Androgen receptor cytosine, adenine, and guanine trinucleotide repeat polymorphism in Korean patients with endometriosis: A case-control study.

STUDY OBJECTIVE: To investigate the association between the androgen receptor (AR) cytosine, adenine, and guanine (CAG) repeat polymorphisms and endometriosis. STUDY DESIGN: A prospective case-control, genetic association study was performed on women with surgically proven endometriosis (n=421) and controls free of endometriosis (n=349). AR CAG repeat lengths were determined from peripheral blood samples. The difference in the frequency of each alleles were compared in patients with endometriosis and controls using Chi-square test. MAIN RESULTS: No significant difference in biallelic length mean between patients and controls was observed. Alleles containing 24 CAG repeats were significantly more frequent in stage I-II (mild) endometriosis than in the control samples (19.8% and 13.3%, respectively; OR 1.60, 95% CI 1.04-2.47). Additionally, a higher frequency of both alleles with 24 or more CAG repeats was observed in individuals with mild endometriosis, in comparison with the controls (25.6% and 15.2%, respectively; OR 1.92, 95% CI 1.09-3.38). CONCLUSIONS: AR gene CAG repeat polymorphisms are associated with the increased risk of mild endometriosis.

The status of assisted reproductive technology in Korea in 2012.

OBJECTIVE: This study was designed to report the status of assisted reproductive technology (ART) therapy in South Korea between January 1, 2012 and December 31, 2012. METHODS: A localized online survey, originally developed by the International Committee Monitoring Assisted Reproductive Technologies, was first launched and provided to all available ART centers via email in 2015. Fresh embryo transfer (FET) cases were categorized as standard in vitro fertilization, intracytoplasmic sperm injection (ICSI), or half-ICSI. Thawed embryo transfer (TET) and other related procedures, including surgical sperm retrieval, were surveyed. RESULTS: Data from 33,956 ovum pick-up procedures were provided by 75 clinics in 2012. Of the 33,088 cycles in which ovums were retrieved, a complete transfer was performed in 90.5% (29,932 cycles). In addition, 10,079 FET cycles were confirmed to have resulted in clinical pregnancy, representing a pregnancy rate of 30.5% per ovum pick-up and 33.7% per ET. The most common number of embryos transferred in FET was 2 (41.6%), followed by 3 (34.0%), and non-elective single ETs (10.0%). Of the 10,404 TET cycles in which transfer was completed, 3,760 clinical pregnancies (36.1%) were confirmed by ultrasonography. CONCLUSION: The overall clinical pregnancy rate for FET and TET cycles in 2012 was higher than in 2011 (33.7% vs. 33.2% and 36.1% vs. 31.1%, respectively). The most common number of embryos transferred in FET cycles was 2, unlike in 2011.

Current status of assisted reproductive technology in Korea, 2011.

OBJECTIVE: The number of assisted reproductive technology (ART) clinics, ART cycles, clinical pregnancy rate (CPR), and number of newborns conceived using ART have steadily increased in South Korea. This aim of this study was to describe the status of ART in South Korea between January 1 and December 31, 2011. METHODS: A localized online survey was created and sent to all available ART centers via email in 2015. Fresh embryo transfer (FET) cases were categorized depending on whether standard in vitro fertilization, intracytoplasmic sperm injection (ICSI), or half-ICSI procedures were used. Thawed embryo transfer (TET) and other related procedures were surveyed. RESULTS: Data from 36,990 ART procedures were provided by 74 clinics. Of the 30,410 cycles in which oocytes were retrieved, a complete transfer was performed in 91.0% (n=27,683). In addition, 9,197 cycles were confirmed to be clinical pregnancies in the FET cycles, representing a pregnancy rate of 30.2% per oocyte pick-up and 33.2% per ET. The most common number of embryos transferred in the FET procedures was three (38.1%), followed by two (34.7%) and one (14.3%). Of the 8,826 TET cycles, 3,137 clinical pregnancies (31.1%) were confirmed by ultrasonography. CONCLUSION: While the overall clinical pregnancy rate for the TET cycles performed was lower than the rate reported in 2010 (31.1% vs. 35.4%), the overall CPR for the FET cycles was higher than in 2010 (33.2% in 2011 and 32.9% in 2010). The most common number of embryos transferred in FET cycles was three, as was the case in 2010.

