The cytochrome P4501A1 gene polymorphisms and endometriosis: a meta-analysis

review OA: bronze CC0 ⤵ 9 in-corpus citations
AI-generated summary by claude@2026-06+body, 2026-06-12

This meta-analysis found CYP1A1 Ile462Val polymorphism is associated with increased endometriosis risk, especially in Asians, while CYP1A1 MspI polymorphism showed no association but may jointly affect risk with GSTM1 null genotypes.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

AI-generated deep summary by claude@2026-06, 2026-06-12 · read from full text

This paper conducted a meta-analysis of genetic association studies examining whether cytochrome P450 1A1 (CYP1A1) polymorphisms—specifically MspI and Ile462Val—are associated with endometriosis susceptibility, using searches of PubMed, Embase, and CNKI to compile 12 studies (1555 cases and 2868 controls). Across all genetic models, CYP1A1 MspI showed no significant overall association with endometriosis risk in the pooled analysis, including Asian and Caucasian subgroups, and publication bias was not detected; however, increased risk was observed for carrying the C allele of CYP1A1 MspI combined with GSTM1 null genotypes. For CYP1A1 Ile462Val, eight studies (878 cases and 1991 controls) found a statistically significant association with increased risk in the overall analysis under several genetic models, with the effect significant in Asians but not in Caucasians. This meta-analysis is centrally about endometriosis—it evaluates whether CYP1A1 gene polymorphisms, alone and in combination with GSTM1, influence endometriosis risk, with a reported increased association particularly for Ile462Val in Asians.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

Full text 10,305 characters · extracted from oa-doi-fallback · 5 sections · click to expand

Abstract

Purpose Cytochrome P450 1A1 (CYP1A1) polymorphisms were implicated in endometriosis risk, but individual published studies showed inconclusive results. Thus, a meta-analysis was performed to clarify the effect of CYP1A1 polymorphisms on endometriosis risk.

Methods

PubMed, Embase, and CNKI databases were searched to identify the eligible studies focusing on the associations between CYP1A1 MspI and Ile462Val polymorphisms and susceptibility to endometriosis. Summary odds ratios (ORs) and 95 % confidence intervals (95 % CIs) for CYP1A1 polymorphisms and endometriosis were calculated.

Results

Pooled analysis of 12 studies involved a total of 1555 cases and 2868 controls showed that in all genetic models, no significant association between CYP1A1 MspI polymorphism and endometriosis risk was observed in the overall, Asians and Caucasians population, respectively. Interestingly, increased endometriosis risk was associated with carrying the C allele of CYP1A1 combined with GSTM1 null genotypes. For CYP1A1 Ile462Val polymorphism, eight studies were available (878 cases and 1991 controls). In the overall analysis, CYP1A1 Ile462Val polymorphism had a statistically significant association with increased endometriosis risk in allele contrast and all genetic models except the model of Val/Ile vs. Ile/Ile. In the subgroup analysis by ethnicity, significant elevated endometriosis risk was associated with CYP1A1 Ile462Val polymorphism in Asians but not in Caucasians under all genetic models. No publication bias was found in the present studies.

Conclusions

This meta-analysis suggested that CYP1A1 Ile462Val polymorphism was associated with an increased risk of endometriosis, particularly in Asians. CYP1A1 MspI polymorphism may not be associated with endometriosis risk, but GSTM1 and CYP1A1 MspI polymorphism may have a joint effect on endometriosis risk. Similar content being viewed by others

