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Objective: To investigate whether certain polymorphisms are correlated with leiomyoma susceptibility, i.e., interleukin (IL)-1, IL-2, IL-4, IL-8, IL-12, and IL-18, which are all immunomodulatory cytokines that play important roles in host immune responses against cancers. Setting: Departments of gynecology and genetics in a medical center. Patient(s): Women were divided into: [1] a leiomyoma group (n = 162) and [2] a nonleiomyoma group (n = 156). Intervention(s): Genotyping for the IL-1β-511 promoter, IL-1β exon 5, IL-1Ra, IL-2 114, IL-4 −590 intron 3, IL-8 3′-UTR 2767, IL-12Rβ1 codon 378, and IL-18 105 were evaluated by polymerase chain reaction-restriction fragment length polymorphism. Main Outcome Measurement(s): Genotypes and allelic frequencies in both groups were compared. Result(s): Proportions of IL-12Rβ1 codon 378 *CC/CG/GG in the leiomyoma and nonleiomyoma groups were: [1] 7.4%/43.8%/48.8% and [2] 11.5%/54.5%/34%, respectively. Distributions of other polymorphisms in both groups were not significantly different. Proportions of IL-1β-511 promoter *CC/CT/TT were: [1] 22.8%/50%/27.2% and [2] 21.8%/57.1%/21.1% in the leiomyoma and nonleiomyoma groups, respectively. The IL-1β exon 5 *E1 homozygote/heterozygote/E2 homozygote were: [1] 96.3%/3.7%/0% and [2] 96.9%/3.1%/0% in the leiomyoma and nonleiomyoma groups, respectively. Alleles I/II/III/IV/V for IL-1Ra were: [1] 92.6%/7.1%/0.3%/0/0% and [2] 93.9%/5.7%/0%/0.4/0% in the leiomyoma and nonleiomyoma groups, respectively. The IL-2 114 G homozygote/heterozygote/T homozygote were: [1] 27.8%/49.4%/22.8% and [2] 20.5%/53.2%/26.3% in the leiomyoma and nonleiomyoma groups, respectively. The IL-4 −590 intron 3 *RP1 homozygote/heterozygote/RP2 homozygote were: [1] 64.8%/32.7%/2.5% and [2] 69.2%/26.9%/3.9% in the leiomyoma and nonleiomyoma groups, respectively. The IL-8 3′-UTR 2767 A homozygote/heterozygote/G homozygote were: [1] 14.2%/43.8%/42% and [2] 20.5%/41.7%/37.8% in the leiomyoma and nonleiomyoma groups, respectively. The IL-18 *AA/AC/CC were: [1] 56.8%/40.7%/2.5% and [2] 59%/39.7%/1.3% in the leiomyoma and nonleiomyoma groups, respectively. Conclusion(s): The IL-12Rβ1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1β-511 promoter, IL-1β exon 5, and IL-1Ra, IL-2 114, IL-4 −590 intron 3, IL-8 3′-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma. [Copyright &y& Elsevier]

Objective: To investigate the conception probability among Chinese women.Design: Prospective observational study.Setting: Clinics in hospitals and family planning institutes in 10 provinces and cities.Patient(s): A total of 851 healthy married women aged 18-35 years with normal menstrual cycles who wish to have babies and with no contraception.Intervention(s): Urinary LH was measured around days of expected ovulation for 7 days. The Barrett and Marshall model was used for calculation of conception probabilities on each cycle day from day -5 to day +1 in women with multiple episodes of intercourse.Main Outcome Measure(s): Pregnancies in 1, 3, and >or=6 months.Result(s): A total of 851 women with 2,055 cycles were analyzed. In 489 cycles there was only one episode of intercourse. A total of 601 pregnancies occurred. The conception probabilities from days in relation to ovulation -5 to +1 for a single episode of intercourse were 0.216, 0.102, 0.236, 0.233, 0.388, 0.293, and 0.386, respectively, and for multiple episodes they were 0.254, 0.271, 0.293, 0.365, 0.315, and 0.284, respectively, with the peak value at day -1. Recalculation of the efficacy of emergency contraception with low-dose mifepristone with the present conception probabilities showed higher efficacy.Conclusion(s): Conception probabilities among Chinese women are different from those in the literature. Further comparative studies are needed to confirm an ethnic difference. [ABSTRACT FROM AUTHOR]