Current status of assisted reproductive technology in Korea, 2010.

OBJECTIVE: Great advances have been made in the field of assisted reproductive technology (ART) since the first in vitro fertilization (IVF) baby was born in Korea. This study was designed to report on the current status of ART therapy in South Korea between January 1 and December 31 of 2010. METHODS: A revised survey, originally developed by the International Committee Monitoring Assisted Reproductive Technologies, was sent to all available ART centers via email in 2013. Fresh embryo transfer (FET) cases were categorized into standard IVF or intracytoplasmic sperm injections. These cases, the thawing embryo transfer (TET) cases, and other related procedures were surveyed. RESULTS: Data from 30,785 ART procedures were provided by 78 clinics. Of the 28,200 cycles in which oocytes were retrieved, 92.2% of these cycles were completely transferred. In addition, 8,075 cycles were confirmed to be clinical pregnancies in the FET cycles, which represent a pregnancy rate of 28.6% per oocyte pick-up and 31.1% per embryo transfer. The most common number of embryos transferred in the FET was three embryos (37.3%) followed by two embryos (36.3%) and one embryo (14.0%). Of the 6,648 TET cycles transferred, 2,356 clinical pregnancies were confirmed by ultrasonography. The most common number of embryos in the TET group was two embryos (43.4%) followed by three embryos (25.4%) and one embryo (18.9%). CONCLUSION: The clinical pregnancy rate per transfer in the FET cycles was similar in 2009 and 2010. Among the FET cycles where one or two embryos were transferred, the clinical pregnancy rate per transfer slightly increased from 2009 (28.7%) to 2010 (32.9%).

Association of CDKN2B-AS and WNT4 genetic polymorphisms in Korean patients with endometriosis.

OBJECTIVE: To investigate whether specific genetic polymorphisms in the cyclin-dependent kinase inhibitor 2B antisense RNA (CDKN2B-AS) gene and near the wingless-type MMTV integration site family member 4 (WNT4) gene are associated with endometriosis in a Korean population. DESIGN: Case-control genetic association study. SETTING: University. PATIENT(S): Surgically or histologically diagnosed cases of endometriosis (n=673) and controls (n=500) among a population of ethnic Koreans. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype distribution and synergistic interaction. RESULT(S): Significant differences were found in the allele distributions of the CC genotype of the rs10965235 single-nucleotide polymorphism (SNP) of the CDKN2B-AS gene and the GG genotype of the rs16826658 SNP on chromosome 1p36 between the endometriosis cases and the controls (rs10965235: 69.7% CC, 26.9% CA, and 3.4% AA vs. 59.2% CC, 35.2% CA, and 5.6% AA; rs16826658: 33.7% GG, 48.4% GT, and 17.8% TT vs. 25.6% GG, 49.8% GT, and 24.6% TT, respectively). A significant interaction was not found between the CC genotype of the rs10965235 SNP and the GG genotype of the rs16826658 SNP after Bonferroni correction (32.8% of CC+GG and 67.2% of CC+non-GG in the endometriosis cases vs. 25.0% of CC+GG and 75.0% of CC+non-GG in the controls). CONCLUSION(S): Our results suggest that the rs10965235 SNP in the CDKN2B-AS gene and the rs16826658 SNP near the WNT4 gene were significantly associated with endometriosis in this Korean population.

Current status of assisted reproductive technology in Korea, 2009.

