CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome

Background Steroid-resistant nephrotic syndrome (SRNS) often develops into end stage renal disease. Previous studies have reported that NPHS2 gene mutation, gender, and atopic history are risk factors associated with SRNS. Interethnic, sociocultural, and environmental differences have also been suggested to affect these mutations.Objective To analyze possible risk factors for SRNS, including NPHS2 gene mutations (412C→T and 419delG), gender and atopic history, in Indonesian subjects with SRNS.Methods A case-control study with 153 subjects, consisting of 88 SRNS patients and 65 control subjects, was undertaken in 10 Indonesian teaching centre hospitals from September 2006 to December 2007. Analysis of the NPHS2 gene mutation in 412 C→T was performed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), while that for the NPHS2 gene mutation in 419delG was performed by restriction fragment length polymorphism (RFLP). Data was analyzed by multiple logistic regression.Results In our Indonesian subjects, the significant risk factors for SRNS were male gender (OR=2.21; CI 95%:1.07-4.56, P=0.036), NPHS2 412C→T gene mutation (OR=18.07; CI 95%:6.76-48.31, P<0.001), and NPHS2 419delG gene mutation (OR=4.55; CI 95%:1.66-12.47, P=0.003). However, atopic history was not a significant risk factor for SRNS (OR=1.807; CI 95%:0.642-5.086, P=0.262).Conclusion NPHS2 412C→T and 419delG gene mutations, as well as male gender are risk factors for SRNS in Indonesian subjects. Atopic history was not significantly associated with SRNS in our subjects. [Paediatr Indones. 2011;51:272-6].

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TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran

Molecular Biology Reports ◽

10.1007/s11033-019-05074-1 ◽

2019 ◽

Vol 46 (6) ◽

pp. 6339-6344

Author(s):

Sepideh Zununi Vahed ◽

Hakimeh Moghaddas Sani ◽

Mehdi Haghi ◽

Mohammadali Mohajel Shoja ◽

Mohammadreza Ardalan

Keyword(s):

Nephrotic Syndrome ◽

Adult Patients ◽

Gene Variants ◽

Steroid Resistant ◽

Steroid Resistant Nephrotic Syndrome ◽

North West ◽

Nphs2 Gene

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NPHS1 and NPHS2 Gene Mutations in Chinese Children With Sporadic Nephrotic Syndrome

Pediatric Research ◽

10.1203/01.pdr.0000250041.19306.3d ◽

2007 ◽

Vol 61 (1) ◽

pp. 117-122 ◽

Cited By ~ 22

Author(s):

Jianhua Mao ◽

Yang Zhang ◽

Lizhong Du ◽

Yuwen Dai ◽

Weizhong Gu ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Gene Mutations ◽

Chinese Children ◽

Nphs2 Gene

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NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review

Genetics in Medicine ◽

10.1097/01.gim.0000200947.09626.1c ◽

2006 ◽

Vol 8 (2) ◽

pp. 63-75 ◽

Cited By ~ 64

Author(s):

Nora Franceschini ◽

Kari E North ◽

Jeffrey B Kopp ◽

Louise Mckenzie ◽

Cheryl Winkler

Keyword(s):

Nephrotic Syndrome ◽

Focal Segmental Glomerulosclerosis ◽

Segmental Glomerulosclerosis ◽

Nphs2 Gene

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Establishing the Genotyping of NPHS2 Polymorphisms in Patients with Primary Nephrotic Syndrome

VNU Journal of Science Medical and Pharmaceutical Sciences ◽

10.25073/2588-1132/vnumps.4066 ◽

2017 ◽

Vol 33 (2) ◽

Author(s):

Pham Thi Hong Nhung ◽

Vu Van Nga ◽

Nguyen Thi Thuy Linh ◽

Do The Hoanh ◽

Pham Van Dem ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Sanger Sequencing ◽

Pediatric Patients ◽

Chain Reaction ◽

Primary Nephrotic Syndrome ◽

Polymerase Chain ◽

Corticosteroid Response ◽

Nphs2 Gene ◽

New Mutations

Podocin protein is encoded by the NPHS2 gene is largely responsible for resistance to corticosteroid in pharmacological treatment of nephrotic syndrome. Therefore, we have constructed the genotyping test of NPHS2 polymorphisms on 149 pediatric patients with primary nephrotic syndrome. Main methods consisted of DNA extraction from peripheral blood samples, polymerase chain reaction (PCR) and Sanger sequencing. In my study, 251 SNPs from 6 exons and 2 new mutations have detected by genotyping test. These results will provide helpful tool and data for further research to determine the role of NPHS2 polymorphisms with corticosteroid response in the treatment of nephrotic syndrome.

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Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2019.700 ◽

2019 ◽

Vol 7 (19) ◽

pp. 3145-3148

Author(s):

Moushira Zaki ◽

Shreen El-Shaer ◽

Sahar Rady ◽

Manal Abd El-Salam ◽

Ragaa Abd-El-Salam ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Mutational Analysis ◽

Polymerase Chain Reaction Amplification ◽

Disease Onset ◽

Control Group ◽

Steroid Resistant ◽

Steroid Resistant Nephrotic Syndrome ◽

Increased Risk ◽

Egyptian Children ◽

Nphs2 Gene

BACKGROUND: Mutations in the NPHS2 genes are the main aetiology of early-onset and familial steroid-resistant nephrotic syndrome (SRNS). The pathogenic NPHS2 mutation together with the p.R229Q variant has been less described among Egyptian children. AIM: This study aims to determine the mutation of NPHS2 in children with NS and discover the role of p.R229Q variant in SRNS METHODS: The study included 53 children with NS, and 53 healthy volunteers matched in age and sex controls. The median age at disease onset was 7.3 years. Among NS cases, 31 cases had steroid-sensitive nephrotic syndrome (SSNS) and 22 children with steroid-resistant nephrotic syndrome (SRNS). Polymerase chain reaction amplification of the whole coding region of NPHS2 gene was carried out for its mutational analysis. Restriction digestion testing was carried out after PCR to determine the presence of R229Q polymorphism. Randomly selected samples were re-genotyped by two independent technicians for assessment of Quality control RESULTS: NS patients showed a significant higher frequency of heterozygous genotype GA (89.5%) compared to control group (10.5%) with increased risk of NS (OR, 12.04; 95% CI, 2.61 to55.38; p < 0.0001). Moreover, SRNS showed a significant higher frequency of GA genotype (68.2%) than the SSNS group (6.5%). The GA genotype was associated with increased risk of SRNS (OR, 31.1; 95% CI, 5.73 to 168.48; P < 0.001) and the A allele was associated with increased risk of SRNS (OR, 15.52; 95% CI, 3.325 to 72.422; P < .001). CONCLUSION: R229Q polymorphisms are associated with SRNS, and any child with SRNS should be searched for mutations in the NPHS2 gene.

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