Objective: To investigate whether the gene polymorphisms for p21, X-ray repair cross-complementing group 1 (XRCC1), human 8-oxoguanine glycosylase 1 (hOGG1), and dopamine D1 and D2 receptors (DRD1, -2) are associated with leiomyoma susceptibility. Design: Prospective study. Setting: Departments of gynecology and genetics in a medical center. Patient(s): Women were divided into two groups: leiomyoma (n = 120) and nonleiomyoma (n = 112). Intervention(s): The p21 codon 31, XRCC1 codon 399, hOGG1 codon 326, DRD1-48, and DRD2 codon 313 polymorphisms were genotyped by polymerase chain reaction with restriction enzyme digestions (Blp I, MspI, Fnu4HI, Dde I, and NcoI, respectively). Main Outcome Measure(s): Genotypes and allelic frequencies. Result(s): The p21 codon 31∗C- and DRD2 codon 313∗T-related genotypes/alleles were associated with the presence of leiomyomas. The proportions of p21∗CC/CA/AA and DRD2∗CC/CT/TT in both groups were 27.5/68.3/4.2% and 12.5/51.7/35.8% (leiomyoma); and 14.3/51.8/33.9% and 33.9/40.2/25.9% (nonleiomyoma). XRCC1, hOGG1, and DRD1 were not correlated with the presence of leiomyomas. XRCC1∗GG/GA/AA, hOGG1∗TT/TA/AA, and DRD1∗GG/GA/AA were 54.2/37.5/8.3%, 36.7/44.2/19.1%, and 3.3/25.8/70.8% (leiomyoma); and 48.2/47.3/4.5%, 43.6/41/15.4%, and 3.6/25/71.4% (nonleiomyoma). Conclusion(s): The p21 codon 31∗C- and DRD2 codon 313∗T-related genotypes/alleles were associated with the presence of leiomyoma. XRCC1, hOGG1, and DRD1 were not correlated with leiomyoma development. [Copyright &y& Elsevier]

Objective: To investigate whether the DNA repair genes, X-ray repair cross-complementing group 4 (XRCC4) and xeroderma pigmentosum group D (XPD), could be useful markers for predicting leiomyoma susceptibility. Design: Prospective study. Setting: Departments of gynecology and genetics in medical center. Patient(s): Women were divided into leiomyoma (n = 120) and nonleiomyoma groups (n = 112). Intervention(s): XRCC4 (codon 247, promoter −1394, intron 3) and XPD (codon 312, codon 751, promoter −114) polymorphisms were genotyped by polymerase chain reaction with restriction enzyme digestions. Main Outcome Measure(s): Genotypes and allelic frequencies in both groups were compared. Result(s): XRCC4 promoter −1394∗T-related genotype/alleles were associated with higher susceptibility of leiomyoma. Proportions of XRCC4 promoter −1394∗T homozygote/heterozygote/G homozygote and T/G alleles were [1] 91.7%/6.7%/1.7% and 95%/5% and [2] 79.4%/17.9%/2.7% and 88.4%/11.6%, respectively. Five other single nucleotide polymorphisms were not correlated with leiomyoma susceptibilities. Proportions of XRCC4 codon 247∗CC/CA/AA and XRCC4 intron 3∗II/ID/DD were [1] 95%/5%/0% and 72.5%/23.3%/4.2% and [2] 97.3%/2.7%/0 and 70.5%/24.1%/5.4%. Proportions of XPD codon 312∗GG/GA/AA, XPD codon 751∗TT/TG/GG, and XPD promoter –114∗GG/GC/CC were [1] 65%/22.5%/12.5%, 92.5%/6.7%/0.8%, and 22.5%/46.7%/30.8%; and [2] 64.3%/22.3%/13.4%, 92%/7.1%/0.9%, and 23.2%/46.4%/30.4%. Conclusion(s): XRCC4 promoter −1394∗T-related genotype/alleles are associated with higher susceptibility of leiomyoma, whereas XRCC4 codon 247, XRCC4 intron 3, XPD codon 312, XPD codon 751, and XPD promoter −114 polymorphisms are not correlated with its development. [Copyright &y& Elsevier]

Epidermal growth factor receptor (EGFR) is a regulator of angiogenesis and mediator of sex steroid–induced cell growth and differentiation. We observed that EGFR gene 2073*T-related genotypes and allele are associated with higher susceptibilities to endometriosis and leiomyoma. [Copyright &y& Elsevier]