Great advances have been made in the field of assisted reproductive technology (ART) since the first in vitro fertilization (IVF) baby was born in Korea in the year of 1985. However, it deserve to say that the invaluable data from fertility centers may serve as a useful source to find out which factors affect successful IVF outcome and to offer applicable information to infertile patients and fertility clinics. This article intended to report the status of ART in 2009 Korean Society of Obstetrics and Gynecology surveyed. The current survey was performed to assess the status and success rate of ART performed in Korea, between January 1 and December 31, 2009. Reporting forms had been sent out to IVF centers via e-mail, and collected by e-mail as well in 2012. With International Committee Monitoring Assisted Reproductive Technologies recommendation, intracytoplasmic sperm injection (ICSI) and non-ICSI cases have been categorized and also IVF-ET cases involving frozen embryo replacement have been surveyed separately. Seventy-four centers have reported the treatment cycles initiated in the year of 2009, and had performed a total of 27,947 cycles of ART treatments. Among a total of 27,947 treatment cycles, IVF and ICSI cases added up to 22,049 (78.9%), with 45.3% IVF without ICSI and 54.7% IVF with ICSI, respectively. Among the IVF and ICSI patients, patients confirmed to have achieved clinical pregnancy was 28.8% per cycle with oocyte retrieval, and 30.9% per cycle with embryo transfer. The most common number of embryos transferred in 2009 is three embryos (40.4%), followed by 2 embryos (28.4%) and a single embryo transferred (13.6%). Among IVF and ICSI cycles that resulted in multiple live births, twin pregnancy rate was 45.3% and triple pregnancy rate was 1.1%. A total of 191 cases of oocyte donation had been performed to result in 25.0% of live birth rate. Meanwhile, a total of 5,619 cases of frozen embryo replacement had been performed with 33.7% of clinical pregnancy rate per cycle with embryo transfer. When comparing with international registry data, clinical pregnancy rate per transfer from fresh IVF cycles including ICSI (34.1%,) was comparable to clinical pregnancy rate per transfer in European Society for Human Reproduction and Embryology report was 32.5% though lower than 45.0% for USA data. There was no remarkable difference in status of assisted reproductive technology in Korea between the current report and the data reported in 2008. The age of women trying to get pregnant was reconfirmed to be the most important factor that may have impact on success of ART treatment.

Association of epidermal growth factor receptor gene polymorphisms with advanced endometriosis in a Korean population.

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.

Inhibin α gene promoter polymorphisms in Korean women with idiopathic premature ovarian failure.

BACKGROUND: It has been suggested that variations in the inhibin α gene (INHA) may affect the ovarian function of women. This study was performed to investigate whether the genetic polymorphisms of the INHA gene are associated with idiopathic premature ovarian failure (POF) in a Korean population. METHODS: The subjects consisted of 159 idiopathic POF patients and 233 post-menopausal controls. Genotyping for the -16C>T polymorphism was performed by an minor groove binder (MGB) primer/probe Taqman assay, and the -124A>G polymorphism was identified using PCR restriction fragment length polymorphism analysis. Haplotypes were deduced by using the Haploview version 4.1. RESULTS: There were no significant differences in the genotype distributions or allele frequencies of the INHA gene -16C>T and -124A>G polymorphisms between the POF and the control group. Haplotype analysis also showed no significant difference between groups. CONCLUSIONS: The distribution of the INHA gene promoter polymorphisms in a Korean POF population was not significantly different from controls, implying that the INHA gene polymorphisms may not be associated with the risk of idiopathic POF.

Association of peroxisome proliferator-activated receptor-gamma 2 Pro12Ala polymorphism with advanced-stage endometriosis.

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.

Intercellular adhesion molecule-1 and interleukin-6 gene polymorphisms in patients with advanced-stage endometriosis.

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.

No association between the GSTP1 exon 5 polymorphism and susceptibility to advanced stage endometriosis in the Korean population.

