G. Gowtham Kumar , Solomon F.D. Paul , Chirag Molia , M. Manickavasagam , R. Ramya , G. Usha Rani , Nalini Ganesan , F. Andrea Mary
{"title":"雌激素合成通路CYP17A1、CYP19A1、HSD17B1基因多态性与卵巢癌易感性的关系","authors":"G. Gowtham Kumar , Solomon F.D. Paul , Chirag Molia , M. Manickavasagam , R. Ramya , G. Usha Rani , Nalini Ganesan , F. Andrea Mary","doi":"10.1016/j.mgene.2021.100985","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Ovarian cancer (OCa) is the most lethal gynecologic cancer in women. Genes involved in the synthesis of estrogen and its polymorphisms might have an influence on OCa. The current study aimed to examine the association of selected polymorphisms of <span><em>CYP17A1</em></span>, <em>CYP19A1</em>, and <span><em>HSD17B1</em></span><span> genes in the South Indian population with OCa. We examined single nucleotide polymorphisms (SNPs) in the </span><em>CYP17A1</em> (rs743572), <em>CYP19A1</em> (rs10046), and <em>HSD17B1</em> (rs605059) genes in South Indian women with OCa (<em>n</em> = 200) and age-matched controls (n = 200).</p></div><div><h3>Methods</h3><p>All samples were genotyped using TaqMan allelic discrimination assay for all three polymorphisms.</p></div><div><h3>Results</h3><p>The study revealed significant increase of CC genotype (OR = 3.93; 95%CI = 1.86–8.28; <em>p</em> ≤0.001) and C allele frequency (OR = 1.68; 95%CI = 1.25–2.26; p ≤0.001) of rs743572 polymorphism, and CT genotype (OR = 1.61; 95%CI =1.06–2.43; <em>p</em> = 0.023) and T allele frequency (OR = 1.46; 95%CI =1.07–1.98; <em>p</em> = 0.015) of rs10046 polymorphism in OCa patients in comparison with controls. Furthermore, for rs743572 polymorphism, <em>dominant</em> and <em>recessive</em> models and the <em>dominant</em> model of the rs10046 polymorphism revealed a significant association with OCa risk. Additionally, the rs743572, and rs10046 polymorphisms were associated with clinical characteristics of OCa.</p></div><div><h3>Conclusion</h3><p>The results of the current study indicated an association between <em>CYP17A1</em> and <em>CYP19A1</em><span> gene polymorphisms and the progression of OCa and the </span><em>HSD17B1</em> gene polymorphism did not show any association with OCa risk. However, studies on different populations with a larger number of sample sizes are needed to support the conclusions.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100985"},"PeriodicalIF":0.8000,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"The association between CYP17A1, CYP19A1, and HSD17B1 gene polymorphisms of estrogen synthesis pathway and ovarian cancer predisposition\",\"authors\":\"G. Gowtham Kumar , Solomon F.D. Paul , Chirag Molia , M. Manickavasagam , R. Ramya , G. Usha Rani , Nalini Ganesan , F. Andrea Mary\",\"doi\":\"10.1016/j.mgene.2021.100985\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>Ovarian cancer (OCa) is the most lethal gynecologic cancer in women. Genes involved in the synthesis of estrogen and its polymorphisms might have an influence on OCa. The current study aimed to examine the association of selected polymorphisms of <span><em>CYP17A1</em></span>, <em>CYP19A1</em>, and <span><em>HSD17B1</em></span><span> genes in the South Indian population with OCa. We examined single nucleotide polymorphisms (SNPs) in the </span><em>CYP17A1</em> (rs743572), <em>CYP19A1</em> (rs10046), and <em>HSD17B1</em> (rs605059) genes in South Indian women with OCa (<em>n</em> = 200) and age-matched controls (n = 200).</p></div><div><h3>Methods</h3><p>All samples were genotyped using TaqMan allelic discrimination assay for all three polymorphisms.</p></div><div><h3>Results</h3><p>The study revealed significant increase of CC genotype (OR = 3.93; 95%CI = 1.86–8.28; <em>p</em> ≤0.001) and C allele frequency (OR = 1.68; 95%CI = 1.25–2.26; p ≤0.001) of rs743572 polymorphism, and CT genotype (OR = 1.61; 95%CI =1.06–2.43; <em>p</em> = 0.023) and T allele frequency (OR = 1.46; 95%CI =1.07–1.98; <em>p</em> = 0.015) of rs10046 polymorphism in OCa patients in comparison with controls. Furthermore, for rs743572 polymorphism, <em>dominant</em> and <em>recessive</em> models and the <em>dominant</em> model of the rs10046 polymorphism revealed a significant association with OCa risk. Additionally, the rs743572, and rs10046 polymorphisms were associated with clinical characteristics of OCa.</p></div><div><h3>Conclusion</h3><p>The results of the current study indicated an association between <em>CYP17A1</em> and <em>CYP19A1</em><span> gene polymorphisms and the progression of OCa and the </span><em>HSD17B1</em> gene polymorphism did not show any association with OCa risk. However, studies on different populations with a larger number of sample sizes are needed to support the conclusions.</p></div>\",\"PeriodicalId\":38190,\"journal\":{\"name\":\"Meta Gene\",\"volume\":\"31 \",\"pages\":\"Article 100985\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2022-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Meta Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214540021001365\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214540021001365","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
The association between CYP17A1, CYP19A1, and HSD17B1 gene polymorphisms of estrogen synthesis pathway and ovarian cancer predisposition
Background
Ovarian cancer (OCa) is the most lethal gynecologic cancer in women. Genes involved in the synthesis of estrogen and its polymorphisms might have an influence on OCa. The current study aimed to examine the association of selected polymorphisms of CYP17A1, CYP19A1, and HSD17B1 genes in the South Indian population with OCa. We examined single nucleotide polymorphisms (SNPs) in the CYP17A1 (rs743572), CYP19A1 (rs10046), and HSD17B1 (rs605059) genes in South Indian women with OCa (n = 200) and age-matched controls (n = 200).
Methods
All samples were genotyped using TaqMan allelic discrimination assay for all three polymorphisms.
Results
The study revealed significant increase of CC genotype (OR = 3.93; 95%CI = 1.86–8.28; p ≤0.001) and C allele frequency (OR = 1.68; 95%CI = 1.25–2.26; p ≤0.001) of rs743572 polymorphism, and CT genotype (OR = 1.61; 95%CI =1.06–2.43; p = 0.023) and T allele frequency (OR = 1.46; 95%CI =1.07–1.98; p = 0.015) of rs10046 polymorphism in OCa patients in comparison with controls. Furthermore, for rs743572 polymorphism, dominant and recessive models and the dominant model of the rs10046 polymorphism revealed a significant association with OCa risk. Additionally, the rs743572, and rs10046 polymorphisms were associated with clinical characteristics of OCa.
Conclusion
The results of the current study indicated an association between CYP17A1 and CYP19A1 gene polymorphisms and the progression of OCa and the HSD17B1 gene polymorphism did not show any association with OCa risk. However, studies on different populations with a larger number of sample sizes are needed to support the conclusions.
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍:
Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.