ABSTRACT
OBJECTIVES: To determine if specific single nucleotide polymorphisms (SNPs) in the Epidermal Growth Factor Receptor (EGFR) gene were meaningful markers for the risk of advanced stage endometriosis in a Korean population. STUDY DESIGN: Case-control study in a collective of 299 women with endometriosis and 285 controls. Three polymorphisms (151904 A>T [T628T] on exon 16 [rs 17337023], 162093 G>A [Q787Q] on exon 20 [rs 10251977], and 181946 C>T [D994D] on exon 25 [rs 2293347]) were assessed by a Minor Groove Binder (MGB) primer/probe Taqman assay. In-silico haplotypes were deduced using the Haploview (version 3.32) software package. RESULTS: There were no statistically significant differences in the genotype or haplotype frequencies of the three EGFR polymorphisms between subjects with endometriosis versus the control group. Even when the endometriosis cases were subdivided into stage III and IV based on the ASRM criteria, no statistically significant differences in genotype distribution or haplotype frequencies were observed between the three groups. CONCLUSIONS: Our results suggest that the 151904 A>T, 162093 G>A, and 181946 C>T polymorphisms in the EGFR gene are not associated with advanced stage endometriosis in a Korean population. Our results are in agreement with the results reported by Inagaki et al.
Subject(s)
Endometriosis/genetics , ErbB Receptors/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Alleles , Case-Control Studies , Computational Biology , Endometriosis/blood , Endometriosis/metabolism , Endometriosis/physiopathology , ErbB Receptors/metabolism , Exons , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Hospitals, University , Humans , Republic of Korea , Severity of Illness Index , Young AdultABSTRACT
PROBLEM: To investigate whether the peroxisome proliferator-activated receptor (PPAR)-γ2 Pro12Ala polymorphism is associated with a risk of advanced-stage endometriosis in a Korean population. METHODS OF STUDY: Case-control study in a collective of 446 patients and 427 controls. The Pro12Ala polymorphism of PPAR-γ2 gene was genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. RESULTS: The distribution of the PPAR-γ2 Pro12Ala polymorphism was different between the advanced-stage endometriosis group and the control group (non-CC rates were 5.2% for patients with advanced endometriosis and 10.1% for the control group, respectively, P = 0.006). The frequency for the Ala-12 allele variant was significantly lower in patients with advanced stage of endometriosis (2.7%) than in the control group (5.3%) (P = 0.006). CONCLUSION: These findings suggest that the PPAR-γ2 Pro12Ala polymorphism is associated with advanced-stage endometriosis in the Korean population. Unlike results from other studies reported so far, the Ala-12 allele may have protective effects against advanced-stage endometriosis in the Korean population.
Subject(s)
Endometriosis/genetics , PPAR gamma/genetics , Alleles , Case-Control Studies , Chi-Square Distribution , DNA/chemistry , DNA/genetics , Endometriosis/immunology , Female , Genetic Variation , Humans , PPAR gamma/immunology , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single NucleotideABSTRACT
BACKGROUND/AIMS: To investigate whether the peroxisome proliferator-activated receptor-gamma (PPAR-gamma) Pro12Ala and the PPAR-gamma coactivator-1alpha (PGC-1alpha) Gly482Ser polymorphisms were associated with polycystic ovary syndrome (PCOS). METHODS: Genetic analyses of the PPAR-gamma Pro12Ala and the PGC-1alpha Gly482Ser polymorphisms were performed in 184 patients with PCOS and 256 controls. Hormone levels, biochemical and clinical features were analyzed according to these polymorphisms. RESULTS: Neither the PPAR-gammaPro12Ala nor the PGC-1alpha Gly482Ser polymorphism showed significant differences in genotypic distribution between women with PCOS and controls. In PCOS patients, women with the non-Pro/Pro genotypes of the PPAR-gamma Pro12Ala polymorphism showed statistically significantly higher HDL levels than those with the Pro/Pro genotype (p = 0.002). PCOS patients who had the Ser/Ser genotype of the PGC-1alpha Gly482Ser polymorphism had significantly higher levels of postprandial 2-hour insulin than those with the Gly/Ser genotype (p = 0.045). CONCLUSIONS: Neither the PPAR-gammaPro12Ala nor the PGC-1alpha Gly482Ser polymorphism were supposed to be susceptible genes in PCOS. However, in PCOS patients, the PPAR-gammaPro12Ala and the PGC-1alpha Gly482Ser polymorphism may modulate the concentrations of serum HDL levels and postprandial 2-hour insulin level, respectively.
