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• W4310362045 abstract "Diabetic kidney disease (DKD) is recognized as an important public health challenge. However, its genomic mechanisms are poorly understood. To identify rare variants for DKD, we conducted a whole-exome sequencing (WES) study leveraging large cohorts well-phenotyped for chronic kidney disease and diabetes. Our two-stage WES study included 4372 European and African ancestry participants from the Chronic Renal Insufficiency Cohort and Atherosclerosis Risk in Communities studies (stage 1) and 11 487 multi-ancestry Trans-Omics for Precision Medicine participants (stage 2). Generalized linear mixed models, which accounted for genetic relatedness and adjusted for age, sex and ancestry, were used to test associations between single variants and DKD. Gene-based aggregate rare variant analyses were conducted using an optimized sequence kernel association test implemented within our mixed model framework. We identified four novel exome-wide significant DKD-related loci through initiating diabetes. In single-variant analyses, participants carrying a rare, in-frame insertion in the DIS3L2 gene (rs141560952) exhibited a 193-fold increased odds [95% confidence interval (CI): 33.6, 1105] of DKD compared with noncarriers (P = 3.59 × 10-9). Likewise, each copy of a low-frequency KRT6B splice-site variant (rs425827) conferred a 5.31-fold higher odds (95% CI: 3.06, 9.21) of DKD (P = 2.72 × 10-9). Aggregate gene-based analyses further identified ERAP2 (P = 4.03 × 10-8) and NPEPPS (P = 1.51 × 10-7), which are both expressed in the kidney and implicated in renin-angiotensin-aldosterone system modulated immune response. In the largest WES study of DKD, we identified novel rare variant loci attaining exome-wide significance. These findings provide new insights into the molecular mechanisms underlying DKD." @default.
• W4310362045 created "2022-12-09" @default.
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• W4310362045 date "2022-11-29" @default.
• W4310362045 modified "2023-10-02" @default.
• W4310362045 title "Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease" @default.
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• W4310362045 cites W1996278628 @default.
• W4310362045 cites W1997042641 @default.
• W4310362045 cites W1999575142 @default.
• W4310362045 cites W2000541664 @default.
• W4310362045 cites W2003510810 @default.
• W4310362045 cites W2016402156 @default.
• W4310362045 cites W2018838463 @default.
• W4310362045 cites W2026853694 @default.
• W4310362045 cites W2100909778 @default.
• W4310362045 cites W2102889851 @default.
• W4310362045 cites W2114598208 @default.
• W4310362045 cites W2126237420 @default.
• W4310362045 cites W2130505638 @default.
• W4310362045 cites W2133520037 @default.
• W4310362045 cites W2156679982 @default.
• W4310362045 cites W2157802706 @default.
• W4310362045 cites W2162303336 @default.
• W4310362045 cites W2163636666 @default.
• W4310362045 cites W2168537727 @default.
• W4310362045 cites W2234969141 @default.
• W4310362045 cites W2286816102 @default.
• W4310362045 cites W2297994856 @default.
• W4310362045 cites W2329339300 @default.
• W4310362045 cites W2340171512 @default.
• W4310362045 cites W2394782024 @default.
• W4310362045 cites W2417483443 @default.
• W4310362045 cites W2601325510 @default.
• W4310362045 cites W2613629789 @default.
• W4310362045 cites W2751686252 @default.
• W4310362045 cites W2765189203 @default.
• W4310362045 cites W2765868800 @default.
• W4310362045 cites W2766467345 @default.
• W4310362045 cites W2793967234 @default.
• W4310362045 cites W2802079625 @default.
• W4310362045 cites W2897925357 @default.
• W4310362045 cites W2901303766 @default.
• W4310362045 cites W2917373968 @default.
• W4310362045 cites W2950099124 @default.

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