Browsing by Author "Chang, Chi-Chen"

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Angiotensin I-Converting enzyme insertion-related genotypes and allele are associated with higher susceptibility of endometriosis and leiomyoma
(2007-07-01)
Hsieh, Yao-Yuan
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Lee, Cheng-Chun
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Chang, Chi-Chen
;
Wang, Yu-Kuo
;
Yeh, Lian-Shun
Endometriosis and leiomyoma display features similar to malignancy, requiring neovascularization to proliferation and growth. Altered vascular-related genes might be related to the development of endometriosis and leiomyoma. Polymorphisms of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) genes have been linked with some vascular diseases. This study investigates whether ACE I/D gene polymorphisms could be used as markers of susceptibility in endometriosis and leiomyoma. Women were divided into three groups: (4) endometriosis (n = 125); (2) leiomyoma (n = 120); () normal controls (n = 128). Genomic DNA was obtained from peripheral leukocyte. ACE I/D gene polymorphisms in intron 16 were amplified by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) Genotypes and allelic frequencies in both groups were compared. We observed the genotype distribution and allele frequency of ACE I/ D gene polymorphisms in both groups were significantly different. Proportions of ACE(star)I homozygote/ heterozygote/D homozygote in both groups were: (1) 50.4/24/25.6%; (2) 25/23.33/51.67%; (3) 10.2/ 29.7/60.1%. Proportions of I/D alleles in each group Were: (1) 62.4/37.6%; (2) 36.7/63.3%; (3) 25/75%. We concluded that ACE(star)I/D gene polymorphisms are associated with endometriosis and leiomyoma suspeptibilities. ACE(star)I-related genotypes and allele are strongly related to the occurrence of endometriosis and moderately related to the occurrence of leiomyoma.
Chromosome 15q21-22-Related Polymorphisms and Haplotypes Are Associated with Susceptibility to Type-2 Diabetic Nonproliferative Retinopathy
(2012-05-01)
Hsieh, Yao-Yuan
;
Huang, Yu-Chuen
;
Chang, Chi-Chen
;
Wang, Yu-Kuo
;
Lin, Wen-Hsin
Objective: Diabetic retinopathy (DR) is a microvascular complication of diabetes with a complex multifactorial pathogenesis. We aimed to investigate whether chromosome 15q21-22-related gene polymorphisms could be used as markers of DR susceptibility in type 2 diabetic (T2D) individuals. Methods: Individuals were divided into three groups: (1) T2D with nonproliferative DR (NPDR; n = 102); (2) T2D with proliferative DR (PDR; n = 72); (3) T2D without DR (n = 573). Six single-nucleotide polymorphisms (SNPs) (rs7174997, rs3751624, rs8025011, rs17818837, rs2922220, and rs2414520) lying within chromosome 15q21-22 region were genotyped by using Illumina HumanHap550-Duo BeadChips. Genotypes/allelic frequencies and haplotypes for these polymorphisms in each group were compared. Results: The MYO5C related SNP (rs3751624)*A related genotype and allele are associated with higher susceptibilities to DR, including PDR and NPDR. The rs3751624*GG/AA + AG percentages in each group are (1) 75.5%/24.5%, (2) 73.6%/26.4%, and (3) 82.5%/17.5%. In contrast, the other five SNPs in each group were not significantly different. One haplotype (G-A-G-G-T-G) appears significantly different between T2D individuals with and without DR. Other haplotype distributions were not significantly different between each group. Conclusion: The MYO5C related SNP (rs3751624)*A related genotype/allele and haplotype (G-A-G-G-T-G) might be associated with susceptibility for retinopathy in T2D individuals. Some chromosome 15q21-22* related genetic variations might contribute to the pathogenesis of DR.