Subject(s)
Heat-Shock Proteins/genetics , PPAR gamma/genetics , Polycystic Ovary Syndrome/genetics , Transcription Factors/genetics , Adult , Cholesterol, HDL/blood , Female , Genotype , Humans , Insulin/blood , Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha , Phenotype , Polycystic Ovary Syndrome/metabolism , Polymorphism, Genetic , Postprandial Period/physiology , Republic of Korea , Young AdultABSTRACT
BACKGROUND/AIMS: The aim of this study was to investigate the possibility that the K469E and G241R polymorphisms in the intercellular adhesion molecule-1 (ICAM-1) gene and the C-634G polymorphism in the interleukin (IL)-6 gene are associated with endometriosis in the Korean population. METHODS: The ICAM-1 gene K469E and G241R polymorphisms and the IL-6 gene C-634G polymorphism were evaluated in 390 patients with endometriosis and 351 controls by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The ICAM-1 gene G241R polymorphism was not observed in all subjects. No differences were observed in the ICAM-1 K469E and IL-6 C-634G genotype distributions and allele frequencies between patients with endometriosis and controls. In subgroup analyses according to the stage of endometriosis or bilaterality of ovarian endometriomas, no significant differences were observed in the ICAM-1 gene K469E or the IL-6 gene C-634G polymorphism frequencies between the subgroups and the controls. The combined analysis of the ICAM-1 gene K469E polymorphism and the IL-6 gene C-634G polymorphism did not show any additional significant findings. CONCLUSIONS: The K469E and G241R polymorphisms in the ICAM-1 gene and the C-634G polymorphism in the IL-6 gene may not be genetic factors related to susceptibility to advanced-stage endometriosis in the Korean population.
Subject(s)
Asian People/genetics , Endometriosis/genetics , Intercellular Adhesion Molecule-1/genetics , Interleukin-6/genetics , Polymorphism, Restriction Fragment Length , Adolescent , Adult , Asian People/statistics & numerical data , Endometriosis/ethnology , Female , Gene Frequency , Genetic Predisposition to Disease/ethnology , Humans , Middle Aged , Republic of Korea , Risk Factors , Severity of Illness Index , Young AdultABSTRACT
BACKGROUND: Altered expression of endothelial nitric oxide synthase (eNOS) has been reported to be involved in the development of endometriosis. The genotypes of eNOS gene (NOS3) may be responsible for variation in its enzymatic activity as well as plasma concentration of nitric oxide. The Glu298Asp polymorphism of the NOS3 may modulate angiogenesis and influence individual susceptibility to endometriosis. This study was designed to evaluate the association between the Glu298Asp polymorphism of the NOS3 and advanced stage endometriosis. METHODS: This study consisted of 299 women with advanced stage endometriosis and 459 control women without endometriosis in a Korean population. Genotyping results of the Glu298Asp polymorphism of the NOS3 were analyzed between the endometriosis and control group. RESULTS: The genotypic frequencies were significantly different between women with and without endometriosis. The frequency of the non-GG genotype (GT + TT) was higher in the endometriosis group than in the control group (P = 0.001). CONCLUSION: These findings suggest that the T allele, encoding aspartic acid, of the Glu298Asp polymorphism of the NOS3 may be associated with advanced stage endometriosis in the Korean population.
