Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 7 de 7
Filter
Add more filters










Language
Publication year range
1.
Mol Reprod Dev ; 74(7): 808-14, 2007 Jul.
Article in English | MEDLINE | ID: mdl-17186537

ABSTRACT

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: (1) endometriosis (n = 125); (2) leiomyoma (n = 120); (3) 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*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*I/D gene polymorphisms are associated with endometriosis and leiomyoma susceptibilities. ACE*I-related genotypes and allele are strongly related to the occurrence of endometriosis and moderately related to the occurrence of leiomyoma.


Subject(s)
Endometriosis , Genetic Predisposition to Disease , Genotype , Leiomyoma , Peptidyl-Dipeptidase A/metabolism , Polymorphism, Genetic , Endometriosis/enzymology , Endometriosis/genetics , Female , Gene Frequency , Humans , Leiomyoma/enzymology , Leiomyoma/genetics , Peptidyl-Dipeptidase A/genetics , Taiwan
2.
Biochem Genet ; 43(5-6): 203-10, 2005 Jun.
Article in English | MEDLINE | ID: mdl-16144297

ABSTRACT

Transforming growth factor beta (TGF-B) family members are multi-functional cytokines that play a key role in cellular growth, proliferation, and differentiation. The aim of the study was to investigate whether the TGF-B1-509 gene polymorphism could be used as a marker of susceptibility in endometriosis. Women were divided into two groups: endometriosis (n = 150) and non-endometriosis (n = 159). Polymorphisms for TGF-B 1-509 genes were amplified by polymerase chain reaction and detected after restriction enzyme digestion. Genotypes and allelic frequencies in both groups were compared. Genotype proportions and allele frequencies of TGF-B1 gene polymorphisms differed significantly in both groups. Proportions of C homozygote, heterozygote, and T homozygote for TGF-B1 gene polymorphisms were 9.3/61.3/29.4% in the endometriosis group and 41.3158.510% in the non-endometriosis group. Alleles C and T for TGF-B1 gene polymorphism were 40/60% (endometriosis) and 70.8/29.2% (non-endometriosis). Association of endometriosis with TGF-B 1-509 gene polymorphism exists. T homozygote and T allele for TGF-B1 are associated with higher susceptibility to endometriosis.


Subject(s)
Endometriosis/genetics , Genetic Predisposition to Disease , Polymorphism, Genetic , Transforming Growth Factor beta/genetics , Deoxyribonucleases, Type II Site-Specific/metabolism , Female , Gene Frequency , Genotype , Humans , Premenopause , Transforming Growth Factor beta1
3.
Fertil Steril ; 82 Suppl 3: 1177-81, 2004 Oct.
Article in English | MEDLINE | ID: mdl-15474092

ABSTRACT

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.


Subject(s)
Codon/genetics , Genes, p53 , Leiomyoma/genetics , Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Tumor Necrosis Factor-alpha/genetics , Uterine Neoplasms/genetics , Adenine , Alleles , Case-Control Studies , Chromosomes, Human, Pair 17 , Chromosomes, Human, Pair 6 , Female , Gene Frequency , Genetic Markers , Genetic Predisposition to Disease , Genotype , Guanine , Homozygote , Humans , Prospective Studies
4.
J Reprod Med ; 49(6): 468-72, 2004 Jun.
Article in English | MEDLINE | ID: mdl-15283056

ABSTRACT

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.


Subject(s)
5' Untranslated Regions , Endometriosis/genetics , Genetic Predisposition to Disease , Polymorphism, Genetic , Vascular Endothelial Growth Factor A/genetics , Adult , Case-Control Studies , Female , Genotype , Humans , Polymerase Chain Reaction , Premenopause
5.
J Assist Reprod Genet ; 21(12): 453-7, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15704521

ABSTRACT

OBJECTIVE: Androgen receptor (AR) was detected in leiomyoma. AR gene has a polymorphic microsatellite encoding cytosine, adenine, and guanine (CAG) repeats. We aimed to investigate the association between the AR gene CAG repeats and leiomyoma. METHODS: Women were divided into two groups: (1) leiomyoma (n = 159); (2) non- leiomyoma groups (n = 129). Their CAG repeats were detected by polymerase chain reaction. The CAG repeats ranged in length from 168 bp (9 CAG repeats, genotype A) to 234 bp (31 CAG repeats, genotype W). Distributions of CAG repeats in both groups were compared. RESULTS: Genotype proportions of different CAG repeats for AR gene in both groups were significantly different. The genotype S (27 CAG repeats) is associated with higher susceptibility of leiomyoma. Distribution of CAG repeats in both groups appeared mono-peak distributions. Percentages of genotypes K-S (19-27 CAG repeats) in leiomyoma and non-leiomyoma groups were: (1) 5,11,19.5, 10.4, 12.9, 8.8, 7.5, 5.7, 4.4%; (2) 5.4, 14.3,16.7, 12.8, 12.4, 5.8, 9.3, 7,1.2%. CONCLUSIONS: AR trinucleotide polymorphism is associated with leiomyoma susceptibility. The 27 CAG repeats is related with higher risk of leiomyoma.


Subject(s)
Leiomyoma/genetics , Receptors, Androgen/genetics , Trinucleotide Repeats , Uterine Neoplasms/genetics , Adenine/metabolism , Alleles , Cytosine/metabolism , DNA/metabolism , Female , Gene Frequency , Genetic Predisposition to Disease/genetics , Genotype , Guanine/metabolism , Humans , Microsatellite Repeats , Polymerase Chain Reaction , Polymorphism, Genetic , Risk Factors , Taiwan
6.
Genet. mol. biol ; 27(2): 165-166, Jun. 2004. tab
Article in English | LILACS | ID: lil-362896

ABSTRACT

Insulin-like growth factor II (IGF2) has been shown to play a role in abnormal cell growth and carcinogenesis. We investigated if the IGF2 gene Apa I polymorphism at exon 9 was associated with the susceptibility to endometriosis, analyzing 120 women with moderate/severe endometriosis and 103 controls. The genotype frequencies did not differ statistically between the endometriosis (aa = 25.4, ab = 57.4, bb = 17.2 percent) and control (aa = 20.8 ab = 52.8, bb = 26.4 percent) groups. The allele frequencies did not differ either: a = 54.1, b = 45.9 percent among women with endometriosis and a = 47.2, b = 52.8 percent in the control group. Therefore, no indication was found for an association of this polymorphism with endometriosis susceptibility.


Subject(s)
Humans , Female , Adult , Middle Aged , Endometriosis , Insulin-Like Growth Factor II , Alleles , Disease Susceptibility , Polymorphism, Genetic
7.
Fertil Steril ; 79(1): 96-9, 2003 Jan.
Article in English | MEDLINE | ID: mdl-12524070

ABSTRACT

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.


Subject(s)
Dinucleotide Repeats , Genetic Predisposition to Disease , Leiomyoma/genetics , Receptors, Estrogen/genetics , Uterine Neoplasms/genetics , Adenine , Female , Genotype , Humans , Polymerase Chain Reaction , Polymorphism, Genetic , Thymine
SELECTION OF CITATIONS
SEARCH DETAIL
...