TABLE 1.
Allele variant | Reference SNP identification no. | Substitution | Functionality |
---|---|---|---|
CYP3A4*22 | rs35599367 | C>T | Decreased enzymatic activity9–17 |
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 activity9–17 |
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.