XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, and hOGG1 polymorphisms, are associated with higher susceptibility of endometriosis.

X-ray repair cross-complementing group 1 (XRCC1) and human 8-oxoguanine glycosylase 1 (hOGG1) play important roles in base excision repair. KCNQ genes comprising voltage-gated ion-channels related with cell stability. Angiotensin II type 1 receptor (AT1R) is related with angiogenesis, which influence endometriosis growth, invasion and regression. We aimed to investigate whether these polymorphisms were associated with endometriosis susceptibility. Women were divided [ 1 ]: endometriosis (n = 136 [ 2 ]); non-endometriosis groups (n = 112). XRCC1 (codon 107, 194, 399), hOGG1, KCNQ2, AT1R polymorphisms were amplified by PCR and detected by electrophoresis after restriction enzyme (RsaI, HpaII, MspI, Fnu4HI, Ava II, Dde I) digestions. Genotypes and allelic frequencies in both groups were compared. Proportions of XRCC1 Arg399Gln*GG/GA/AA and G/A allele between both groups were [ 1 ]: 41.9/53.7/4.4% and 68.8/31.2% [ 2 ]; 30.4/54.5/15.1% and 57.6/42.4% (p < 0.05). Other 5 polymorphisms (XRCC1 codon 107 and 194, hOGG1, KCNQ2, and AT1R) between both groups were non-significantly different. Proportions of XRCC1 107*AA/AG/GG and XRCC1 194*TT/TC/CC between both groups were [ 1 ]: 3.7/27.2/69.1% and 5.8/34.6/59.6% [ 2 ]; 2.6/21.4/75.8% and 11.6/37.5/50.9%. HOGG1*CC/CG/GG, KCNQ2*AA/AC/CCC and AT1R*AA/AC/CC were [ 1 ]: 14.8/42.6/42.6, 14/41.9/44.1 and 92.6/7.4/0% [ 2 ]; 11.6/50/38.4, 17/50/33 and 100/0/0%. We concluded that XRCC1 399 Arg-related genotype and allele are correlated with higher susceptibility to endometriosis, which suggested its association with endometriosis pathogenesis. XRCC1 107 and 194, hOGG1, KCNQ2, and AT1R are not associated with endometriosis susceptibility.

Effects of α and ß recombinant FSH (Gonal-F, Puregon) and progesterone upon human endometrial cell proliferation in-vitro: a preliminary study.

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 µIU/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 µIU/ml) and progesterone (10, 100 µg/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 µIU/ml) and progesterone (10, 100 µg/ml), but not Puregon, might interfere with the endometrial proliferation during follicular phase.

Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.

CAPSULE: HLA-B associated transcript (BAT) 2, 3, and 5 polymorphisms and haplotypes are associated with Kawasaki disease (KD) and coronary artery aneurysm (CAA) formations. OBJECTIVE: KD, an acute vasculitis with unknown etiology, involves a complex interaction of immuno-inflammatory process, cytokines activation, and genetic factors. We aimed to investigate if genetic variants of human lymphocyte antigen (HLA)-BAT2, 3, and 5 (BAT2, 3, and 5) could be used as markers of susceptibility in KD and CAA. METHODS: Individuals were divided into three groups: (1) normal controls; (2) KD with CAA; and (3) KD without CAA. Polymorphisms for BAT2 (-8671, 16483), BAT3 (8854, 2-24), and BAT5 (22655, 9569) were genotyped by PCR system with TaqMan allelic discrimination assay. Genotype/allelic frequencies and haplotypes (BAT2(-8671)-BAT2(16483)-BAT3(8854)-BAT3(2-24)-BAT5(22655)-BAT5(9569)) in each group were compared. RESULTS: Genotype distribution and allele frequency of BAT2 -8671, BAT3 8854, and BAT5 22655, 9569 polymorphisms in each group were significantly different. BAT2 -8671*G, BAT3 8854*C, BAT5 22655*C, and 9569*A-related genotypes and alleles are correlated with the developments of KD and CAA. BAT haplotypes of ATTGTG and ATCATG are associated with higher susceptibilities of KD with CAA susceptibility. CONCLUSION: BAT2 -8671, BAT3 8854, and BAT5 22655, 9569 polymorphisms as well as BAT haplotypes (ATTGTG and ATCATG) might be associated with higher KD susceptibility and CAA formation. HLA-B region polymorphisms might contribute to the pathogenesis of KD and CAA.

