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Austin, E.D., Loyd, J.E. and Phillips, J.A. (1993) Heritable Pulmonary Arterial Hypertension. In: Pagon, R.A., Adam, M.P., Ardinger, H.H., Wallace, S.E., Amemiya, A., Bean, L.J.H., et al., Eds., Gene Reviews, Seattle.

has been cited by the following article:

• TITLE: Identifying Changes in Punitive Transcriptional Factor Binding Sites Created by PPARα/δ/γ SNPs Associated with Disease

  AUTHORS: Norman E. Buroker

  KEYWORDS: PPARα/δ/γ Gene Regulation, SNPs, TFBS, Human Disease

  JOURNAL NAME: Journal of Biosciences and Medicines, Vol.5 No.4, April 30, 2017

  ABSTRACT: Single nucleotide polymorphisms (SNPs) located in the PPARα/δ/γ genes that have been previously found to be significantly associated with human disease or a condition were also found to alter the genes punitive transcriptional factor binding sites (TFBS). Two alleles (C/G) of the PPARα SNP (rs1800206) were found to generate 7 common and 8 unique punitive TFBS. One of the unique TFBS created by the minor G (0.02) allele is for the T-Box 4 (TBX4) transcription factor which is associated with heritable pulmonary arterial hypertension. Two alleles (A/G) of the PPARδ SNP (rs2016520) were found to generate 20 unique punitive TFBS while the two alleles (C/G) of the PPARδ SNP (rs9794) were found to generate 11 common and 11unique punitive TFBS. The alleles of the PPARγ SNPs (rs10865710, rs12629751, rs709158, rs1805192 and rs3856806) were found to generate 15, 12, 16, 2 and 21 common and 9, 4, 12, 4 and 7 unique punitive TFBS, respectively. These changes in TFBS are discussed with relation to alterations in gene expression that may result in disease or change in human condition.