Polymorphism for Transforming Growth Factor Beta 1-509 (TGF-B1-509): Association with Endometriosis

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This study investigated the TGF-B1-509 gene polymorphism's association with endometriosis and found that the T homozygote and T allele correlate with increased susceptibility.

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The study investigated whether the TGF-B1-509 gene polymorphism is associated with endometriosis susceptibility by genotyping 150 women with endometriosis and 159 non-endometriosis controls using PCR followed by restriction enzyme digestion. The authors found significant differences in genotype proportions and allele frequencies between groups, with C/C, C/T, and T/T genotypes at 9.3/61.3/29.4% in cases versus 41.3/58.5/0% in controls, and T and C allele frequencies of 60/40% versus 29.2/70.8%, respectively. They reported that the T homozygote and T allele were associated with higher susceptibility. The paper does not explicitly state limitations such as population matching or adjustment for potential confounders. This paper is centrally about endometriosis — it tests TGF-B1-509 polymorphism as a genetic susceptibility marker for endometriosis.

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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.
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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-B1-509 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 41.3/58.5/0% 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-B1-509 gene polymorphism exists. T homozygote and T allele for TGF-B1 are associated with higher susceptibility to endometriosis. Similar content being viewed by others

References

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Polymorphism for Transforming Growth Factor Beta 1-509 (TGF-B1-509): Association with Endometriosis. Biochem Genet 43, 203–210 (2005). https://doi.org/10.1007/s10528-005-5211-x Received: Accepted: Issue date: DOI: https://doi.org/10.1007/s10528-005-5211-x

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endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Polymorphism, Genetic Transforming Growth Factor beta Deoxyribonucleases, Type II Site-Specific Deoxyribonucleases, Type II Site-Specific Endometriosis Female Gene Frequency Genotype Humans Premenopause Transforming Growth Factor beta Transforming Growth Factor beta1

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