DELETERIOUS EFFECTS OF ARSENIC, BENOMYL AND CARBENDAZIM ON HUMAN ENDOMETRIAL CELL PROLIFERATION IN VITRO
(2010-12-01)
Chang, Chi-Chen
;
Hsieh, Yao-Yuan
;
Hsu, Kung-Hao
;
Tsai, Horng-Der
;
Lin, Wen-Hsin
Objective: We aimed to investigate the effects of arsenic (As), benomyl (Ben), and carbendazim (Carb) on endometrial cells. Materials and Methods: Human endometrial cells were obtained during diagnostic curettage. All cultured endometrial cells were divided into four groups: (1) 0 M (controls), (2) 10(-6)M, (3) 10(-5)M, (4) 10(-4)M for As, Ben and Carb. After 24 and 48 hours in culture, endometrial cell proliferations were assessed by diphenyltetrazolium bromide assay. The influences of different concentrations of As, Ben and Garb upon the endometrium were compared. Results: During the first 24 hours, As, Ben and Garb appeared to have insignificant influences upon endometrial growth. After 48 hours in culture, all three agents significantly inhibited endometrial growth. In As groups, cell absorption after 48 hours culture were 100% (group 1), 82.1% (group 2), 43.6% (group 3) and 35.3% (group 4). In Ben groups, cell absorption was 100% (1), 75.9% (2), 66.4% (3) and 49.6% (4). In the Carb groups, cell absorption was 100% (1), 70.4% (2), 73.0% (3) and 76.7% (4). Conclusion: The agents As, Ben and Carb appear to have inhibitory effects upon endometrial cells after 48 hours in culture. [Taiwan J Obstet Gynecol 2010;49(4):449-454]
Effects of alpha and beta recombinant FSH (Gonal-F, Puregon) and progesterone upon human endometrial cell proliferation in-vitro: a preliminary study
(2011-02-01)
Chang, Chi-Chen
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Hsieh, Yao-Yuan
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Hsu, Kung-Hao
;
Lin, Chih-Sheng
;
生物科技學系
Endometrial proliferation or regeneration during menstrual cycle is regulated by sexual hormones. However, the effect of gonadotrophins on the endometrial cell growth remains obscure. Herein, we aimed to investigate the effects of r-FSH (Gonal-F, Puregon) and progesterone on the proliferation of human endometrial cells in-vitro. According as gonadotrophin concentrations, the follicular-phase endometrial cells were divided into six groups: (1) 0 (controls), (2) 1; (3) 10; (4) 100; (5) 1000; (6) 100,000 mu IU/ml. The cell countings with microscopy and cell proliferation kit assay were used to assess the endometrial cell proliferations. In Gonal-F groups, the cell absorptions (%) after 24/48 h culture were: (1) 100/100; (2) 103.8/102.3; (3) 104.8/102.8; (4) 102.3/101.3; (5) 96.3/94.2; (6) 86.8/84.3. In Puregon groups, the cell absorptions were: (1) 100/100; (2) 102.8/101.9; (3) 103/102.3; (4) 103.9/103.5; (5) 102.9/102.4; (6) 103.7/103.2 (non-different). In progesterone groups, the cell absorptions were: (1) 100/100; (2) 99.1/101.9; (3) 83.5/80.4; (4) 80.7/82.4. Higher dosage of Gonal-F (100,000 mu IU/ml) and progesterone (10, 100 mu g/ml) appeared the significant inhibition upon endometrium. We conclude that lower dosages of Gonal-F, Puregon, and progesterone appear the non-significant influence upon endometrium. Higher dosage of Gonal-F (10,000 mu IU/ml) and progesterone (10, 100 mu g/ml), but not Puregon, might interfere with the endometrial proliferation during follicular phase.
