Mona S Habieb, Ashraf A Dawood, Mahmoud M Emara, Mohammad G Elhelbawy, Nesreen G Elhelbawy
{"title":"埃及 2 型糖尿病患者的人类遗传变异 CYP2J2 rs2280275 和 EPHX2 rs751141 与糖尿病肾病风险。","authors":"Mona S Habieb, Ashraf A Dawood, Mahmoud M Emara, Mohammad G Elhelbawy, Nesreen G Elhelbawy","doi":"10.2147/TACG.S281502","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Diabetic nephropathy (DN), the primary driver of end-stage kidney disease, is a problem with serious consequences for society's health. Single nucleotide polymorphisms (SNPs) can define differences in susceptibility to DN and aid in development of personalized treatment. Giving the importance of epoxyeicosatrienoic acids (EETs) in kidney health, we aimed to study the association between two SNPs in the genes controlling synthesis and degradation of EETs <i>(CYP2J2</i> rs2280275 and <i>EPHX2</i> rs751141 respectively) and susceptibility of type 2 diabetes mellitus (T2DM) patients to develop DN.</p><p><strong>Patients and methods: </strong>Two hundred subjects were enrolled and categorized into three groups: group I (80 T2DM patients with DN), group II (60 T2DM patients without DN) and group III (60 healthy controls). Urea, creatinine, albumin/creatinine ratio (ACR), and eGFR were measured for all participants. Genotyping of <i>CYP2J2</i> rs2280275 and <i>EPHX2</i> rs751141 was done by real time PCR.</p><p><strong>Results: </strong>There was no significant difference between the studied groups regarding <i>CYP2J2</i> rs2280275. In contrast, <i>EPHX2</i> rs751141 was associated with increased risk of DN under a dominant model (GG vs GA+AA: OR=0.375; 95% CI (0.19-0.75), P=0.006) in unadjusted model and after adjustment for age and sex (OR=0.440; 95% CI (0.21-0.92), P=0.029), recessive model (AA vs GG+GA: OR=0.195; 95% CI (0.05-0.74), P=0.017) and additive model (GA vs GG+AA): OR=0.195; 95% CI (0.05-0.74), P=0.017).</p><p><strong>Conclusion: </strong><i>CYP2J2</i> rs2280275 was not associated with DN predisposition. However, <i>EPHX2</i> rs751141 could be a genetic marker for development and progression of DN among Egyptian T2DM patients.</p>","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":null,"pages":null},"PeriodicalIF":2.6000,"publicationDate":"2020-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/22/90/tacg-13-165.PMC7682612.pdf","citationCount":"0","resultStr":"{\"title\":\"The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients.\",\"authors\":\"Mona S Habieb, Ashraf A Dawood, Mahmoud M Emara, Mohammad G Elhelbawy, Nesreen G Elhelbawy\",\"doi\":\"10.2147/TACG.S281502\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Diabetic nephropathy (DN), the primary driver of end-stage kidney disease, is a problem with serious consequences for society's health. Single nucleotide polymorphisms (SNPs) can define differences in susceptibility to DN and aid in development of personalized treatment. Giving the importance of epoxyeicosatrienoic acids (EETs) in kidney health, we aimed to study the association between two SNPs in the genes controlling synthesis and degradation of EETs <i>(CYP2J2</i> rs2280275 and <i>EPHX2</i> rs751141 respectively) and susceptibility of type 2 diabetes mellitus (T2DM) patients to develop DN.</p><p><strong>Patients and methods: </strong>Two hundred subjects were enrolled and categorized into three groups: group I (80 T2DM patients with DN), group II (60 T2DM patients without DN) and group III (60 healthy controls). Urea, creatinine, albumin/creatinine ratio (ACR), and eGFR were measured for all participants. Genotyping of <i>CYP2J2</i> rs2280275 and <i>EPHX2</i> rs751141 was done by real time PCR.