R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome

Ali, Shatha Hussain; Mohammed, Rasha Kasim; Saheb, Hussein Ali; Abdul–Majeed, Ban A.

doi:10.1155/2017/1407506

Cited by 5 publications

(4 citation statements)

References 28 publications

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“…Moreover, Shatha et al (22) , Phelan et al (23) , Behnam et al (24) were in contrast to our findings. They concluded that polymorphism R229Q of NPHS2 gene is prevalent in Iraqi children with SRNS and SSNS.…”

Section: Discussioncontrasting

confidence: 99%

Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East

Tony¹,

Aboushall

Alwaheeb³

et al. 2022

The Egyptian Journal of Hospital Medicine

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Background: Limited and contradictory pharmacogenetic studies of NPHS2 gene R229Q polymorphism in nephrotic syndrome (NS) children and adults of different ethnicities steered us to investigate the genotype frequency and associated risk of this polymorphism in Middle East NS children and adults. Objectives: The present work aimed to study the effect of NPHS2 R229Q genetic variations on the susceptibility to idiopathic NS and the treatment response in NS children and adults from Assiut University and major Kuwait Hospitals. Patients and methods: A prospective observational cohort study was conducted which comprised a total of 100 idiopathic NS patients (30 children and 70 adults). Mutation analysis was carried out by Taqman allele discrimination of the NPHS2 gene R229Q polymorphism (rs61747728) using specific primers and probes. Results:The results indicate the presence of R229Q polymorphism in 9% of our patients. Moreover, R229Q variant in Steroid-resistant nephrotic syndrome (SRNS) adults was observed in a single heterozygous form. A total of 100 patients were genotyped for the variant rs61747728. Ninety-one percent of patients carry the CC genotype (Homozygous), in addition only 9% were carriers of the CT genotype (Heterozygous), whereas no patients were carrying the TT genotype. The minor allele (T) frequency was 0.045, whereas the major allele (C) frequency was 0.955 in our population. Conclusion: NPHS2 p.R229Q plays an important role in enhancing the susceptibility of minimal change disease (MCD), focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome (FSGS/SRNS), especially in Middle East population and age of late-onset patients. We recommend to screen for p.R229Q polymorphism in the diagnosis of SRNS among our population.

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Section: Discussioncontrasting

confidence: 99%

Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East

Tony¹,

Aboushall

Alwaheeb³

et al. 2022

The Egyptian Journal of Hospital Medicine

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“…Ali et al. established male predominance with statistical significance in case of p.R229Q [ 31 ]. Similar findings were observed in studies of different region [ 32 , 33 , 34 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome

Jyoti

Islam

Shrabonee

et al. 2020

Heliyon

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Background Limited and contradictory pharmacogenetic studies of NPHS2 gene R229Q polymorphism in nephrotic syndrome (NS) children of different ethnicities steered us to investigate the genotype frequency and associated risk of this polymorphism in Bangladeshi NS children. Methods A prospective case-control study was conducted which comprised a total of 142 children having nephrotic syndrome (NS), divided into 2 groups: case group consisted of 40 children with steroid-resistant nephrotic syndrome (SRNS), and control group involved 102 children with steroid-sensitive nephrotic syndrome (SSNS). Both were genotyped by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for R229Q polymorphism. Results The results indicate the presence of R229Q polymorphism in 27.50% of SRNS and 12.75% of SSNS children. SRNS children possess 2.94-fold greater risk (p = 0.025) of carrying Arg/Gln genotype compared to SSNS children. Moreover, R229Q variant in SRNS children was observed as in a compound heterozygous form with p.Ala297Val located in exon 8. Age of onset (4–6 years) presents as a significant contributing factor (adjusted OR = 1.06; 95% CI = 1.023–1.094; p = 0.001) for SRNS susceptibility in Bangladeshi children. Contrarily, though the incidence of SRNS was higher in male children than female (80% vs 20%), gender remains to be a neutral factor (p = 0.257) in relation to SRNS susceptibility. Conclusion Compound heterozygosity of NPHS2 p.R229Q gene variant with p.Ala297Val may cause pathogenic SRNS in Bangladeshi children. Large scale studies are warranted to establish the genotype-phenotype correlation. It is recommended to screen for p.R229Q first and, if positive, for p.Ala297Val in Bangladeshi SRNS children.

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“…Steroid responsive NS (SSNS) was regarded as complete remission achieved with steroid therapy. Steroid-resistant NS (SRNS) was regarded as failure to achieve remission following 4-week prednisone 60 mg/m2 followed by three methylprednisolone pulses [7], [8].…”

Section: Methodsmentioning

confidence: 99%

Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome

Zaki¹,

El-Shaer²,

Rady³

et al. 2019

Open Access Maced J Med Sci

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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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R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome

Cited by 5 publications

References 28 publications

Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East

Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East

Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome

Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome

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