANT consortium data, we will locate and analyze 10 rare SNPs that contribute to Mr. Bradley's abnormal height in addition to the common SNPs. To do this, primers would be designed, the PCR would be run in order to amplify the DNA surrounding the significant SNPs, and the results of the PCR would be found on an electrophoresis gel. Once bands are obtained from the electrophoresis gel, the PCR product would be cleaned and a sequencing reaction would be run, cleaned, and submitted to the sequencing center. The DNA sequence would be annotated to determine the integrity of the sequence as well as the identity of the nucleotide that Shawn Bradley has at that SNP position. In order to have statistically significant results, the Shawn Bradley SNPs would need to be compared against other populations, namely the 1,000 genome project4. By this comparison, it will become clear as to the phenotypic effects and frequency of these SNPs in the general population. After obtaining this information, further research can be conducted to analyze factors such as environment, non-additive loci, epistasis, and gene and environment interactions. Height is also a complex polygenic trait that can serve as a model for other complex traits and diseases. Studying height is an easy, non-invasive phenotype to study and develop models for future genomic analysis.


Keywords


SNPs; Height; Polygenic

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