Effects of Diosgenin on Myometrial Matrix Metalloproteinase-2 and-9 Activity and Expression in Ovariectomized Rats
(2011)
Chang, Chi-Chen
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Kuan, Tang-Ching
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Hsieh, Yao-Yuan
;
Ho, Ying-Jui
;
Sun, Yu-Ling
Diosgenin, a traditional Yam extraction, has been used in hormone replacement for menopausal women. We aimed to investigate the influences of diosgenin administration upon the MMP-2 and -9 activity and expression and reproductive hormones of ovariectomized (OVX) rats, a model of menopausal status. Seven-week old female Wistar rats with bilateral OVX or sham operation (controls) were divided and administered different dosages of diosgenin (0, 10, 50, or 100 mg/kg/day) for 8 weeks. Serum was then sampled for progesterone (P4) and estradiol (E2) assay and uterine horns harvested. Myometrial MMP-2 and -9 activity and expression were surveyed and myometrial collagen expression was also assayed. The results show higher body weight in OVX rats across the 8 weeks post surgery and no significant differences were noted among OVX or Sham rats with diosgenin supplements. There were lower P4 and E2 concentrations in OVX rats compared to Sham rats, and higher P4 concentration of Sham rats post diosgenin supplement. MMP-2 and -9 mRNA expression and activity was lower in OVX rats, although higher MMP-2 and lower MMP-9 activity/mRNA expression was observed in OVX rats post diosgenin supplementation. Collagen mRNA expression was higher in OVX rats compared to Sham controls, and diosgenin administration decreased collagen mRNA expression in OVX rats. In conclusion, diosgenin is associated with gelatinase expression and collagen metabolism in OVX rats. Diosgenin administration can partially reverse the effects of OVX upon MMP functions and hormone status. Adequate diosgenin supplement might modulate myometrial gelatinase expression and collagen metabolism in menopausal subjects.
Effects of gonadotropins (Gonal-F and Puregon) on human endometrial cell proliferation in vitro
(2011-03-01)
Chang, Chi-Chen
;
Hsieh, Yao-Yuan
;
Hsu, Kung-Hao
;
Lin, Chih-Sheng
;
生物科技學系
Condensation: Both Gonal-F and Puregon, especially in their high-dosage administration, might inhibit the endometrial cell proliferation in the initial 48-hour culture. After 72-hour culture, Gonal-F persisted the inhibition of the endometrial growth, whereas Puregon reversed its effect to enhance endometrial growth. Objectives: Endometrial proliferation or regeneration during menstrual cycle is regulated by sexual hormones. However, the effect of gonadotropins on the endometrial cell growth remains obscure. Herein, we aimed to investigate the effects of recombinant follicle-stimulating hormones (r-FSHs) (Gonal-F and Puregon) on the proliferation of human endometrial cells in vitro. Materials and Methods: Human endometrial cells (RL95-2 cells) were obtained commercially and cultured in the serum-containing media in the presence of r-FSHs (Gonal-F and Puregon at concentrations of 0 mIU/mL, 200 mIU/mL, 400 mIU/mL, and 600 mIU/mL) up to 72 hours. According to the gonadotropin concentrations, all cultured endometrial cells were divided into four groups: (1) 0 mIU/mL (control); (2) 200 mIU/mL; (3) 400 mIU/mL; and (4) 600 mIU/mL. After 72-hour culture, endometrial cell proliferations were assessed overnight by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay. The influences of different r-FSH agents and dosages on endometrial cell proliferation in each group were evaluated and compared. Results: In the four Gonal-F groups, the cell absorption (control and 200 mIU/mL, 400 mIU/mL, and 600 mIU/mL Gonal-F) after 24/48/72-hour cultures were as follows: (1) 0.57/0.7/0.82; (2) 0.56/0.66/0.78; (3) 0.55/0.64/0.77: and (4) 0.51/0.61/0.78. After 48 hours, higher dosage of Gonal-F appeared to significantly inhibit the endometrial cell proliferation. After 72-hour culture, all three dosages of Gonal-F appeared to inhibit the endometrial cell proliferation similarly. In Puregon groups, the cell absorptions were as follows: (1) 0.62/0.53/0.62; (2) 0.61/0.5/0.66; (3) 0.61/0.49/0.66; and (4) 0.64/0.49/0.66. Puregon administration displayed initial inhibition and subsequent stimulation effects on the endometrial cells. Conclusions: Both Gonal-F and Puregon, especially in their high-dosage administration, appeared to inhibit the endometrial cell proliferation in the initial 48-hour culture. After 72-hour culture, Gonal-F persisted the inhibition of the endometrium, whereas Puregon reversed its effect by enhancing the endometrial growth. The differences might be because of the different formulations or molecular structures existing between alpha and beta follitropins. Copyright (C) 2011, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.
Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm (vol 24, pg 262, 2010)
(2011)
Hsieh, Yao-Yuan
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Lin, Ying-Ju
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Chang, Chi-Chen
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Chen, Da-Yuan
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Hsu, Chin-Mu
Identification of novel peptides specifically binding to endometriosis by screening phage-displaying peptide libraries
(2009-12-01)
Chang, Chi-Chen
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Hsieh, Yao-Yuan
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Wang, Yu-Kuo
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Hsu, Kung-Hao
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Tsai, Horng-Der
Objective: To search for novel peptides and common binding motif that specifically bind to endometriosis. Design: Prospective study. Setting: Department of Biological Science and Technology in national university. Patient(s): Specimens were divided into [1] ectopic endometrium (n = 10); [2] eutopic endometrium (n = 10). Intervention(s): Peptides specifically binding to endometriosis are screened from a phage-displaying peptide library (Ph.D.-12) by using whole-cell screening technique after an adsorption elution amplification procedure. Main Outcome Measure(s): Combinatorial peptide libraries were used to identify small molecules that bind with high affinity to receptor molecules and mimic the interaction with natural ligands. Few pans of positive phage clones with significantly positive signals were identified by ELISA and analyzed by DNA sequencing. Result(s): During the biopanning processes, the recovered phage number (10(6) pfu/mL) in parts 1, 2, 3, 4, and 5 of the study were 9, 33, 82, 142, and 169. Nine phages consistently had residue Arg, whereas six clones had a consensus motif of Arg-X-Arg-X-X-X-X-Arg. The biotin-labeled peptide bound to endometriosis cells in a dose-dependent manner, yet the control peptide revealed lesser binding activity. Conclusion(s): The novel motif is associated with higher affinity of endometriosis, which might be useful in endometriosis targeting and as potential antiendometriosis therapies. We provide one potential approach for novel therapies toward endometriosis. (Fertil Steril (R) 2009;92:1850-5. (C)2009 by American Society for Reproductive Medicine.)
Insulin-like Growth Factors II exon 9 and E-cadherin-Pml I but not Myeloperoxidase Promoter-463, Urokinase-ApaL I nor Xeroderma Pigmentosum Polymorphisms Are Associated with Higher Susceptibility to Leiomyoma
(2010-06-01)
Hsieh, Yao-Yuan
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Chang, Chi-Chen
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Wang, Yu-Kuo
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Hsu, Kung-Hao
;
Chen, Chih-Ping
Objectives: To investigate the roles of insulin-like growth factor II (IGF2), myeloperoxidase (MPO), E-cadherin (CDH1), urokinase and xeroderma pigmentosum group A and D (XPA, XPD) polymorphisms upon leiomyoma susceptibility. Study Design: Women were divided into: group I, leiomyoma (n=158); group 2, non-leiomyoma (n=156). Polymorphisms (IGF2 exon 9*A/G, MPO-463*A/G, CDH1-Pml I, urokinase-ApaL, XPA*A-23G, XPD*Lys751Gln) were amplified by polymerase chain reaction and detected by electrophoresis after restriction enzyme digestion. Genotype and allelic frequencies were compared between both groups. Results: Associations between leiomyoma with IGF2 and CDH1 polymorphism exist. Proportions of IGF2 exon 9*AA/AG/GG in and CDH1* CC/CT/TT in the groups were: group I, 38/39.2/22.8% and 27.8/66.5/5.7%; group 2, 22.4/53.9/23.7% and 21.2/64.1/14.7. MPO, urokinase, XPA and XPD in both groups were non-significantly different. Proportions of MPO*AA/AG/GG, urokinase*CC/CT/TT, XPA*AA/AG/GG and XPD*AA/AC/CC were: group 1: 1.9/23.4/74.7%, 0.6/7/92.4%, 20.9/55.1/24%, 85.4/14.6/0%; group 2: 3.8/24.4/71.8%, 1.3/4.5/94.2%, 22.4/53.9/23.7%, 84.6/15.4/0%. Conclusion: IGF2*A allele and CDH1*C allele were correlated with leiomyoma susceptibility, which may be associated with leiomyoma development. MPO, urokinase, XPA and XPD polymorphisms are not related to leiomyoma susceptibilities.
