{"title":"塞内加尔单倍型(Xmn1-rs7412844)、α -地中海贫血(HBA1/HBA2缺失3.7kb)、NPRL3-rs11248850和BCL11A-rs4671393变异对镰状细胞肾病的影响","authors":"El Hadji Malick Ndour, Khuthala Mnika, Fatou Guèye Tall, Moussa Seck, Indou Dème Ly, Victoria Nembaware, Hélène Ange Thérèse Sagna-Bassène, Rokhaya Dione, Aliou Abdoulaye Ndongo, Jean Pascal Demba Diop, Nènè Oumou Kesso Barry, Moustapha Djité, Rokhaya Ndiaye Diallo, Papa Madièye Guèye, Saliou Diop, Ibrahima Diagne, Aynina Cissé, Ambroise Wonkam, Philomène Lopez Sall","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Sickle cell anemia (SCA) can cause substantial kidney dysfunction resulting in sickle cell nephropathy, which may be affected by the presence of modifier genes. This study evaluates the effects of some modifier genes on sickle cell nephropathy.</p><p><strong>Methods: </strong>Patients living with SCA were recruited. Alpha-thalassemia (3.7kb <i>HBA1/HBA2</i> deletion) was genotyped using gap PCR multiplex. Senegal haplotype (Xmn1-rs7412844), <i>BCL11A</i>-rs4671393 and <i>NPRL3</i>-rs11248850 were genotyped using Mass Array. The effects of variants on kidney dysfunction were then evaluated using multivariate analysis.</p><p><strong>Results: </strong>The number of patients living with SCA included in this study was 162 with a median age of 20 years [minimum-maximum: 4-57] and a female frequency of 53.21%. Senegal haplotype, <i>BCL11A</i>-rs4671393 variant were protective factors against albuminuria stage A2 with an <i>odds ratio (OR)</i> of 0.22 (95% CI 0.05-0.90) and 0.27 (95% CI 0.08-0.96) respectively. The combination <i>NPRL3</i>-rs11248850 variant - 3.7kb <i>HBA1/HBA2</i> deletion was a protective factor against albuminuria stage A2 (<i>OR</i> = 0.087, 95% Cl 0.01-0.78) but it was a risk factor for glomerular hyperfiltration (<i>OR</i> = 17.69, 95% CI 1.85-169.31).</p><p><strong>Conclusions: </strong>All four variants displayed a protective effect against albuminuria stage A2. The combination alpha-thalassemia - <i>NPRL3</i>-rs11248850 variant is a risk factor for glomerular hyperfiltration.</p>","PeriodicalId":13891,"journal":{"name":"International journal of biochemistry and molecular biology","volume":"13 2","pages":"5-16"},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123508/pdf/ijbmb0013-0005.pdf","citationCount":"0","resultStr":"{\"title\":\"Effects of Senegal haplotype (<i>Xmn1</i>-rs7412844), alpha-thalassemia (3.7kb <i>HBA1/HBA2</i> deletion), <i>NPRL3</i>-rs11248850 and <i>BCL11A</i>-rs4671393 variants on sickle cell nephropathy.\",\"authors\":\"El Hadji Malick Ndour, Khuthala Mnika, Fatou Guèye Tall, Moussa Seck, Indou Dème Ly, Victoria Nembaware, Hélène Ange Thérèse Sagna-Bassène, Rokhaya Dione, Aliou Abdoulaye Ndongo, Jean Pascal Demba Diop, Nènè Oumou Kesso Barry, Moustapha Djité, Rokhaya Ndiaye Diallo, Papa Madièye Guèye, Saliou Diop, Ibrahima Diagne, Aynina Cissé, Ambroise Wonkam, Philomène Lopez Sall\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Sickle cell anemia (SCA) can cause substantial kidney dysfunction resulting in sickle cell nephropathy, which may be affected by the presence of modifier genes. This study evaluates the effects of some modifier genes on sickle cell nephropathy.</p><p><strong>Methods: </strong>Patients living with SCA were recruited. Alpha-thalassemia (3.7kb <i>HBA1/HBA2</i> deletion) was genotyped using gap PCR multiplex. Senegal haplotype (Xmn1-rs7412844), <i>BCL11A</i>-rs4671393 and <i>NPRL3</i>-rs11248850 were genotyped using Mass Array. The effects of variants on kidney dysfunction were then evaluated using multivariate analysis.