</p><p><strong>Results: </strong>There was no significant difference between the studied groups regarding <i>CYP2J2</i> rs2280275. In contrast, <i>EPHX2</i> rs751141 was associated with increased risk of DN under a dominant model (GG vs GA+AA: OR=0.375; 95% CI (0.19-0.75), P=0.006) in unadjusted model and after adjustment for age and sex (OR=0.440; 95% CI (0.21-0.92), P=0.029), recessive model (AA vs GG+GA: OR=0.195; 95% CI (0.05-0.74), P=0.017) and additive model (GA vs GG+AA): OR=0.195; 95% CI (0.05-0.74), P=0.017).</p><p><strong>Conclusion: </strong><i>CYP2J2</i> rs2280275 was not associated with DN predisposition. However, <i>EPHX2</i> rs751141 could be a genetic marker for development and progression of DN among Egyptian T2DM patients.</p>\",\"PeriodicalId\":39131,\"journal\":{\"name\":\"Application of Clinical Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2020-11-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/22/90/tacg-13-165.PMC7682612.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Application of Clinical Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/TACG.S281502\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Application of Clinical Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/TACG.S281502","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
背景：糖尿病肾病（DN）是终末期肾病的主要诱因，是一个严重影响社会健康的问题。单核苷酸多态性（SNPs）可确定糖尿病肾病易感性的差异，并有助于开发个性化治疗方法。鉴于环二十碳三烯酸（EETs）对肾脏健康的重要性，我们旨在研究控制 EETs 合成和降解的基因中的两个 SNPs（分别为 CYP2J2 rs2280275 和 EPHX2 rs751141）与 2 型糖尿病（T2DM）患者对 DN 的易感性之间的关系：200 名受试者分为三组：第一组（80 名患有 DN 的 T2DM 患者）、第二组（60 名未患有 DN 的 T2DM 患者）和第三组（60 名健康对照组）。对所有参与者的尿素、肌酐、白蛋白/肌酐比值（ACR）和 eGFR 进行了测量。通过实时 PCR 对 CYP2J2 rs2280275 和 EPHX2 rs751141 进行了基因分型：结果：研究组之间在 CYP2J2 rs2280275 方面没有明显差异。相反，在显性模型下，EPHX2 rs751141 与 DN 风险增加有关（GG vs GA+AA：在未调整模型中，OR=0.375；95% CI (0.19-0.75)，P=0.006；在调整年龄和性别（OR=0.440；95% CI (0.21-0.92)，P=0.029）、隐性模型（AA vs GG+GA：OR=0.195；95% CI (0.05-0.74)，P=0.017）和加性模型（GA vs GG+AA）后，OR=0.195；95% CI (0.05-0.74)，P=0.017：OR=0.195；95% CI (0.05-0.74)，P=0.017）：结论：CYP2J2 rs2280275与DN易感性无关。结论：CYP2J2 rs2280275与DN易感性无关，但EPHX2 rs751141可能是埃及T2DM患者DN发生和发展的遗传标记。
The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients.
Background: Diabetic nephropathy (DN), the primary driver of end-stage kidney disease, is a problem with serious consequences for society's health. Single nucleotide polymorphisms (SNPs) can define differences in susceptibility to DN and aid in development of personalized treatment. Giving the importance of epoxyeicosatrienoic acids (EETs) in kidney health, we aimed to study the association between two SNPs in the genes controlling synthesis and degradation of EETs (CYP2J2 rs2280275 and EPHX2 rs751141 respectively) and susceptibility of type 2 diabetes mellitus (T2DM) patients to develop DN.
Patients and methods: Two hundred subjects were enrolled and categorized into three groups: group I (80 T2DM patients with DN), group II (60 T2DM patients without DN) and group III (60 healthy controls). Urea, creatinine, albumin/creatinine ratio (ACR), and eGFR were measured for all participants. Genotyping of CYP2J2 rs2280275 and EPHX2 rs751141 was done by real time PCR.
Results: There was no significant difference between the studied groups regarding CYP2J2 rs2280275. In contrast, EPHX2 rs751141 was associated with increased risk of DN under a dominant model (GG vs GA+AA: OR=0.375; 95% CI (0.19-0.75), P=0.006) in unadjusted model and after adjustment for age and sex (OR=0.440; 95% CI (0.21-0.92), P=0.029), recessive model (AA vs GG+GA: OR=0.195; 95% CI (0.05-0.74), P=0.017) and additive model (GA vs GG+AA): OR=0.195; 95% CI (0.05-0.74), P=0.017).
Conclusion: CYP2J2 rs2280275 was not associated with DN predisposition. However, EPHX2 rs751141 could be a genetic marker for development and progression of DN among Egyptian T2DM patients.
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