Mitochondria DNA deletion and copy numbers of cumulus cells associated with in vitro fertilization outcomes.

OBJECTIVE: Mitochondria are important organelles in cell biology. We aimed to study the effects of mitochondrial DNA variations in cumulus cells (CCs) upon in vitro fertilization and embryo transfer (IVF-ET) outcomes. STUDY DESIGN: A total of 51 women undergoing IVF-ET were recruited for the study. The CCs were collected during oocyte retrievals. Mitochondria DNA 4977-bp deletion (dmtDNA-delta5Kb) and copy numbers (MCN) of CCs were analyzed by polymerase chain reaction. The relationships of dmtDNA-delta5Kb and MCN with patients' age, embryo qualities and pregnancy rates (PRs) were detected and compared. RESULTS: PRs were positively correlated with younger age, better transferred embryo qualities and lower dmtDNA-delta5Kb ratios in CCs. The dmtDNA-delta5Kb status was positively associated with older age and higher MCN but was not associated with embryo morphologic scoring. The dmtDNA-delta5Kb ratios of transferred embryos in pregnancy and nonpregnancy groups were 0% and 10.4%, respectively. The dmtDNA-delta5Kb in > or = 34-year-old and <34-year-old groups were 6.9% and 3.2%, respectively. CONCLUSION: The dmtDNA-delta5Kb and MCN statuses of CCs are negatively associated with PRs, which might be potential tools for oocyte evaluation and embryo selections during IVF-ET.

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.

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/G allele in 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*I 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.

Polymorphism of XRCC1 codon arg 399 Gln is associated with higher susceptibility to endometriosis.

Endometriosis shows some characteristics of malignancy, including local invasion and aggressive spread to distant organs. The pathology of endometriosis may involve a complex interaction among genetic defects, DNA repairing defects and environmental factors. Since DNA repair capacity is closely related to the sustaining of the genomic stability, an XRCC1 Arg399Gln polymorphism was performed to evaluate the possible association with endometriosis in this paper. Recruited adult females were divided into two groups: endometriosis group (n = 141) and non-endometriosis group (n = 100). Genomic DNA was obtained from their peripheral leukocytes. DNA fragment coding XRCC1 Arg399Gln polymorphism was amplified by PCR and subsequently digested with MspI, and then the genotypes and allelic frequencies in both groups were compared. The genotype distribution and allelic frequency of XRCC1 Arg399Gln polymorphism was significantly different (P < 0.05). The partition of the "GG" homozygote in the patient group was greater than that in the control group, which means that for those people with more G allele, they will have higher risk for endometriosis. We concluded that XRCC1 Arg399Gln polymorphism is associated with higher susceptibility to endometriosis and XRCC1 Arg399Gln polymorphism might be a useful biomarker for endometriosis.

Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis.

OBJECTIVE: To investigate the association of endometriosis with estrogen receptor alpha (ER alpha) and cytochrome P450c17alpha (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 ER alpha 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): ER alpha* 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.

T homozygote and allele of epidermal growth factor receptor 2073 gene polymorphism are associated with higher susceptibility to endometriosis and leiomyomas.

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.

Polymorphisms for interleukin 1 beta exon 5 and interleukin 1 receptor antagonist in Taiwanese children with febrile convulsions.