</p><p><strong>Results: </strong>The number of patients living with SCA included in this study was 162 with a median age of 20 years [minimum-maximum: 4-57] and a female frequency of 53.21%. Senegal haplotype, <i>BCL11A</i>-rs4671393 variant were protective factors against albuminuria stage A2 with an <i>odds ratio (OR)</i> of 0.22 (95% CI 0.05-0.90) and 0.27 (95% CI 0.08-0.96) respectively. The combination <i>NPRL3</i>-rs11248850 variant - 3.7kb <i>HBA1/HBA2</i> deletion was a protective factor against albuminuria stage A2 (<i>OR</i> = 0.087, 95% Cl 0.01-0.78) but it was a risk factor for glomerular hyperfiltration (<i>OR</i> = 17.69, 95% CI 1.85-169.31).</p><p><strong>Conclusions: </strong>All four variants displayed a protective effect against albuminuria stage A2. The combination alpha-thalassemia - <i>NPRL3</i>-rs11248850 variant is a risk factor for glomerular hyperfiltration.</p>\",\"PeriodicalId\":13891,\"journal\":{\"name\":\"International journal of biochemistry and molecular biology\",\"volume\":\"13 2\",\"pages\":\"5-16\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123508/pdf/ijbmb0013-0005.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International journal of biochemistry and molecular biology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International journal of biochemistry and molecular biology","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
目的:镰状细胞性贫血(SCA)可引起严重的肾功能障碍，导致镰状细胞肾病，这可能受到修饰基因存在的影响。本研究评估了一些修饰基因对镰状细胞肾病的影响。方法:招募SCA患者。α -地中海贫血(3.7kb HBA1/HBA2缺失)采用gap PCR多重分型。采用Mass Array对塞内加尔单倍型(Xmn1-rs7412844)、BCL11A-rs4671393和NPRL3-rs11248850进行基因分型。然后使用多变量分析评估变异对肾功能障碍的影响。结果:本研究纳入SCA患者162例，中位年龄20岁[最小-最大:4-57岁]，女性占53.21%。塞内加尔单倍型、BCL11A-rs4671393变异是A2期蛋白尿的保护因素，比值比(OR)分别为0.22 (95% CI 0.05-0.90)和0.27 (95% CI 0.08-0.96)。NPRL3-rs11248850变异- 3.7kb HBA1/HBA2缺失是A2期蛋白尿的保护因素(OR = 0.087, 95% Cl 0.01-0.78)，但它是肾小球高滤过的危险因素(OR = 17.69, 95% CI 1.85-169.31)。结论:所有四种变异对A2期蛋白尿都有保护作用。联合α -地中海贫血- NPRL3-rs11248850变异是肾小球高滤过的危险因素。
Effects of Senegal haplotype (Xmn1-rs7412844), alpha-thalassemia (3.7kb HBA1/HBA2 deletion), NPRL3-rs11248850 and BCL11A-rs4671393 variants on sickle cell nephropathy.
Objective: Sickle cell anemia (SCA) can cause substantial kidney dysfunction resulting in sickle cell nephropathy, which may be affected by the presence of modifier genes. This study evaluates the effects of some modifier genes on sickle cell nephropathy.
Methods: Patients living with SCA were recruited. Alpha-thalassemia (3.7kb HBA1/HBA2 deletion) was genotyped using gap PCR multiplex. Senegal haplotype (Xmn1-rs7412844), BCL11A-rs4671393 and NPRL3-rs11248850 were genotyped using Mass Array. The effects of variants on kidney dysfunction were then evaluated using multivariate analysis.
Results: The number of patients living with SCA included in this study was 162 with a median age of 20 years [minimum-maximum: 4-57] and a female frequency of 53.21%. Senegal haplotype, BCL11A-rs4671393 variant were protective factors against albuminuria stage A2 with an odds ratio (OR) of 0.22 (95% CI 0.05-0.90) and 0.27 (95% CI 0.08-0.96) respectively. The combination NPRL3-rs11248850 variant - 3.7kb HBA1/HBA2 deletion was a protective factor against albuminuria stage A2 (OR = 0.087, 95% Cl 0.01-0.78) but it was a risk factor for glomerular hyperfiltration (OR = 17.69, 95% CI 1.85-169.31).
Conclusions: All four variants displayed a protective effect against albuminuria stage A2. The combination alpha-thalassemia - NPRL3-rs11248850 variant is a risk factor for glomerular hyperfiltration.
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