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. Author manuscript; available in PMC: 2018 Apr 12.
Published in final edited form as: Am J Obstet Gynecol. 2017 May 15;217(3):369.e1–369.e9. doi: 10.1016/j.ajog.2017.05.019

TABLE 1.

Single nucleotide polymorphisms of selected genes included in analysis

Allele variant Reference SNP identification no. Substitution Functionality
CYP3A4*22 rs35599367 C>T Decreased enzymatic activity917
CYP3A4*1B rs2740574 A>G Higher enzymatic expression in vitro,20 however in vivo studies suggest reduced catalytic activity for this allele21
CYP3A4*1G rs2242480 C>T Gain-in-function polymorphism that increases enzymatic activity18,19
CYP3A5*3 rs776746 A>G Decreased enzymatic activity917
PR SNP rs578029 A>T May affect clinical efficacy of 17OHP-C33
PR SNP rs471767 A>G May affect clinical efficacy of 17OHP-C33
PR SNP rs666553 C>T May affect clinical efficacy of 17OHP-C33
PR SNP rs503362 C>G May affect clinical efficacy of 17OHP-C33
PR SNP rs500760 A>G May affect clinical efficacy of 17OHP-C33
PR SNP rs653752 C>G May affect clinical efficacy of 17OHP-C33

PR, progesterone receptor; SNP, single nucleotide polymorphism; 17 OHP-C, 17-alpha hydroxyprogesterone caproate.

Bustos et al. Association of CYP3A and PR SNPs and 17 OHP-C. Am J Obstet Gynecol 2017.