OBJECTIVE: To investigate whether interleukin 1 beta (IL-1 beta) exon 5 and IL-1 receptor antagonist (IL-1Ra) gene polymorphisms can be used as markers of susceptibility to febrile convulsions in children. METHODS: Children were divided into 2 groups: those with febrile convulsions (group 1; n = 51) and normal control subjects (group 2; n = 83). Polymorphisms for IL-1 beta exon 5 and IL-1Ra gene polymorphisms were detected by polymerase chain reaction. Genotypes and allelic frequencies for IL-1 beta exon 5 and IL-1Ra gene polymorphisms in both groups were compared. RESULTS: Genotype and allele frequencies for IL-1 beta exon 5 in both groups were not significantly different. Proportions of E1 homozygotes and E1/E2 heterozygotes for IL-1 beta exon 5 were 50 (98.1%) and 1 (1.9%), respectively, in group 1 and 82 (98.8%) and 1 (1.2%), respectively, in group 2. Frequencies of alleles E1 and E2 for IL-1 beta exon 5 were 101 (99.0%) and 1 (1.0%), respectively, in group 1 and 165 (99.4%) and 1 (0.6%), respectively, in group 2. Genotype proportions and allele frequencies for IL-1Ra between groups were significantly different. Proportions of genotypes I/I and I/II for IL-1Ra were 49 (96.1%) and 2 (3.9%) in group 1 and 69 (83.1%) and 14 (16.9%) in group 2. Frequencies of alleles I and II for IL-1Ra were 100 (98.0%) and 2 (2.0%) in group 1 and 152 (91.6%) and 14 (8.4%) in group 2. CONCLUSIONS: The IL-1Ra allele I is associated with a higher susceptibility to febrile convulsion, which may become a useful marker for predicting the development of febrile convulsions. The IL-1 beta exon 5 gene polymorphisms are not a useful marker for predicting the susceptibility to febrile convulsions.

Gene transfections with p53 and p21 inhibit cell proliferation, collagen type I, leukemia inhibitory factor, and tumor necrosis factor-alpha expression in leiomyoma cells.

OBJECTIVE: To transfect the p53 and p21 gene into the leiomyoma cells isolated from patients and observe their influence on the cell proliferation, leukemia inhibitory factor production, and gene expression of collagen type I as well as tumor necrosis factor-alpha (TNF-alpha) of cultured cells. DESIGN: Prospective study. SETTING: An assisted reproductive technology (ART) and genetic unit of a medical center. PATIENT(S): Leiomyoma cells isolated from leiomyoma tissue of 12 patients were divided into three groups: [1]. vehicle DNA, [2]. p53 gene, and [3]. p21 gene transfections. INTERVENTION(S): The pcDNA3.1 was used as vector to carry p53 and p21 genes for transfer. After gene transfection, RNAs of the leiomyoma cells were extracted for further analyses of gene expression. MAIN OUTCOME MEASURE(S): Relative cell numbers were determined by 3-(4,5-dimethylthiazol-2-yl)2,5-diphenyl tetrazolium bromide (MTT) assay. The leukemia inhibitory factor (LIF) concentration was determined with ELISA. Gene expressions of collagen type I and TNF-alpha were detected by reverse transcriptase-polymerase chain reaction (RT-PCR). Gene expression of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) was used as an internal control. The cell proliferation, LIF production, as well as gene expressions of collagen type I and TNF-alpha in each group were compared. RESULTS: Relative cell numbers (%)/LIF production (in picograms per milliliter) in each group were: [1]. 100/58, [2]. 71/43, and [3]. 106/65. The ratios of gene expression of collagen type I/TNF-alpha with GAPDH in each group were: [1]. 1.64/0.335, [2]. 1.25/0.434, and [3]. 1.77/0.234. CONCLUSION(S): Transfection with p53 significantly inhibits proliferation of leiomyoma cells and decreases collagen type I gene expression and LIF production. The p21 transfection inhibits TNF-alpha gene expression.

Tumor necrosis factor-alpha-308 promoter and p53 codon 72 gene polymorphisms in women with leiomyomas.

OBJECTIVE: Tumor necrosis factor-alpha (TNF-alpha), 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-alpha-308 promoter and p53 could be used as markers of susceptibility in leiomyomas. DESIGN: Prospective basic study. SETTING: Departments of gynecology and genetics in a medical center. PATIENT(S): Group 1: leiomyoma (n = 159); group 2: non-leiomyoma (n = 131). INTERVENTION(S): Genomic DNA was obtained from peripheral leukocyte. The TNF-alpha and p53 gene polymorphisms were amplified by polymerase chain reaction (PCR), enzyme restriction, and electrophoresis. MAIN OUTCOME MEASURE(S): Two gene polymorphisms were identified: [1] the A (cuttable)/G (uncuttable) polymorphisms of the TNF-alpha 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. RESULT(S): Genotype distribution and allele frequency of TNF-alpha gene polymorphism in both groups were significantly different. Proportions of A homozygote/heterozygote/G homozygote for TNF-alpha 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-alpha 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%. CONCLUSION(S): G homozygote and G allele for TNF-alpha promoter are related to a higher risk of leiomyomas. The p53 codon 72 gene polymorphism is not associated with the susceptibility of leiomyomas.