Interleukin (IL)-12 receptor beta 1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3 '-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma
(2007-04-01)
Hsieh, Yao-Yuan
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Chang, Chi-Chen
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Tsai, Chang-Hai
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Lin, Cheng-Chieh
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Tsai, Fuu-Jen
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-1 beta-511 promoter, IL-1 beta exon 5, IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3'-UTR 2767, IL-12R beta 1 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-12R beta 1 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-1 beta-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-1 beta 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-12R beta 1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1 beta-511 promoter, IL-1 beta 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.
Seminal malondialdehyde concentration but not glutathione peroxidase activity is negatively correlated with seminal concentration and motility
(2006-01-01)
Hsieh, Yao-Yuan
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Chang, Chi-Chen
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Lin, Chich-Sheng
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生物科技學系
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Department of Biological Science and Technology
Objectives: Reactive oxygen species (ROS) induced lipid peroxidation is associated with sperm function. Malondialdehyde (MDA) concentration and glutathione peroxidase (GPx) activity represent the lipid peroxidation and spermicidal antioxidant, respectively. We aimed to evaluate the relationship of MDA and GPx levels with sperm parameters. Patients and methods: Specimens were divided into two groups: group 1. normospermia (n= 20); group 2. oligoasthenospermia (n= 31). Seminal MDA concentration was measured by thiobarbituric acid reaction method. Seminal GPx activity was measured by oxidation of reduced nicotinamide-adenine dinucleotide. Seminal MDA levels and GPx activities in both groups were compared. Results: MDA concentrations in both groups were significantly different (1.52 +/- 0.75 vs. 2.25 +/- 0.88 nM, p = 0.0021). GPx activities in both groups were non-significantly different (0.48 +/- 0.11 vs. 0.47 +/- 0.12 U/ml). MDA levels were negatively correlated with the sperm motility (MDA = -0.014 x motility + 2.62, p = 0.017) and concentration (MDA = -0.0045 x concentration + 2.23, p = 0.0166). GPx activities were positively but non-significantly correlated with the sperm concentration and sperm motility. Conclusions: Seminal MDA concentrations are negatively correlated with sperm concentration and motility, which might provide a simple and useful tool in predicting sperm parameters. GPx activity is non-significantly correlated with the seminal quality. Roles of seminal MDA upon spermatogenesis merits further surveys.
T allele for VEGF-460 gene polymorphism at 5 '-untranslated region is associated with higher susceptibility of leiomyoma
(2008-06-01)
Hsieh, Yao-Yuan
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Chang, Chi-Chen
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Tsai, Fuu-Jen
;
Lin, Cheng-Chieh
;
Tsai, Chang-Hai
Vascular endothelial growth factor (VEGF) is a regulator of angiogenesis and a mediator of sex steroid-induced cell growth and differentiation. We aimed to investigate if VEGF gene 5'-UTR -460 polymorphism could be used as markers of susceptibility in leiomyoma. Women were divided into two groups: (1) leiomyoma (n=159); (2) nonleiomyoma groups (n=131). VEGF gene-460 polymorphism were detected by polymerase chain reaction and BstUI restriction enzyme analysis. Genotypes and allelic frequencies between both groups were compared. We noted that the proportions of different VEGF polymorphisms in both groups were significantly different. Proportions of cuttable (C) homozygote/heterozygote/uncuttable (T) homozygote for VEGF in both groups were: (1) 0/32/68% and (2) 0/63/37%. Higher percentage of T homozygote and T allele presented in the leiomyoma population. Proportions of C/T alleles in both groups were: (1) 16/84% and (2) 32/68%. We concluded that T homozygotes and T allele of VEGF gene-460 polymorphism are associated with higher risk of leiomyoma development. Heterozygotes and C allele are related with lower risk of leiomyoma formation VEGF gene polymorphism likely contributes to the pathogenesis of leiomyoma.
