Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome.
Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome.
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DOI：
10.1016/j.heliyon.2020.e05317
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发表时间：
2020-10
期刊：
影响因子：
4
通讯作者：
Apu MNH
中科院分区：
文献类型：
--
作者：
Jyoti SS;Islam F;Shrabonee II;Sultana TN;Chaity NI;Nahid NA;Islam MR;Islam MS;Apu MNH
有限的和矛盾的药物遗传学研究NPHS 2基因R229 Q多态性在不同种族的肾病综合征（NS）的儿童引导我们调查的基因型频率和相关的风险，这种多态性在孟加拉国NS儿童。采用前瞻性病例对照研究方法，将142例肾病综合征（NS）患儿分为两组，病例组40例为激素耐药型肾病综合征（SRNS），对照组102例为激素敏感型肾病综合征（SSNS）。采用R229 Q多态性聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对两者进行基因分型。结果表明，SRNS和SSNS儿童中R229 Q多态性的检出率分别为27.50%和12.75%。SRNS儿童携带Arg/Gln基因型的风险是SSNS儿童的2.94倍（p = 0.025）。此外，在SRNS儿童中观察到R229 Q变异体与位于外显子8的p.Ala297Val呈复合杂合子形式。发病年龄（4-6岁）是孟加拉国儿童SRNS易感性的重要影响因素（校正OR = 1.06; 95% CI = 1.023-1.094; p = 0.001）。尽管SRNS在男孩中的发病率高于女孩（80%比20%），但性别仍然是SRNS易感性的中性因素（p = 0.257）。NPHS 2 p.R229Q基因变异与p.Ala297Val复合杂合性可能导致孟加拉国儿童的致病性SRNS大规模的研究是必要的，以建立基因型-表型相关性。建议在孟加拉国SRNS儿童中首先筛查p.R229Q，如果阳性，则筛查p.Ala297Val。临床遗传学;人类遗传学;遗传性疾病;儿科;激素抵抗型肾病综合征; NPHS 2; R229 Q多态性; PCR-RFLP;孟加拉国
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. 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. 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. 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. Clinical genetics; Human genetics; Genetic disorders; Pediatrics; Steroid resistant nephrotic syndrome; NPHS2; R229Q polymorphism; PCR-RFLP; Bangladesh
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