PROBLEM: To investigate whether the glutathione-S-transferase P1 (GSTP1) exon 5 polymorphism is associated with susceptibility to advanced stage endometriosis in Korean women. METHOD OF STUDY: Case-control study in a collective of 260 patients and 164 controls. Genotyping of the GSTP1 exon 5 polymorphism was performed by using real-time TaqMan PCR assay. RESULTS: The genotype distribution of the GSTP1 exon 5 polymorphism in the endometriosis group was not significantly different from that of the control group (AA/AG/GG rates were 64.2%/32.7%/3.1% and 65.2%/31.7%/3.0% for the endometriosis and control groups, respectively, P = 0.977). Further subgroup analysis according to either stage or bilaterality of ovarian endometrioma also found no significant difference in the genotype distribution between any of the endometriosis subgroups and the control group. CONCLUSION: These findings suggest that the GSTP1 exon 5 polymorphism is not a major determinant of the development of advanced stage endometriosis in the Korean population.

Estrogen receptor beta gene +1730 G/A polymorphism in women with polycystic ovary syndrome.

OBJECTIVE: To investigate whether the +1730 G/A polymorphism in the estrogen receptor (ER)-beta gene is associated with susceptibility to polycystic ovary syndrome (PCOS). DESIGN: Case-control study. SETTING: University Department of Obstetrics and Gynecology. PATIENT(S): Women with (n = 138) or without (n = 290) PCOS. INTERVENTION(S): Genotyping was performed by polymerase chain reaction-restriction fragment-length polymorphism analysis. MAIN OUTCOME MEASURE(S): Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ER-beta gene. RESULT(S): There was a significant difference in the genotype distribution between the patients with PCOS and controls (non-GG rates were 22.1% for patients with PCOS and 36.6% for controls). There was also a significant difference in the G and A allele frequencies between these two groups (11.7% in patients vs. 19.1% in controls with A allele). But in patients with PCOS there were no significant differences in the serum levels of hormones, biochemical variables, or ovarian morphology between GG and non-GG genotypes. CONCLUSION(S): The ER-beta gene +1730 G/A polymorphism may be associated with pathophysiologic aberrancies involved in PCOS.

Estrogen receptor {alpha} gene polymorphisms in patients with idiopathic premature ovarian failure.

BACKGROUND: It has been reported that polymorphisms in the estrogen receptor (ER)-alpha gene (ESR1) may be associated with reproductive patterns of women. This study was performed to investigate whether the genetic polymorphisms of the ER-alpha gene are associated with idiopathic premature ovarian failure (POF) in a Korean population. METHODS: The subjects were 126 idiopathic POF patients and 221 post-menopausal controls recruited from university hospitals between 1999 and 2004. Genotyping was performed by MGB primer/probe Taqman assay. Haplotypes were deduced by using the Haploview version 4.1. Bonferroni correction was applied for the correction of multiple testing. RESULTS: There was no significant difference in the allele distribution of the ER-alpha gene (TA)n repeats between the POF and the control group. For the PvuII polymorphism, the POF group showed a higher frequency of TT genotype compared with the controls (41.3 versus 26.3%, P = 0.004, 98.75% CI 1.8-28.2%). No significant difference was found in the distribution of the XbaI polymorphism between the POF and the control group. Haplotype analysis showed that the frequency of TA haplotype was significantly higher in the POF patients compared with the controls (64.7 versus 52.7%, P = 0.002, 98.75% CI 2.4-21.6%). CONCLUSIONS: These findings suggest that the ER-alpha gene polymorphisms may be associated with idiopathic POF.

Interleukin-2 receptor beta gene C627T polymorphism in Korean women with endometriosis: a case-control study.

BACKGROUND: The purpose of this study was to investigate the potential association of the C627T polymorphism in the interleukin-2 receptor beta gene (IL-2R beta) with the risk of endometriosis in Korean women. METHODS: Two hundred and thirty-seven women with surgically or histologically diagnosed endometriosis of stages III and IV were recruited for this study, and 164 patients with no evidence of endometriosis diagnosed by laparoscopy or laparotomy served as controls. The C627T polymorphism of the IL-2R beta was assessed using the TaqMan allelic discrimination assay. Chi2 analysis was used to examine any differences in genotype distributions and allele frequencies of the IL-2R beta C627T polymorphism between the endometriosis cases and the controls. RESULTS: There was no statistically significant difference in the frequency of the IL-2R beta C627T polymorphism between the endometriosis patients and the controls (28.7% C/C, 48.1% C/T and 23.2% T/T versus 29.3, 44.5 and 26.2%, respectively, P = 0.72) or in the T allele frequencies (47.3 versus 48.5%, respectively, P = 0.73). Even when the endometriosis cases were subdivided into stages III and IV, no statistically significant differences in genotype distributions or allele frequencies were observed among the three groups. CONCLUSIONS: Contrary to the recent data reported in a Taiwanese population, our results suggest that the C627T polymorphism of the IL-2R beta gene may not be associated with the risk of endometriosis in the Korean population.