The cuttable C-related genotype and allele for the E-cadherin 3 '-UTR Pml I polymorphism are associated with higher susceptibility to endometriosis
(2005-12-01)
Hsieh, Yao-Yuan
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Chang, Chi-Chen
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Tsai, Fuu-Jen
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Hsu, Chin-Moo
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Lin, Cheng-Chieh
Epithelial cadherin (E-cadherin; CDH1) may influence pericellular proteolysis and intracellular signal transduction, which plays an essential part of tumor invasion. In our study we investigated the correlation between CDH1 gene polymorphism and endometriosis in two groups of pre-menopausal Taiwanese women, group 1 (n = 150) consisting of women with severe stage IV enclometriosis and group 2 (n = 159) of women with no enclometriosis. The polymerase chain reaction (PCR) was used to identify the cuttable (C) and uncuttable (T) polymorphism of the CDH1-Pm/ l gene (rs1801026) located on the T-untranslated region (3'-UTR) of chromosome 16 and compare the genotypes and allelic frequencies of this gene in both groups. We found that the genotype and allele distributions of the CDH1-Pml/ l C/T polymorphism were significantly different in both groups. In group 1 the CDH1*C frequency was 47.7% and the T frequency 52.3%, while the CC homozygote frequency was 6.7%, the TT homozygote 11.3% and the CT heterozygote 82%. In group 2 the CDH1*C frequency was 17% and the T frequency 83%, while the CC frequency was 0.6%, the TT 66.1% and the CT 33.3%. These data indicate that the CDH1 gene polymorphism may be associated with the development of severe endometriosis and that the CDH1 gene C allele is related to higher susceptibility to enclometriosis.
XRCC4 codon 247*A and XRCC4 promoter-1394*T related genotypes but not XRCC4 intron 3 gene polymorphism are associated with higher susceptibility for endometriosis
(2008-05-01)
Hsieh, Yao-Yuan
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Bau, Da-Tian
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Chang, Chi-Chen
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Tsai, Chang-Hai
;
Chen, Chih-Ping
DNA repair systems act to maintain genome integrity in the face of replication errors, environmental insults, and the cumulative effects of age. Genetic variants in DNA repair genes such as X-ray repair cross-complementing group 4 (XRCC4) might influence the ability to repair damaged DNA. Herein we aimed to investigate whether some XRCC4-related polymorphisms were associated with endometriosis susceptibility. Women were divided: (1) severe endometriosis (rAFS stage IV, n = 136) and (2) nonendometriosis groups (n = 112). The polymorphisms of XRCC4 codon 247, XRCC4 promoter - 1394, and XRCC4 intron 3 insertion/deletion (I/D) polymorphism were amplified by PCR and detected by electrophoresis after restriction enzyme (BBS I, Hinc II) digestions. Genotypes and allelic frequencies in both groups were compared. We observed that XRCC4 codon 247*A and XRCC4 promoter - 1394*T related genotypes, but not XRCC4 intron 3 I/D polymorphism, are associated with higher susceptibility for endometriosis. Distributions of XRCC4 codon 247*C homozygote/heterozygote/A homozygote, and C/A allele in both groups were: (1) 89/9.5/1.5% and 93.7/6.3%; (2) 97.3/2.7/0%, and 98.7/1.3% (P < 0.05). Proportions of XRCC4 promoter -1394*T homozygote/heterozygote/G homozygote and T/Gallelein both groups were: (1) 94.1/5.2/0.7% and 96.7/3.3%, and (2) 79.4/17.9/2.7% and 88.4/11.6% (P < 0.005). Proportions of XRCC4*1 homozygote/heterozygote/D homozygote and A/C allele in both groups were: (1) 67.6/30.9/1.5% and 83.2/16.8%, and (2) 70.5/24.1/5.4% and 82.6/17.4% (nondifference). We conclude that XRCC4 codon 247*A and XRCC4 promoter -1394*T related genotypes and alleles, but not XRCC4 intron 3 I/D polymorphism, might be associated with endometriosis susceptibilities and pathogenesis.