Idiopathic Scoliosis is a deformity of the spine, due to the growth of the person, shaped like an “C” or “S”; at a minimum Cobb angle of 10°. Some studies show that Idiopathic Scoliosis may be a condition due to multifactorial effects. However, recent studies have found a susceptibility allele rs10738445 increases the expression of the BNC2 gene especially in homozygous for the haplotype CC. The BNC2 protein is present in the myoblasts and uterus, spinal cord, bone, and cartilage tissue. Thus, suggesting that there is a relationship between the increase in the gene and the etiology of Idiopathic Scoliosis. Other findings suggest a functional role for BNC2 in the development and progression of spinal deformity in patients with Idiopathic Scoliosis. The SNP rs10738445 of the BNC2 gene appeared in the genomic study 1000 Genomes Project, and Puerto Rico showed a genotypic frequency of 0.53 for the haplotype CC. Using rt-PCR, 622 samples of the general population of Puerto Rico were genotyped for the SNP rs10738445. In this study, we obtained that the genotype CC of rs10738445 has a genotypic frequency of 0.059 in Puerto Rico, with a higher prevalence in the western area. The differences in genotypic frequencies could be the result of the bias in the sampling of the Puerto Ricans that participated in the 1000 Genomes Project. We are planning to genotype patients diagnosed with Idiopathic Scoliosis and other spinal deformities for this variant in Puerto Rico.
Support or Funding Information
This research was possible with the help of Mr. Edwin G. Ramírez Aponte who provided us with the necessary materials and reagents. Also, a special thanks to Dr. Juan Carlos Martínez Cruzado which provided the workspace and the repertoire of DNA sample. At last, with the group of students that work on the Study of Genetic Variants of Risk Factors and Mendelians Conditions in Puerto Rico for their hard work.
This research was possible with the help of Mr. Edwin G. Ramamp;iacute;rez Aponte who provided us with the necessary materials and reagents. Also, a special thanks to Dr. Juan Carlos Martamp;iacute;nez Cruzado which provided the workspace and the repertoire of DNA sample. At last, with the group of students that work on the lt;igt;Study of Genetic Variants of Risk Factors and Mendelians Conditions in Puerto Ricolt;/igt; for their hard work.