References

Bulun SE. Endometriosis. N Engl J Med. 2009;360:268–79. Giudice LC, Kao LC. Endometriosis. Lancet. 2004;364:1789–99. Dun EC, Taylor RN, Wieser F. Advances in the genetics of endometriosis. Genome Med. 2010;2:75. Agundez JA. Cytochrome P450 gene polymorphism and cancer. Curr Drug Metab. 2004;5:211–24. Arvanitis DA, Koumantakis GE, Goumenou AG, Matalliotakis IM, Koumantakis EE, Spandidos DA. CYP1A1, CYP19, and GSTM1 polymorphisms increase the risk of endometriosis. Fertil Steril. 2003;79:702–9. Chen ZF, Ding Y, Lin RY, Wang XF, Ding JB. Relationship between endometriosis and MspI polymorphisms of cytochrome P4501A1(CYP1A1) gene or CYP1A1 MspI GSTM1 null genotypes combined. Prog Obstet Gynecol. 2005;14:285–8. Trabert B, Schwartz SM, Peters U, De Roos AJ, Chen C, Scholes D, et al. Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes. Fertil Steril. 2011;96:1401–6. An XF, Yang LP, Liu SJ. Study on the relationship between polymorphisms of CYP1A1 gene Exon7 and susceptibility of endometriosis in women of Han Nationality in Jilin City. Matern Child Health Care China. 2011;26:2174–6. Guo SW. The association of endometriosis risk and genetic polymorphisms involving dioxin detoxification enzymes: a systematic review. Eur J Obstet Gynecol Reprod Biol. 2006;124:134–43. Ioannidis JP, Boffetta P, Little J, O’Brien TR, Uitterlinden AG, Vineis P, et al. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol. 2008;37:120–32. Watanabe T, Imoto I, Kosugi Y, Fukuda Y, Mimura J, Fujii Y, et al. Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis. J Hum Genet. 2001;46:342–6. Parveen F, Faridi RM, Das V, Tripathi G, Agrawal S. Genetic association of phase I and phase II detoxification genes with recurrent miscarriages among North Indian women. Mol Hum Reprod. 2010;16:207–14. Arvanitis DA, Goumenou AG, Matalliotakis IM, Koumantakis EE, Spandidos DA. Low-penetrance genes are associated with increased susceptibility to endometriosis. Fertil Steril. 2001;76:1202–6. Peng DX, He YL, Qiu LW, Yang F, Lin JM. Association between gene mutation of cytochrome P450A1 in exon 7 A4889G locus and susceptibility to endometriosis. Chin J Med Genet. 2003;20:284–6. Yang LP, An XF. Analysis on the relationship between polymorphism of Exon 7 situs in CYP1A1 gene, GSTM1 gene and susceptibility of endometriosis in women of Han nationality in Jilin city. Matern Child Health Care China. 2009;24:2556–9. Matsuzaka Y, Kikuti YY, Goya K, Suzuki T, Cai LY, Oka A, et al. Lack of an association human dioxin detoxification gene polymorphisms with endometriosis in Japanese women: results of a pilot study. Environ Health Prev Med. 2012;17:512–7. Wu CH, Guo CY, Yang JG, Tsai HD, Chang YJ, Tsai PC, et al. Polymorphisms of dioxin receptor complex components and detoxification-related genes jointly confer susceptibility to advanced-stage endometriosis in the taiwanese han population. Am J Reprod Immunol. 2012;67:160–8. Rozati R, Giragalla SB, Bakshi H, Doddamaneni S, Khaja N, Sharma RS. The CYP1A1 and GSTM1 genetic polymorphisms and susceptibility to endometriosis in women from South India. Int J Fertil Steril. 2008;2:105–12. Tsuchiya M, Tsukino H, Iwasaki M, Sasaki H, Tanaka T, Katoh T, et al. Interaction between cytochrome P450 gene polymorphisms and serum organochlorine TEQ levels in the risk of endometriosis. Mol Hum Reprod. 2007;13:399–404. Juo SH, Wang TN, Lee JN, Wu MT, Long CY, Tsai EM. CYP17, CYP1A1 and COMT polymorphisms and the risk of adenomyosis and endometriosis in Taiwanese women. Hum Reprod. 2006;21:1498–502. Huber A, Keck CC, Hefler LA, Schneeberger C, Huber JC, Bentz EK, et al. Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-gene interactions. Obstet Gynecol. 2005;106:1025–31. Babu KA, Reddy NG, Deendayal M, Kennedy S, Shivaji S. GSTM1, GSTT1 and CYP1A1 detoxification gene polymorphisms and their relationship with advanced stages of endometriosis in South Indian women. Pharmacogenet Genomics. 2005;15:167–72. Ivashchenko TE, Shved NI, Kramareva NA, Aĭlamazian EK, Baranov VS. Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis. Genetika. 2003;39:525–9. Iizuka S, Kosugi Y, Isaka K, Takayama M. Could polymorphisms of N-acetyltransferase 2 (NAT2), glutathione S-transferase M1 (GSTM1), and cytochrome P450 (CYP1A1) be responsible for genetic predisposition to endometriosis among Japanese? J Tokyo Med Univ. 2003;61:59–66. Hadfield RM, Manek S, Weeks DE, Mardon HJ, Barlow DH, Kennedy SH, et al. Linkage and association studies of the relationship between endometriosis and genes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1. Mol Hum Reprod. 