The proline form of p53 codon 72 polymorphism is associated with endometriosis.

OBJECTIVE: To evaluate the association between endometriosis and the p53 polymorphism. DESIGN: Prospective study. SETTING: Department of gynecology and genetics in a medical center. PATIENT(S): Women with and without endometriosis. INTERVENTION(S): Women were categorized as having moderate or severe endometriosis (n = 118) or no endometriosis (n = 140). MAIN OUTCOME MEASURE(S): Polymerase chain reaction was used to detect p53 codon 72 polymorphisms (arginine homozygosity, heterozygosity, and proline homozygosity). Associations between endometriosis and p53 polymorphisms were evaluated. RESULT(S): The distributions of different p53 polymorphisms differed significantly between groups. The respective proportions of arginine homozygotes, heterozygotes, and proline homozygotes were 10.2%, 66.9%, and 22.9% in the group with endometriosis and 30.7%, 50%, and 19.3% in the group without endometriosis. CONCLUSION(S): Endometriosis is associated with p53 polymorphism. p53 arginine homozygotes have lower risk for endometriosis. Heterozygotes and proline homozygotes have higher risk for endometriosis.

Laser-assisted hatching of embryos is better than the chemical method for enhancing the pregnancy rate in women with advanced age.

OBJECTIVE: Assisted hatching may enhance embryo implantation. This study was conducted to examine the efficacy of the laser- and chemical-assisted hatching for promotion of implantation (IR), pregnancy (PR), and delivery rate (DR) in older women undergoing IVF cycles. DESIGN: Prospective study. SETTING: An IVF unit of a medical center. PATIENT(S): A total of 601 embryos from 141 women aged > or =38 years underwent controlled ovarian hyperstimulation (COH) and assisted hatching. INTERVENTION(S): The study population was divided into two groups: group 1 had laser-assisted hatching (n = 85) and group 2 had chemical-assisted hatching (n = 56). Before the transfer, the day 3 embryos were hatched by using a 1.48-microm noncontact diode laser or acid Tyrode's solution. MAIN OUTCOME MEASUREMENT(S): The IR, PR, and DR between the groups were compared. RESULT(S): There were no statistical differences between groups in age, E2 concentrations during hCG administration, gonadotrophin dosage, embryo grade, the numbers of oocytes retrieved, oocytes fertilized, and embryos transferred. Higher IR, PR, and DR were noted in the laser-assisted hatching group. The IR, PR, and DR were: group 1, 8.2%/31.8%/24.7% and group 2, 3.8%/16.1%/10.7%, respectively. CONCLUSION(S): Laser-assisted hatching of embryos is more effective than the chemical method in enhancing the IR and PR of women with advanced age. The laser system allows an easier, faster, and safer micromanipulation of the zona pellucida, which provided a better method in zona drilling.

Estrogen receptor thymine-adenine dinucleotide repeat polymorphism is associated with susceptibility to leiomyoma.

OBJECTIVE: To evaluate the association between leiomyomas and estrogen receptor gene polymorphism. DESIGN: Prospective study. SETTING: Department 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.

Prognostic significance of the proline form of p53 codon 72 polymorphism in nasopharyngeal carcinoma.

