ABSTRACT
OBJECTIVE: To explore the association of the CYP19 gene polymorphism with the risk of endometriosis. METHODS: Two hundred seventy-nine women with surgically or histologically diagnosed endometriosis of stages I-IV (ASRM, 1997) were recruited, and two hundred eighteen patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. We analysed the frequency and distribution of a TTTA repeat polymorphism and a 3 bp insertion (I)/deletion (D) polymorphism in intron 4 of the CYP19 gene. RESULTS: Six alleles of the CYP19 gene tetranucleotide repeat polymorphism were found in subjects: from 7 repeats to 13 repeats except 9 repeats. There was no statistically significant difference in the allele distribution of tetranucleotide repeat polymorphism in intron 4 of the CYP19 gene between patients with endometriosis and controls. Also there was no statistically significant difference in the 3 bp insertion (I)/deletion (D) polymorphism in intron 4 of the CYP19 gene between patients with endometriosis and controls. CONCLUSION: These results suggest that tetranucleotide repeat polymorphism and a 3 bp insertion (I)/deletion (D) polymorphism of the CYP19 gene are not associated with the risk endometriosis in the Korean population.
Subject(s)
Female , Humans , Alleles , Aromatase , Endometriosis , Introns , Laparoscopy , Laparotomy , Microsatellite RepeatsABSTRACT
OBJECTIVE: To explore the association of the CYP 1A1 gene polymorphism with the risk of endometriosis in a Korean population. DESIGN: Case-control study METHODS: Two-hundred fifty two Korean women with surgically or histologically diagnosed endometriosis of stage I-IV (ASRM, 1997) were recruited, and 203 women with no evidence of endometriosis served as controls. CYP1A1 gene MspI polymorphism was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis. RESULTS: There was no significant difference in the genotype or allele distribution of CYP1A1 gene polymorphism between patients with endometriosis and controls. And when classified by stage, there was also no significant difference in the genotype and allele distribution of CYP1A1 gene MspI polymorphism between patients with stage I-II or stage III-IV endometriosis and controls. CONCLUSION: These results suggest that CYP1A1 gene MspI polymorphism is not associated with the risk of endometriosis in the Korean women.
Subject(s)
Female , Humans , Alleles , Case-Control Studies , Cytochrome P-450 CYP1A1 , Endometriosis , Genotype , Polymerase Chain Reaction , Polymorphism, Restriction Fragment LengthABSTRACT
OBJECTIVE: To explore the association of the estrogen receptor dinucleotide repeat polymorphism with the risk of endometriosis. DESIGN: Case-control study. METHODS: One hundred fifty-one women with surgically or histologically diagnosed endometriosis of stages I-IV (ASRM, 1997) were recruited, and 137 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Dinucleotide repeat polymorphism of the estrogen receptor gene was assessed by fluorescent PCR with gene scan analysis. Allele frequencies of dinucleotide repeat polymorphism of the estrogen receptor gene were evaluated. RESULTS: Fifteen alleles of the estrogen receptor dinucleotide repeat polymorphism were found in subjects: from 12 repeats to 27 repeats except 26 repeats. There was no statistically significant difference in the allele distribution of dinucleotide repeat polymorphism between patients with endometriosis and controls. However, patients with stage I or II endometriosis (n=51) showed a higher incidence of alleles with fewer (TA)n repeats (12-15 repeats) compared with controls (67.6% vs 52.9%, p=0.010, odds ratio=1.860). CONCLUSION: These results suggest that dinucleotide repeat polymorphism of the estrogen receptor gene is associated with the risk of minimal or mild endometriosis in the Korean population.
Subject(s)
Female , Humans , Alleles , Case-Control Studies , Dinucleotide Repeats , Endometriosis , Estrogens , Gene Frequency , Incidence , Laparoscopy , Laparotomy , Polymerase Chain ReactionABSTRACT
OBJECTIVE: To explore the association of p53 codon 72 polymorphism with endometriosis. METHODS: Two hundred seventy-one women with surgically or histologically diagnosed edometriosis of stage I-IV, and 219 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Allele frequencies and genotype distribution of p53 polymorphisms (arginine homozygosity, heterozygosity, and proline homozygosity) in affected women and controls were evaluated. RESULTS: The genotype distributions of p53 codon 72 polymorphisms did not differ significantly between endometriosis group and control group (p=0.086). However, the genotype distributions of p53 codon 72 polymorphisms differ significantly between stage I-II endometriosis group and control group (p=0.043). Proline homozygotes had higher risk for stage I-II endometriosis compared to arginine homozygotes (odds ratio=2.75, p=0.013). CONCLUSION: These results suggest that proline homozygote of p53 codon 72 polymorphism is associated with the risk of minimal or mild stage of endometriosis in the Korean population.
Subject(s)
Female , Humans , Arginine , Codon , Endometriosis , Gene Frequency , Genotype , Homozygote , Laparoscopy , Laparotomy , ProlineABSTRACT
OBJECTIVE: To explore the association of the N-acetyl transferase 2 (NAT 2) gene polymorphisms with endometriosis. METHODS: One hundred seventy-two women with surgically or histologically diagnosed endometriosis of stages I-IV, and 205 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Genotype distribution of NAT 2 polymorphisms and frequencies of slow and fast acetylators in affected women and controls were evaluated. RESULTS: There was no statistically significant difference in the genotype distribution of NAT 2 polymorphisms and frequencies of slow and fast acetylators between the patients with endometriosis and the controls. CONCLUSION: These results suggest that N-acetyl transferase 2 gene polymorphisms is not associated with the risk for endometriosis in the Korean population.
Subject(s)
Female , Humans , Endometriosis , Genotype , Laparoscopy , Laparotomy , TransferasesABSTRACT
Existence of Y derived chromosome in Turner patients is significant due to the risk of gonadoblastoma development, but cytogenetic analysis may fail to detect low levels of Y chromosomal materials. Recent studies using PCR based methods showed higher sensitivity to detect Y-specific sequences, in patients who were Y chromosome-negative cytogenetically. In this study PCR was performed on 44 Turner patients with no Y chromosome by cytogenetic analysis to detect the SRY, AMELY, ZFY, and DYZ1 sequences. Of seven patients whose karyotypes were 45,X/46,X,+mar, three patients were positive for SRY, ZFY, and AMELY. DYZ1 sequences was negative in them. And any of SRY, ZFY, AMELY, and DYZ1 sequences was detected in the remaining 37 patients. This result shows that PCR analysis for Y-specific sequences in Turner patients, especially in patients who have marker chromosome is a significant effort.