2001;7:1073–8. Cao YH, Yao L, Wang D, Han P. Relationship between endometriosis and cytochrome P4501A1 genetic polymorphism of the Hans Tangshan Heibei province. Chinese J Coal Ind Med. 2008;11:810–2. Peng DX, He YL, Qiu LW, Lin JM. The influence of gene mutation of CYP1A1 and GSTM1 on the endometriosis susceptibility. Guangdong Med J. 2004;25:923–4. Peng DX, He YL, Qiu LW, Yang F, Lin JM. Susceptibility to endometriosis in women of Han Nationality in Guangdong Province associated with Msp I polymorphisms of cytochrome P450 1A1 gene. J First Mil Med Univ. 2002;22:814–6. Birnbaum LS, Cummings AM. Dioxins and endometriosis: a plausible hypothesis. Environ Health Perspect. 2002;110:15–21. Nebert DW, McKinnon RA, Puga A. Human drug-metabolizing enzyme polymorphisms: effects on risk of toxicity and cancer. DNA Cell Biol. 1996;15:273–80. Spink DC, Eugster HP, Lincoln 2nd DW, Schuetz JD, Schuetz EG, Johnson JA, et al. 17 beta-estradiol hydroxylation catalyzed by human cytochrome P450 1A1: a comparison of the activities induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin in MCF-7 cells with those from heterologous expression of the cDNA. Arch Biochem Biophys. 1992;293:342–8. Zhao YC, Gong P, Chen YR, Nwachukwu JC, Srinivasan S, Ko CM, et al. Dual suppression of estrogenic and inflammatory activities for targeting of endometriosis. Sci Transl Med. 2015;7:271ra9. Shah PP, Saurabh K, Pant MC, Mathur N, Parmar D. Evidence for increased cytochrome P450 1A1 expression in blood lymphocytes of lung cancer patients. Mutat Res. 2009;670:74–8. Crofts F, Taioli E, Trachman J, Cosma GN, Currie D, Toniolo P, et al. Functional significance of different human CYP1A1 genotypes. Carcinogenesis. 1994;15:2961–3. Taioli E, Bradlow HL, Garbers SV, Sepkovic DW, Osborne MP, Trachman J, et al. Role of estradiol metabolism and CYP1A1 polymorphisms in breast cancer risk. Cancer Detect Prev. 1999;23:232–7. Masson LF, Sharp L, Cotton SC, Little J. Cytochrome P-450 1A1 gene polymorphisms and risk of breast cancer: a HuGE review. Am J Epidemiol. 2005;161:901–15. Trikalinos TA, Salanti G, Khoury MJ, Ioannidis JP. Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations. Am J Epidemiol. 2006;163:300–9. Fan W, Li S, Chen Q, Huang Z, Ma Q, Xiao Z. Association between interleukin-10 promoter polymorphisms and endometriosis: a meta-analysis. Gene. 2013;515:49–55. Sapkota Y, Low SK, Attia J, Gordon SD, Henders AK, Holliday EG, et al. Association between endometriosis and the interleukin 1A (IL1A) locus. Hum Reprod. 2015;30:239–48. Zhang QY, Guan Q, Wang Y, Feng X, Sun W, Kong FY, et al. BDNF Val66Met polymorphism is associated with Stage III-IV endometriosis and poor in vitro fertilization outcome. Hum Reprod. 2012;27:1668–75. Guo SW. Glutathione S-transferases M1/T1 gene polymorphisms and endometriosis: a meta-analysis of genetic association studies. Mol Hum Reprod. 2005;11:729–43. Author information Authors and Affiliations Corresponding author Additional information Capsule This meta-analysis suggested that CYP1A1 Ile462Val polymorphism was associated with an increased risk of endometriosis, particularly in Asians. Rights and permissions About this article Cite this article Fan, W., Huang, Z., Xiao, Z. et al. The cytochrome P4501A1 gene polymorphisms and endometriosis: a meta-analysis. J Assist Reprod Genet 33, 1373–1383 (2016). https://doi.org/10.1007/s10815-016-0783-4 Received: Accepted: Published: Issue date: DOI: https://doi.org/10.1007/s10815-016-0783-4

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

Ask this paper AI returns verbatim quotes from the full text · source: oa-doi-fallback

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Condition tags

endometriosis

MeSH descriptors

Cytochrome P-450 CYP1A1 Endometriosis Genetic Association Studies Glutathione Transferase Asian People Cytochrome P-450 CYP1A1 Endometriosis Endometriosis Female Genetic Predisposition to Disease Genotype Glutathione Transferase Humans Polymorphism, Single Nucleotide Risk Factors White People

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (38)

Cited by (9)

Source provenance

europepmc
last seen: 2026-06-12T06:13:51.797165+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:20:54.390225+00:00
License: CC0 · commercial use OK