Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology

Tempfer CB, Clemens B Tempfer, Clemens Tempfer, Christian Schneeberger, Schneeberger C, Johannes Huber, Huber JC, Johannes C. Huber
Pharmacogenomics · 2004 · vol. 5(1) , pp. 57–65 · doi:10.1517/phgs.5.1.57.25687 · PMID:14683420 · W2160293805
Review OA: closed CC0 ⤵ 11 in-corpus citations
View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-28 ⓘ

Polymorphisms in genes such as CYP, Factor V, and ER-alpha are hereditary determinants of susceptibility to and disease course in various gynecologic and obstetric conditions including pregnancy loss, pre-eclampsia, and breast cancer.

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

Abstract

The number of reports investigating disease susceptibility based on the carriage of low-penetrance, high-frequency polymorphisms has steadily increased over the last years. Evidence based on meta-analyses of individual case-control studies is accumulating, defining specific individual variations in disease susceptibility. For example, genetic variations of the estradiol metabolism have been described as significant contributors to disease susceptibility with variations depending on ethnic background. In the field of obstetrics and gynecology, the genetic contribution of polymorphic markers to a series of disorders has been characterized. These disorders include recurrent pregnancy loss, pre-eclampsia, endometriosis, breast cancer, and hormone replacement therapy (HRT)-related complications such as thrombosis. Among other genetic markers, thrombophilic genetic variants, such as the Factor V Leiden and prothrombin G20210A polymorphisms, as well as genetic variants of cytochrome P450 (CYP) enzymes, for example, CYP19 and CYP1B1, have been established as genetic risk markers and disease modifiers of recurrent and sporadic pregnancy loss and HRT-independent and -dependent breast cancer, respectively. In addition, meta-analyses of data in the literature established the TGFBR1*6A, GSTP I105V, and TP53 R72P polymorphisms, as well as the GSTM1 gene deletion as low-penetrance genetic risk factors of sporadic breast cancer. With respect to genetic modulation of therapeutic effects, beneficial effects of estrogen replacement therapy and HRT are modulated by the carriage of single nucleotide polymorphisms, for example, osteoprotection and blood lipid changes by the estrogen receptor-alpha (ER-a) PvuII polymorphism. Polymorphisms of the catechol-O-methyltransferase (COMT), ER-alpha, IL-1 receptor antagonist, and Factor V genes have been demonstrated to modulate the timing of natural menopause. Lastly, a strong genetic contribution of polymorphisms to the development and the clinical course of endometriosis has been established with data pointing to polymorphisms of the COMT, GST, NAT-2, and ER-alpha genes as susceptibility markers. In summary, the available evidence points to a number of polymorphisms of a wide variety of genes as strong hereditary determinants of the susceptibility to benign and malignant gynecologic and obstetric conditions.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Genetic Predisposition to Disease Genetic Predisposition to Disease Genital Diseases, Female Pharmacogenetics Pharmacogenetics Polymorphism, Genetic Polymorphism, Genetic Pregnancy Complications Pregnancy Complications Female Female Gene Deletion Gene Deletion Gene Expression Gene Expression Gene Expression Genetic Markers Genetic Markers Genetic Markers Genital Diseases, Female

Citation neighborhood (2-hop)

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. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (49)

Cited by (10)

Source provenance

europepmc
last seen: 2026-10-09T06:09:53.026058+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-08T21:02:12.072533+00:00
License: CC0 · commercial use OK