Endothelial nitric oxide synthase gene Glu298Asp polymorphism is associated with advanced stage endometriosis.

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.

Association of tumor necrosis factor-{alpha} gene polymorphisms with advanced stage endometriosis.

BACKGROUND: This study was performed to investigate whether specific haplotypes and several single nucleotide polymorphisms in the promoter region of the tumor necrosis factor (TNF)-alpha gene are associated with the risk of advanced stage endometriosis in a Korean population. METHODS: This study comprised women with (n = 246) or without (n = 248) endometriosis. The TNF:g.[-1031T > C], TNF:g.[-863C > A] and TNF:g.[-857C > T] polymorphism in the TNF-alpha gene were assessed by PCR-restriction fragment length polymorphism analysis, which utilized digestion by BbsI, HypCH4IV and HypCH4IV restriction enzymes, respectively. In silico haplotypes were deduced by using the Haploview version 3.32. RESULTS: The genotype distribution of TNF:g.[-1031T > C] was significantly different between total endometriosis patients and the controls (T/T of 56.9 versus 60.1%, T/C of 35.4 versus 37.5% and C/C of 7.7 versus 2.4%, respectively, P = 0.027). This difference at the TNF:g.[-1031T > C] tends to increase in Stage IV endometriosis (P = 0.01). However, there was no difference in the TNF:g.[-863C > A] and TNF:g.[-857C > T] site between the two groups. Even when the endometriosis cases were subdivided into American Society for Reproductive Medicine Stages III and IV, genotype differences were not found. The CC homozygote at TNF:g.-863 was more frequently found in the controls than Non-CC group (P = 0.04; odds ratio = 0.67; 95% confidence interval = 0.45-0.98). All haplotypes and diplotypes, deduced by in silico analysis, showed no association with subgroups or controls. CONCLUSIONS: Our results suggest that the genotype frequencies at the TNF:g.[-1031T > C] and the TNF:g.[-863C > A] sites may be associated with advanced stage endometriosis in the Korean population.

Hysteroscopic resection of the vaginal septum in uterus didelphys with obstructed hemivagina: a case report.

Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare congenital anomaly. Excision of the obstructed vaginal septum is the treatment of choice for symptom relief and the preservation of reproductive capability. A 14-yr-old girl complained of persistent vaginal spotting following each menstruation. Pelvic magnetic resonance imaging revealed a uterus didelphys with left hematocolpos and ipsilateral renal agenesis. Instead of conventional transvaginal excision of the vaginal septum, we used hysteroscopic excision under transabdominal ultrasonographic guidance to preserve the integrity of the hymen. The postoperative course was uneventful, and clinical symptoms were completely resolved after this intervention. Resectoscopic excision of the vaginal septum was found to be easy, safe, effective, and appropriate for young women as it preserved hymen integrity. We believe that this is the first Korean report on the use of a hysteroscopy for vaginal septum resection in a patient with uterus didelphys with obstructed hemivagina.

Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes.