OBJECTIVES/ HYPOTHESIS: An important tumor suppressor gene, p53, plays a role in the regulation of cell progression and prevention of carcinogenesis. Mutated p53 is related to cell progression and malignancy. We aimed to evaluate the association between nasopharyngeal carcinoma and p53 polymorphism. STUDY DESIGN: Case control study. METHODS: All individuals were divided into two groups: nasopharyngeal carcinoma (n = 50) and non-nasopharyngeal carcinoma groups (n = 59). Their p53 codon 72 polymorphisms (arginine [Arg] homozygotes, heterozygotes, proline [Pro] homozygotes) were detected by polymerase chain reaction. Associations between nasopharyngeal carcinoma and p53 polymorphism were evaluated. RESULTS: Distributions of various p53 polymorphisms significantly differed between the two groups. We noted a dominant presentation of Pro homozygotes in the nasopharyngeal carcinoma population over that in the non-nasopharyngeal carcinoma population. Proportions of Pro homozygotes and heterozygotes and Arg homozygotes were 32%, 28%, and 40% in the nasopharyngeal carcinoma population and were 13.5%, 44.1%, and 42.4% in the non-nasopharyngeal carcinoma population, respectively. CONCLUSIONS: An association exists between nasopharyngeal carcinoma and p53 codon 72 polymorphism. The p53 Pro homozygotes are to a higher risk of development of nasopharyngeal carcinoma.

Interleukin-4 intron 3 polymorphism is not related to susceptibility to febrile seizures.

Interleukin-4 (IL-4) is a cytokine with anti-inflammatory properties. This study was undertaken to investigate whether IL-4 intron 3 gene polymorphism could be used as markers of susceptibility to febrile seizures and epilepsy of children. Children were divided into three groups: group 1, febrile seizures (n = 51); group 2, epilepsy (n = 43); and group 3, normal control group (n = 83). Polymorphisms for IL-4 intron 3 were detected by polymerase chain reaction. Genotypes and allelic frequencies for IL-4 intron 3 gene polymorphism in three groups were compared. We found that proportions of different IL-4 intron 3 polymorphisms in three groups were nonsignificantly different. Proportions of RP1 homozygote/heterozygote/RP2 homozygote for IL-4 intron 3 in three groups were as follows: group 1, 56.9/41.2/1.9%; group 2, 62.8/32.6/4.6%; and group 3, 62.7/33.7/3.6%. The proportion of RP1/RP2 for IL-4 intron 3 in three groups were as follows: group 1, 77.5/22.5%, group 2, 79.1/20.9%, and group 3, 79.5/20.5%. We concluded that the association of IL-4 polymorphisms with febrile seizures and epilepsy of children does not exist. IL-4 intron 3 polymorphism is not a useful marker for prediction of the susceptibility of febrile seizure and epilepsy of children.

T allele for VEGF gene-460 polymorphism at the 5'-untranslated region: association with a higher susceptibility to endometriosis.

OBJECTIVE: To investigate whether vascular endothelial growth factor (VEGF) gene 5'-UTR-460 polymorphism could be used as a marker of susceptibility to endometriosis. STUDY DESIGN: Women were divided into 2 groups, endometriosis (n = 122) and nonendometriosis (n = 131). Polymorphisms for VEGF were detected by polymerase chain reaction and BstUI (New England Biolabs, Beverly, Massachusetts) restriction enzyme analysis. Genotypes and allelic frequencies between the groups were compared. RESULTS: Proportions of different VEGF polymorphisms in the groups were significantly different. Proportions of cuttable (C) homozygote/heterozygote/ uncuttable (T) homozygotefor VEGF in the groups were 0/44.3/55.7% and 0/63.4/36.6%, respectively. A higher percentage of T/F homozygote and T allele was present in the endometriosis population. The proportions of C/T alleles in the groups were 22.1/77.9% and 31.7/68.3%, respectively. CONCLUSION: T/T homozygotes and the T allele of the VEGF-460 gene are associated with a higher risk of endometriosis. Heterozygotes and C allele are related to the lower risk of endometriosis formation. VEGF polymorphism likely contributes to the pathogenesis of endometriosis and may become a useful markerfor predicting endometriosis susceptibility.

Association of an A allele for interleukin-10 -627 gene promoter polymorphism with higher susceptibility to endometriosis.

