[Genetic aspects of endometriosis: features of the distribution of polymorphic gene frequencies].

Genetika · 1996 · vol. 32(12) , pp. 1693–9 · PMID:9102363 · W2414857616
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This study analyzed genetic polymorphism across multiple systems in women with and without endometriosis, finding significant differences in ABO, E2, C3, TF, and PGM1 loci and identifying rare alleles at the ESD locus in endometriosis patients.

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Abstract

In a group of patients with endometriosis and in a control group of healthy women, the polymorphism of the following systems were studied: ABO and RH blood-group systems; serum proteins haptoglobin (HP), transferrin (TF), vitamin D-transporting protein (GC), protease inhibitor (PI), and the third component of the complement (C3); serum enzymes-amylase of the loci 1 and 2 (AMY1 and AMY2), pseudocholinesterase (E2), and alkaline phosphatase (PP); erythrocytic enzymes-acid phosphatase (ACP1), phosphoglucomutase (PGM1), superoxide dismutase (SOD-A), esterase D (ESD), and glyoxalase (GLO1). Statistically significant differences between the groups compared were established for five genetic systems: ABO, E2, C3, TF, and PGM1. Among patient with endometriosis, the rare alleles of the locus ESD-ESD5 and ESD7-were found, along with ESD 5-5 homozygotes. Several genetic loci can be involved in the pathogenesis of endometriosis; their products can be specifically realized due to peculiarities of biochemical reactions in the organisms of people predisposed to this pathology.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Gene Frequency Polymorphism, Genetic ABO Blood-Group System ABO Blood-Group System Adolescent Adult Alleles Butyrylcholinesterase Butyrylcholinesterase Case-Control Studies Complement C3 Complement C3 Endometriosis Female Genetic Carrier Screening Genetic Markers Humans Isoantigens Isoantigens

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