• PMID: 27117375
• Gene Name: CYP1A1
• Condition: Total motile sperm
• Association: Allele frequency of the 3801T>C polymorphism does not correlate with semen production as determined by TMS counts orsperm function as determined by fertilization rates with ICSI. The use of neither semen analysis parameters nor fertilization rates with IC
• Mutation: CYP1A1 3801T>C polymorphism
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Total motile sperm

CYP1A1 3801T>C polymorphism implicated in altered xenobiotic metabolism is not associated with variations in sperm production and function as measured by total motile sperm and fertilization rates with intracytoplasmic sperm injection

Franasiak JM, Barnett R, Molinaro TA, Gabriele D, Gartmond TD, Treff NR, Scott RT.

OBJECTIVE: To evaluate the cytochrome P450 3801T>C polymorphism's frequency in relation to semen production, as determined by semen analysis parameters, and sperm function, as determined by fertilization rates with intracytoplasmic sperm injection (ICSI). DESIGN: Case-control study. SETTING: Academic-affiliated private practice. PATIENT(S): This study included patients undergoing IVF from 2004 to 2014 grouped into categories based on semen analysis parameters performed at a single andrology laboratory. Cases were patients with total motile sperm (TMS) counts of ≤20 × 10(6). Frequency-matched controls were selected with TMS of >20 × 10(6). INTERVENTION(S): The 3801T>C polymorphism was identified using DNA from serum samples with real-time quantitative polymerase chain reaction. MAIN OUTCOME MEASURE(S): CYP1A1 3801T>C polymorphism frequency in TMS groups and distribution in fertilization rate outcomes with ICSI. RESULT(S): A total of 460 cases were identified with ≤20 × 10(6) TMS, and 489 age-matched controls with >20 × 10(6) TMS were selected across the study time frame. For those with <5 × 10(6) vs. >20 × 10(6) TMS there was no difference when comparing heterozygous (odds ratio [OR] 0.96; 95% confidence interval [CI] 0.66-1.40) or homozygous mutant (OR 1.33; 95% CI 0.52-3.20) with the wild-type patients. Additionally, no difference was seen when analyzing subgroups <5 × 10(6), 5-20 × 10(6), and >20 × 10(6) TMS in a similar fashion. Receiver operating characteristic (ROC) curve analysis did not find a significant TMS count based on presence of the polymorphism (area under the ROC curve = 0.51). There were 460 patients who underwent IVF/ICSI, and fertilization rates did not differ with presence of the polymorphism (area under the ROC curve = 0.50). CONCLUSION(S): Allele frequency of the 3801T>C polymorphism does not correlate with semen production as determined by TMS counts or sperm function as determined by fertilization rates with ICSI. The use of neither semen analysis parameters nor fertilization rates with ICSI helps identify CYP1A1 polymorphism carriers. CI - Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Franasiak, Jason M AU - Franasiak JM AD - Division of Reproductive Endocrinology, Department of Obstetrics, Gynecology and Reproductive Science, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey. Electronic address: jfranasiak@rmanj.com. FAU - Barnett, Rebecca AU - Barnett R AD - Division of Reproductive Endocrinology, Department of Obstetrics, Gynecology and Reproductive Science, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey. FAU - Molinaro, Thomas A AU - Molinaro TA AD - Reproductive Medicine Associates of New Jersey, Morristown, New Jersey. FAU - Gabriele, David AU - Gabriele D AD - Reproductive Medicine Associates of New Jersey, Morristown, New Jersey. FAU - Gartmond, Tori D AU - Gartmond TD AD - Reproductive Medicine Associates of New Jersey, Morristown, New Jersey. FAU - Treff, Nathan R AU - Treff NR AD - Division of Reproductive Endocrinology, Department of Obstetrics, Gynecology and Reproductive Science, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey; Reproductive Medicine Associates of New Jersey, Morristown, New Jersey.