-1195 A/G promoter variants of the cyclooxygenase-2 gene increases the risk of pain occurrence in endometriotic women

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The -1195 A/G polymorphism in the COX-2 gene promoter is associated with an increased risk of pain in women with endometriosis.

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This study evaluated whether the -1195 A/G polymorphism in the cyclooxygenase-2 (COX-2) promoter region is associated with endometriosis and pain in a Chinese population. Using PCR-RFLP, the authors compared 32 women with endometriosis who had pain, 28 women with endometriosis without pain, and 29 healthy controls, and found that AA homozygote carriers and A allele frequencies were significantly higher in endometriosis patients than in controls. In subgroup analysis, the AA genotype and A allele were more frequent in the severe pain group than in mild/moderate groups, and the presence of an -1195 AA-containing haplotype was associated with higher risk of endometriosis (2.86-fold) and pain in endometriosis (2.33-fold). The paper’s main limitation is the small sample size, which restricts generalizability. This paper is centrally about endometriosis — it tests COX-2 promoter -1195 A/G variants as risk factors for pain occurrence and severity in women with endometriosis.

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Abstract

OBJECTIVE: The aim of this study was to evaluate the association between -1195 A/G polymorphism in cyclooxygenase-2 (COX-2) gene and the risk of pain occurrence in women with endometriosis (EM). MATERIALS AND METHODS: -1195 A/G polymorphism in the promoter region of COX-2 gene was analyzed in 32 EM patients with pain, 28 EM patients without pain, and 29 healthy controls in a Chinese population using a PCR-RFLP assay. RESULTS: AA homozygote carriers and A allelic frequencies for -1195 A/G polymorphism in COX-2 gene were significantly increased in EM patients compared with the healthy controls (p < 0.001). In addition, further subgroup analysis revealed that the AA genotype and A allele of the -1195 A/G variant were present at a significantly higher frequency in the severe pain group than those in the mild and moderate pain groups. Compared with the controls, the risk of developing EM was 2.86-fold higher in individuals with -1195 AA containing the haplotype, and the risk of developing pain was 2.33-fold higher in EM patients with -1195 AA containing the haplotype. CONCLUSIONS: These findings suggest that the -1195 A/G on the promoter region of COX-2 gene may increase the risk of pain occurrence in EM women, possibly by affecting the rate of gene expression, especially in patients with the pain phenotype.
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Abstract

Objective: The aim of this study was to evaluate the association between -1195 A/G polymorphism in cyclooxygenase -2 (COX-2) gene and the risk of pain occurrence in women with endometriosis (EM). Materials and Methods: -1195 A/G polymorphism in the promoter region of COX-2 gene was analyzed in 32 EM patients with pain, 28 EM patients without pain, and 29 healthy controls in a Chinese population using a PCR-RFLP assay. Results: AA homozygote carriers and A allelic frequencies for -1195 A/G polymorphism in COX-2 gene were significantly increased in EM patients compared with the healthy controls (p < 0.001). In addition, further subgroup analysis revealed that the AA genotype and A allele of the -1195 A/G variant were present at a significantly higher frequency in the severe pain group than those in the mild and moderate pain groups. Compared with the controls, the risk of developing EM was 2.86-fold higher in individuals with -1195 AA containing the haplotype, and the risk of developing pain was 2.33-fold higher in EM patients with -1195 AA containing the haplotype. Conclusions: These findings suggest that the -1195 A/G on the promoter region of COX-2 gene may increase the risk of pain occurrence in EM women, possibly by affecting the rate of gene expression, especially in patients with the pain phenotype.

Keywords

- Endometriosis - Pain - Cyclooxygenase-2 - Single nucleotide polymorphism

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Cyclooxygenase 2 Endometriosis Ovarian Diseases Pain Adult Asian People Asian People Biological Assay Case-Control Studies Cyclooxygenase 2 Endometriosis Endometriosis Female Gene Expression Gene Frequency Genotype Haplotypes Humans Ovarian Diseases Ovarian Diseases

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