Significantly higher rates of KIDINS220 polymorphisms in patients with obesity and end-stage renal disease

Jesse Richards , Madisen Fae Dorand , Maria Paszkowiak , Sana Ahmed , Courtney McCorkle , Pranay Kathuria
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Abstract

Background

Kinase D-interacting substrate of 220 kDa (“KIDINS220”) is an integral plasma membrane protein essential to signaling throughout the body; abnormalities are linked to a variety of disorders, including obesity, but have never been directly linked to chronic- or end-stage renal disease.

Methods

Retrospective chart review identified patients with severe obesity who presented for pre-kidney transplant weight management. 20 individuals met criteria for testing for genetic causes of obesity. A χ2 test of independence was utilized to compare genetic mutation rates in this cohort to all individuals tested nationally.

Results

This case series presents a cohort of patients with severe obesity and end-stage renal disease who were subsequently found to have a significantly higher rate of KIDINS220 mutations (20 %, χ2 = 27.8, p < 0.0001) compared to the national positivity rate of all individuals tested for genetic causes of obesity.

Conclusions

Mutations within KIDINS220 may play a modulatory role in the progression of chronic kidney disease in patients with obesity, as evidenced by this small retrospective study. The relationship between KIDINS200, kidney disease, and obesity is complex and requires further study, but may represent a potential therapeutic target in the future.

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肥胖和终末期肾病患者的KIDINS220多态性发生率显著升高。
背景:Kinase D-interacting substrate of 220 kDa("KIDINS220")是一种完整的质膜蛋白,对整个机体的信号传导至关重要;其异常与包括肥胖在内的多种疾病有关,但从未与慢性或终末期肾病直接相关:方法:回顾性病历审查确定了肾移植前体重管理的重度肥胖患者。20人符合肥胖遗传原因检测标准。利用χ2独立性检验将该队列中的基因突变率与全国所有接受检测的人进行比较:本病例系列显示了一组患有严重肥胖症和终末期肾病的患者,随后发现他们的 KIDINS220 基因突变率明显较高(20%,χ2 = 27.8,p 结论:KIDINS220 基因突变率在全国范围内都是最高的:这项小型回顾性研究表明,KIDINS220 基因突变可能对肥胖症患者慢性肾病的进展起到调节作用。KIDINS200、肾脏疾病和肥胖之间的关系很复杂,需要进一步研究,但可能是未来的潜在治疗靶点。
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