Please use this identifier to cite or link to this item: https://doi.org/10.1111/cge.14116
Title: Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN)
Authors: Lu, Liangjian
Yap, Yok-Chin
Duc, Quang Nguyen
Chan, Yiong-Huak 
Ng, Jun-Li 
Zhang, Yao-Chun
Chan, Chang-Yien 
Than, Mya 
Liu, Isaac Desheng 
Asim, Sadaf
Moorani, Khemchand
Naeem, Bilquis
Ijaz, Iftikhar
Thi, Minh Tan Nguyen
Lee, Ming-Lee
Eng, Caroline
Huque, Syed Saimul
Ng, Yong-Hong 
Ganesan, Indra 
Chao, Sing-Ming 
Chong, Siew-Le 
Tan, Puay-Hoon 
Loh, Alwin 
Davila, Sonia 
Kumar, Vikrant 
Ling, Joanna Zhi-Jie
Moorakonda, Rajesh Babu 
Tan, Karen Mei-Ling 
Ng, Alvin Yu-Jin
Poon, Kok-Siong
Schaefer, Franz
Lipska-Zietkiewicz, Beata
Yap, Hui-Kim 
Ng, Kar-Hui 
Keywords: Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Asia
genetics
glomerulopathy
nephrotic syndrome
MUTATIONS
Issue Date: 1-Feb-2022
Publisher: WILEY
Citation: Lu, Liangjian, Yap, Yok-Chin, Duc, Quang Nguyen, Chan, Yiong-Huak, Ng, Jun-Li, Zhang, Yao-Chun, Chan, Chang-Yien, Than, Mya, Liu, Isaac Desheng, Asim, Sadaf, Moorani, Khemchand, Naeem, Bilquis, Ijaz, Iftikhar, Thi, Minh Tan Nguyen, Lee, Ming-Lee, Eng, Caroline, Huque, Syed Saimul, Ng, Yong-Hong, Ganesan, Indra, Chao, Sing-Ming, Chong, Siew-Le, Tan, Puay-Hoon, Loh, Alwin, Davila, Sonia, Kumar, Vikrant, Ling, Joanna Zhi-Jie, Moorakonda, Rajesh Babu, Tan, Karen Mei-Ling, Ng, Alvin Yu-Jin, Poon, Kok-Siong, Schaefer, Franz, Lipska-Zietkiewicz, Beata, Yap, Hui-Kim, Ng, Kar-Hui (2022-02-01). Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN). CLINICAL GENETICS. ScholarBank@NUS Repository. https://doi.org/10.1111/cge.14116
Abstract: Multinational studies have reported monogenic etiologies in 25%–30% of children with steroid-resistant nephrotic syndrome. Such large studies are lacking in Asia. We established Deciphering Diversities: Renal Asian Genetics Network (DRAGoN) and aimed to describe the genetic and clinical spectrums in Asians. We prospectively studied a cohort of 183 probands with suspected genetic glomerulopathies from South and Southeast Asia, of whom 17% had positive family history. Using multi-gene panel sequencing, we detected pathogenic variants in 26 (14%) probands, of whom one-third had COL4A4 or COL4A5 variants (n = 9, 5%). Of those with COL4A5 defects, only 25% had features suggestive of Alport syndrome. Besides traditional predictors for genetic disease (positive family history and extrarenal malformations), we identified novel predictors, namely older age (6.2 vs. 2.4 years; p = 0.001), hematuria (OR 5.6; 95% CI 2.1–14.8; p < 0.001), and proteinuria in the absence of nephrotic syndrome (OR 4.6; 95% CI 1.8–11.8; p = 0.001) at first manifestation. Among patients who first presented with proteinuria without nephrotic syndrome, the genetic diagnostic rates were >60% when a second risk factor (positive family history or extrarenal manifestation) co-existed. The genetic spectrum of glomerulopathies appears different in Asia. Collagen IV genes may be included in sequencing panels even when suggestive clinical features are absent.
Source Title: CLINICAL GENETICS
URI: https://scholarbank.nus.edu.sg/handle/10635/216856
ISSN: 0009-9163
1399-0004
DOI: 10.1111/cge.14116
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