BACKGROUND: This study was performed to determine whether genetic polymorphisms of aryl hydrocarbon receptor repressor (AhRR), glutathione-S-transferase M1 (GSTM1) and glutathione-S-transferase T1 (GSTT1) are associated with susceptibility to advanced stage endometriosis in a Korean population. METHODS: This study comprised 316 women with advanced stage endometriosis and 256 control women without endometriosis. Genotyping of the AhRR codon 185 was performed by real-time polymerase chain reaction (PCR) analysis. GSTM1 and GSTT1 genotyping for gene deletions were carried out by multiplex PCR analysis. RESULTS: G allele frequency at codon 185 of AhRR was increased in patients with endometriosis (P=0.047), and there was a trend for an association of C/G+G/G genotypes with risk of endometriosis (P=0.06). The proportion of null mutation at GSTT1 also tended to increase (P=0.06) in patients with endometriosis, whereas there was no difference in the genotype distribution of GSTM1 genes. Analyzing AhRR and GSTT1 together, we found that patients with high-risk genotypes at both loci have increased risk of endometriosis, compared with patients without high-risk genotypes (P=0.015). CONCLUSIONS: These findings suggest that the AhRR codon 185 and GSTT1 polymorphisms are associated with the risk of advanced stage endometriosis.

Estrogen receptor beta gene +1730 G/A polymorphism in women with endometriosis.

OBJECTIVE: To investigate whether the +1730 G/A polymorphism of the estrogen receptor beta (ER-beta) gene is associated with the risk of endometriosis in a Korean population. DESIGN: Case-control study. SETTING: University Department of Obstetrics and Gynecology. PATIENT(S): Women with (n = 239) or without (n = 287) endometriosis. INTERVENTION(S): The +1730 G/A polymorphism of 3'-UTR of exon 8 in the ER-beta gene was assessed by polymerase chain reaction-restriction fragment-length polymorphism analysis utilizing digestion with AluI restriction enzyme. MAIN OUTCOME MEASURE(S): Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ER-beta gene. RESULTS: The genotype distribution of the +1730 G/A polymorphism in the ER-beta gene was not different between the endometriosis patients and the controls (G/G of 74.9% vs. 72.5%, G/A of 25.1% vs. 26.1%, and A/A of 0.0% vs. 1.4%, respectively). There was also no difference in the G and A allele frequencies between the two groups (87.4% vs. 85.5%, and 12.6% vs. 14.5%, respectively). Even when the endometriosis cases were subdivided into American Society for Reproductive Medicine stage I-II, III, IV, and III-IV, no differences were found at all in the genotype distribution or allele frequencies between the two groups. CONCLUSION(S): Our results suggest that the +1730 G/A polymorphism of the ER-beta gene may not be associated with the risk of endometriosis in the Korean population, which was not the case in the Japanese population.

Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET.

This study was performed to investigate the association between FSH receptor (FSHR) gene polymorphism at position 680 and the outcomes of controlled ovarian hyperstimulation (COH) for in vitro fertilization and embryo transfer (IVF-ET) in Korean women. Two hundred and sixty-three patients under 40 years of age who underwent IVF-ET procedures were included in this study. Patients with polycystic ovary syndrome, endometriosis, or a previous history of ovarian surgery were excluded. Following extraction of genomic DNA, the FSHR polymorphism at position 680 was determined by polymerase chain reaction and restriction fragment length polymorphism analysis. The FSHR genotype distribution was 41.8% for Asn/Asn, 45.6% for Asn/Ser, and 12.5% for Ser/Ser FSHR genotype groups. Although there was no difference among the three genotype groups in terms of the age and infertility diagnosis of study subjects, the basal levels of FSH (day 3) were significantly different [5.7 +/- 0.3 IU/l (mean+/-SEM), 6.0 +/- 0.3 IU/l, and 8.2 +/- 0.9 IU/l for Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively. The Ser/Ser group tended to require a higher dose of gonadotropins for COH, and tended to show lower serum estradiol levels at the time of hCG administration than the other two groups, though these differences did not reach statistical significance. The numbers of oocytes retrieved tended to be different for the three groups (9.6 +/- 0.6, 10.2 +/- 0.6, and 7.9 +/- 0.8 for Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively). Clinical pregnancy rate was significantly higher in Asn/Asn, compared to the others (45.7 vs. 30.5%, P=0.013). The homozygous Ser/Ser genotype of FSHR polymorphism at position 680 may be associated with a reduced ovarian response to COH for IVF-ET, while Asn/Asn genotypes showed a higher pregnancy rate.