OBJECTIVE: To investigate whether interleukin-10 (IL-10) -627 gene promoter polymorphism could be used as a marker of susceptibility to endometriosis. STUDY DESIGN: Women were divided into 2 groups, endometriosis (n = 130) and nonendometriosis (n = 133). Polymorphisms for IL-10 -627 gene promoter were amplified by polymerase chain reaction and detected after restriction enzyme digestion. Genotypes and allelic frequencies in both groups were compared. RESULTS: Genotype proportions of different IL-10 gene polymorphisms in both groups were not significantly different. Proportions of A homozygote/heterozygote/T homozygote for IL-10 gene polymorphisms in both groups were 50%/40%/10% and 42.1%/38.4%/19.5%. In contrast, allele frequencies for IL-10 gene polymorphism between both groups were significantly different. Alleles A and C for IL-10 gene promoter polymorphism in the groups were 70%/30% and 61.3%/38.7%. A allele was associated with higher susceptibility to endometriosis. CONCLUSION: An association between endometriosis and IL-10 gene promoter polymorphism exists, and the IL-10 -627 A allele is related to a higher susceptibility to endometriosis.

Cytochrome P450c17alpha 5'-untranslated region *T/C polymorphism in endometriosis.

Estrogen plays a role in the pathogenesis of endometriosis. The CYP17 gene codes for the cytochrome P450c17alpha enzyme that is involved in the estrogen biosynthesis. We aimed to investigate if CYP17 polymorphism could be used as marker to predict the susceptibility of endometriosis. Women were divided into two groups: (1) severe endometriosis (n=119); (2) non-endometriosis groups (n=128). A 169-bp fragment encompassing the T/C polymorphic site in 5'-untranslated promoter region (5'-UTR) of the CYP17 was amplified by the polymerase chain reaction, treated with restriction enzyme MspA1I, and electrophoresis. The polymorphism was divided into restriction-enzyme indigestible (T homozygote), T/C heterozygote, and digestible (C homozygote). Genotypes and allelic frequencies for this polymorphism in both groups were compared. We observed a higher but non-significant percentage of T homozygote in the endometriosis women compared with the non-endometriosis women. Proportions of T homozygote / heterozygote / C homozygote for CYP17 in both groups were: (1) 26.1/46.2/27.7% and (2) 17.2/45.3/37.5% (p-value=0.131). T allele was related with higher susceptibility of endometriosis. T and C allele frequencies in both groups were: (1) 49.2/50.8%; (2) 39.8/60.2% (p-value=0.046). Despite the CYP17* T allele appearing to be associated with a trend of increased risk of endometriosis, CYP17 5'-UTR gene polymorphism might not be a useful marker for prediction of endometriosis susceptibility.

Antihyperlipidemic and Antioxidant Effects of C-phycocyanin in Golden Syrian Hamsters Fed with a Hypercholesterolemic Diet.

Hyperlipidemia and oxidation play major roles upon cardiovascular diseases (CVDs). C-phycocyanin (CPC), the major component in blue-green algae, possesses antiinflammatory and radical scavenging properties. Herein we aimed to investigate the effect of CPC upon lipid metabolism and its antioxidant effects. Golden Syrian hamsters were randomly assigned to five groups: (1) control; (2) 0.2% cholesterol; (3) 0.2% cholesterol+ 1% lopid; (4) 0.2% cholesterol+ 0.25% CPC; and (5) 0.2% cholesterol+ 1.25% CPC. All animals were sacrificed after 8-week feeding. Serum cholesterol, triglyceride (TG), low-density lipoprotein (LDL), glutamate-oxaloacetate transaminase (GOT), and glutamate-pyruvate transaminase (GPT) were examined. The diene conjugation in the Cu(2+)-mediated oxidation of LDL was measured. The protein levels of several antioxidative enzymes including catalase (CAT), superoxide dismutases (SOD), and glutathione peroxidase (GPx) of liver were assayed. HepG2 cells were cultured in medium containing various concentrations of CPC (0, 1, 15, and 30 µM). The mRNA concentrations of LDL receptor, 3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) reductase, SOD-1 and GPx of HepG2 cells in each group were analyzed. CPC was effective in lowering serum cholesterol, total cholesterol (TC), TG, LDL, GOT, and GPT. CPC was found to decrease the malondialdehyde (MDA) equivalents and delay the diene conjugation in the Cu(2+)-mediated oxidation of LDL. CPC increase the enzyme expressions of CAT, SOD, and GPx. CPC concentrations were positively correlated with the mRNA level of LDL receptor while the mRNA levels of HMG CoA reductase, SOD-1, and GPx in HepG2 cells were not affected. The lipid-lowering and antioxidation effects of CPC suggest its roles in prevention of CVD and atherosclerotic formation.