Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome
AimNPHS2 is the coding gene of podocin. This study aims to investigate the association between NPHS2 p.R229Q (rs61747728), the most frequently reported missense variant of NPHS2, and focal segmental glomerular sclerosis (FSGS) or steroid-resistant nephrotic syndrome (SRNS) based on typing the varian...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-07-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2022.937122/full |
| _version_ | 1811289103413542912 |
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| author | Qiongxiu Zhou Qiongxiu Zhou Qinjie Weng Xiaoyan Zhang Yunzi Liu Jun Tong Xu Hao Hao Shi Pingyan Shen Hong Ren Jingyuan Xie Nan Chen |
| author_facet | Qiongxiu Zhou Qiongxiu Zhou Qinjie Weng Xiaoyan Zhang Yunzi Liu Jun Tong Xu Hao Hao Shi Pingyan Shen Hong Ren Jingyuan Xie Nan Chen |
| author_sort | Qiongxiu Zhou |
| collection | DOAJ |
| description | AimNPHS2 is the coding gene of podocin. This study aims to investigate the association between NPHS2 p.R229Q (rs61747728), the most frequently reported missense variant of NPHS2, and focal segmental glomerular sclerosis (FSGS) or steroid-resistant nephrotic syndrome (SRNS) based on typing the variant in a Chinese FSGS/SRNS cohort and conducting a meta-analysis.MethodWe recruited patients with FSGS or SRNS and healthy individuals. To conduct a meta-analysis, all studies on p.R229Q and FSGS/SRNS were searched from public databases.ResultsIn total, we enrolled 204 patients with FSGS, 61 patients with SRNS [46 with FSGS, 9 with minimal change disease (MCD), and six patients with IgA nephropathy (IgAN)], and 100 healthy controls. Unexpectedly, p.R229Q was absent in the patients from our cohort. By meta-analysis of 21 studies including 2,489 patients with FSGS/SRNS and 6,004 healthy controls, we confirmed that the A allele of p.R229Q was significantly associated with increased risk of FSGS/SRNS (allelic OR = 1.9, 95% CI = 1.44-2.52, P < 0.001). However, the subgroup analysis showed that the association between p.R229Q and FSGS/SRNS was true only in Caucasians (allelic OR = 2.14, 95%CI = 1.54-2.98, P < 0.001) and in early-onset patients (allelic OR: 2.13, 95% CI = 1.21-3.76, P = 0.009).ConclusionNPHS2 p.R229Q may play an important role in enhancing the susceptibility of FSGS/SRNS, especially in ethnicity of Caucasian and age of early-onset patients. |
| first_indexed | 2024-04-13T03:47:53Z |
| format | Article |
| id | doaj.art-5345921f50b84ccbb26bea1f682697f6 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-13T03:47:53Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-5345921f50b84ccbb26bea1f682697f62022-12-22T03:03:54ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2022-07-01910.3389/fmed.2022.937122937122Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic SyndromeQiongxiu Zhou0Qiongxiu Zhou1Qinjie Weng2Xiaoyan Zhang3Yunzi Liu4Jun Tong5Xu Hao6Hao Shi7Pingyan Shen8Hong Ren9Jingyuan Xie10Nan Chen11Department of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Nephrology, Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaAimNPHS2 is the coding gene of podocin. This study aims to investigate the association between NPHS2 p.R229Q (rs61747728), the most frequently reported missense variant of NPHS2, and focal segmental glomerular sclerosis (FSGS) or steroid-resistant nephrotic syndrome (SRNS) based on typing the variant in a Chinese FSGS/SRNS cohort and conducting a meta-analysis.MethodWe recruited patients with FSGS or SRNS and healthy individuals. To conduct a meta-analysis, all studies on p.R229Q and FSGS/SRNS were searched from public databases.ResultsIn total, we enrolled 204 patients with FSGS, 61 patients with SRNS [46 with FSGS, 9 with minimal change disease (MCD), and six patients with IgA nephropathy (IgAN)], and 100 healthy controls. Unexpectedly, p.R229Q was absent in the patients from our cohort. By meta-analysis of 21 studies including 2,489 patients with FSGS/SRNS and 6,004 healthy controls, we confirmed that the A allele of p.R229Q was significantly associated with increased risk of FSGS/SRNS (allelic OR = 1.9, 95% CI = 1.44-2.52, P < 0.001). However, the subgroup analysis showed that the association between p.R229Q and FSGS/SRNS was true only in Caucasians (allelic OR = 2.14, 95%CI = 1.54-2.98, P < 0.001) and in early-onset patients (allelic OR: 2.13, 95% CI = 1.21-3.76, P = 0.009).ConclusionNPHS2 p.R229Q may play an important role in enhancing the susceptibility of FSGS/SRNS, especially in ethnicity of Caucasian and age of early-onset patients.https://www.frontiersin.org/articles/10.3389/fmed.2022.937122/fullfocal segmental glomerular sclerosisNPHS2p.R229Qsteroid resistant nephrotic syndromemeta-analysis |
| spellingShingle | Qiongxiu Zhou Qiongxiu Zhou Qinjie Weng Xiaoyan Zhang Yunzi Liu Jun Tong Xu Hao Hao Shi Pingyan Shen Hong Ren Jingyuan Xie Nan Chen Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome Frontiers in Medicine focal segmental glomerular sclerosis NPHS2 p.R229Q steroid resistant nephrotic syndrome meta-analysis |
| title | Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome |
| title_full | Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome |
| title_fullStr | Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome |
| title_full_unstemmed | Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome |
| title_short | Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome |
| title_sort | association between nphs2 p r229q and focal segmental glomerular sclerosis steroid resistant nephrotic syndrome |
| topic | focal segmental glomerular sclerosis NPHS2 p.R229Q steroid resistant nephrotic syndrome meta-analysis |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2022.937122/full |
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