Objective: To investigate the association of endometriosis with estrogen receptor alpha (ERα) and cytochrome P450c17α (CYP17) gene polymorphisms in light of the fact that estrogen plays a role in the pathogenesis of endometriosis and the CYP17 enzyme is involved with estrogen biosynthesis. Design: Prospective study. Setting: Genetics and gynecology units. Patient(s): All patients were divided into two groups: group 1, women with endometriosis (n = 119); group 2, normal controls (n = 108). Intervention(s): A dinucleotide (thymine-adenine [TA]) repeat polymorphism lying upstream of the ERα gene and A1/A2 polymorphism of the CYP17 gene were amplified by polymerase chain reaction, enzyme restriction, and electrophoresis. Main outcome measure(s): The ER genotypes were classified into A through T (TA repeats, 10–29). The CYP17 genotypes included indigestible (A1 homozygote), heterozygote, and digestible (A2 homozygote). We compared these polymorphism distributions in both groups. Result(s): The percentage of genotypes D–G (TA, 13–16) in both groups were 10.5%, 29.4%, 13.0%, and 11.3% in group 1 and 7.9%, 16.7%, 19.9%, and 17.6% in group 2. The genotype E (14 TA repeats) is associated with a higher risk of endometriosis. Proportions of A1 homozygote/heterozygote/A2 homozygote for CYP17 were 26.1%/46.2%/27.7% for group 1 and 14.8%/44.5%/40.7% for group 2, respectively. The A1 homozygote and allele were associated with a higher susceptibility of endometriosis. Conclusion(s): ERα* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility. [Copyright &y& Elsevier]

Tumor necrosis factor-α (TNF-α), a proinflammatory cytokine, plays an important role in the process of autoimmune diseases. p53 is related to the regulation of cell growth and prevention of carcinogenesis. We propose to investigate whether gene polymorphisms for TNF-α-308 promoter and p53 could be used as markers of susceptibility in leiomyomas.Prospective basic study.Departments of gynecology and genetics in a medical center.Group 1: leiomyoma (n = 159); group 2: non-leiomyoma (n = 131).Genomic DNA was obtained from peripheral leukocyte. The TNF-α and p53 gene polymorphisms were amplified by polymerase chain reaction (PCR), enzyme restriction, and electrophoresis.Two gene polymorphisms were identified: [1] the A (cuttable)/G (uncuttable) polymorphisms of the TNF-α gene on chromosome 6p21.3; [2] A (cuttable)/P (uncuttable) polymorphisms of the p53 gene on chromosome 17p. Genotype and allelic frequencies in both groups were compared.Genotype distribution and allele frequency of TNF-α gene polymorphism in both groups were significantly different. Proportions of A homozygote/heterozygote/G homozygote for TNF-α in both groups were: (group 1) 61%/34.6%/4.4% and (group 2) 81.7%/14.5%/3.8%. Proportions of allele A/G for TNF-α in both groups were: (group 1) 78.3%/21.7% and (group 2) 88.9%/11.1%. Distributions of p53 polymorphisms in both groups were not different. The proportions of A homozygotes/heterozygotes/P homozygotes for p53 were (group 1) 32.7%/42.1%/25.2% and (group 2) 28.2%/48.9%/22.9%.G homozygote and G allele for TNF-α promoter are related to a higher risk of leiomyomas. The p53 codon 72 gene polymorphism is not associated with the susceptibility of leiomyomas. [Copyright &y& Elsevier]

: ObjectiveTo evaluate the association between leiomyomas and estrogen receptor gene polymorphism.: DesignProspective study.: SettingDepartment of gynecology and genetics.: Patient(s)Women with (n = 159) or without leiomyomas (n = 131).: Main outcome measure(s)Polymerase chain reaction was used to detect dinucleotide (thymine–adenine [TA]) repeat polymorphisms upstream of the estrogen receptor gene. Genotypes were classified as A through P according to the number of the TA repeats from 12 to 27. Distributions of TA repeat for estrogen receptor in both groups were compared.: Result(s)Genotypes A to E were detected in 10.7%, 18.9%, 15.7%, 16.4%, and 4.4%, respectively, of women with leiomyomas and 4.2%, 9.5%, 20.6%, 19.1%, and 10.3% of women without leiomyomas. Women with genotypes A and B (12 or 13 TA repeats) have a higher risk for leiomyomas, and those with genotype E (16 TA repeats) have a lower risk.: Conclusion(s)Estrogen receptor gene polymorphism probably contributes to the pathogenesis of leiomyoma and may predict the susceptibility to leiomyoma. The 12 and 13 TA repeats are associated with a higher risk of leiomyoma. [Copyright &y& Elsevier]

Interleukin (IL)-2 R-627*C homozygote and C allele are related to higher susceptibility to endometriosis. Interleukin-12R?1 codon 378 and IL-18 105 gene polymorphisms are not correlated with endometriosis development. [Copyright &y& Elsevier]