Annotated Bibliography On Adolescent Idiopathic Scoliosis

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Tutorial Assignment 1

1. The title of the article is “ A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis”

Journal Reference:
Ogura Y, Kou I, Miura S, et al. A functional SNP in BNC2 is associated with adolescent idiopathic scoliosis. The American Journal of Human Genetics. 2015; 97(2): 337-342. doi: 10.1016/j.ajhg.2015.06.012

2. The authors studied this subject as it relates to a very prevalent medical diagnosis around the world, Adolescent idiopathic Scoliosis (AIS). This medical illness is the most common spinal deformity found in children from the age of 10 to the end of the pubertal growth spurt and can be very debilitating.1 The authors decided to study single nucleotide polymorphisms (SNP) and there effects on gene expression and protein regulation that may be linked to the disease because they had previously done a genome wide-association study where they identified two loci that were linked to AIS in a Japanese female population.1 This study was also replicated in Chinese and Caucasian ppulations.1 They knew they were on the right track that SNP’s and specific locations on the chromosome were linked to the disease and that they should look further into it. However, this link only explained an approximate 1% genetic variance in AIS and therefore the authors decided they should identify more susceptibility to genes and use a larger gene pool in their study. 1 They also conducted a whole genome imputation. 1

3. BNC2 or Baso-Nuclin 2, is
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