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DOI 10.2337/db17-0914

Медицинская библиотека · Diabetes · 2018

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

van Zuydam Natalie R, Ahlqvist Emma, Sandholm Niina, Deshmukh Harshal, Rayner N William, Abdalla Moustafa, Ladenvall Claes, Ziemek Daniel, Fauman Eric, Robertson Neil R, McKeigue Paul M, Valo Erkka, Forsblom Carol, Harjutsalo Valma, Finnish Diabetic Nephropathy Study (FinnDiane), Perna Annalisa, Rurali Erica, Marcovecchio M Loredana, Igo Robert P, Salem Rany M, Perico Norberto, Lajer Maria, Käräjämäki Annemari, Imamura Minako, Kubo Michiaki, Takahashi Atsushi, Sim Xueling, Liu Jianjun, van Dam Rob M, Jiang Guozhi, Tam Claudia H T, Luk Andrea O Y, Lee Heung Man, Lim Cadmon K P, Szeto Cheuk Chun, So Wing Yee, Chan Juliana C N, Hong Kong Diabetes Registry Theme-based Research Scheme Project Group, Ang Su Fen, Dorajoo Rajkumar, Wang Ling, Clara Tan Si Hua, McKnight Amy-Jayne, Duffy Seamus, Warren 3 and Genetics of Kidneys in Diabetes (GoKinD) Study Group, Pezzolesi Marcus G, GENIE (GEnetics of Nephropathy an International Effort) Consortium, Marre Michel, Gyorgy Beata, Hadjadj Samy, Hiraki Linda T, Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications (EDIC) Research Group, Ahluwalia Tarunveer S, Almgren Peter, Schulz Christina-Alexandra, Orho-Melander Marju, Linneberg Allan, Christensen Cramer, Witte Daniel R, Grarup Niels, Brandslund Ivan, Melander Olle, Paterson Andrew D, Tregouet David, Maxwell Alexander P, Lim Su Chi, Ma Ronald C W, Tai E Shyong, Maeda Shiro, Lyssenko Valeriya, Tuomi Tiinamaija, Krolewski Andrzej S, Rich Stephen S, Hirschhorn Joel N, Florez Jose C, Dunger David, Pedersen Oluf, Hansen Torben, Rossing Peter, Remuzzi Giuseppe, SUrrogate markers for Micro- and Macrovascular hard endpoints for Innovative diabetes Tools (SUMMIT) Consortium, Brosnan Mary Julia, Palmer Colin N A, Groop Per-Henrik, Colhoun Helen M, Groop Leif C, McCarthy Mark I

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near GABRR1 (rs9942471, P = 4.5 × 10-8) associated with microalbuminuria in European T2D case subjects. However, no replication of this signal was observed in Asian subjects with T2D or in the equivalent T1D analysis. There was only limited support, in this substantially enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate. We conclude that, despite challenges in addressing phenotypic heterogeneity, access to increased sample sizes will continue to provide more robust inference regarding risk variant discovery for DKD.

Для цитирования: van Zuydam Natalie R, Ahlqvist Emma, Sandholm Niina, Deshmukh Harshal, Rayner N William, Abdalla Moustafa, Ladenvall Claes, Ziemek Daniel, Fauman Eric, Robertson Neil R, McKeigue Paul M, Valo Erkka, Forsblom Carol, Harjutsalo Valma, Finnish Diabetic Nephropathy Study (FinnDiane), Perna Annalisa, Rurali Erica, Marcovecchio M Loredana, Igo Robert P, Salem Rany M, Perico Norberto, Lajer Maria, Käräjämäki Annemari, Imamura Minako, Kubo Michiaki, Takahashi Atsushi, Sim Xueling, Liu Jianjun, van Dam Rob M, Jiang Guozhi, Tam Claudia H T, Luk Andrea O Y, Lee Heung Man, Lim Cadmon K P, Szeto Cheuk Chun, So Wing Yee, Chan Juliana C N, Hong Kong Diabetes Registry Theme-based Research Scheme Project Group, Ang Su Fen, Dorajoo Rajkumar, Wang Ling, Clara Tan Si Hua, McKnight Amy-Jayne, Duffy Seamus, Warren 3 and Genetics of Kidneys in Diabetes (GoKinD) Study Group, Pezzolesi Marcus G, GENIE (GEnetics of Nephropathy an International Effort) Consortium, Marre Michel, Gyorgy Beata, Hadjadj Samy, Hiraki Linda T, Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications (EDIC) Research Group, Ahluwalia Tarunveer S, Almgren Peter, Schulz Christina-Alexandra, Orho-Melander Marju, Linneberg Allan, Christensen Cramer, Witte Daniel R, Grarup Niels, Brandslund Ivan, Melander Olle, Paterson Andrew D, Tregouet David, Maxwell Alexander P, Lim Su Chi, Ma Ronald C W, Tai E Shyong, Maeda Shiro, Lyssenko Valeriya, Tuomi Tiinamaija, Krolewski Andrzej S, Rich Stephen S, Hirschhorn Joel N, Florez Jose C, Dunger David, Pedersen Oluf, Hansen Torben, Rossing Peter, Remuzzi Giuseppe, SUrrogate markers for Micro- and Macrovascular hard endpoints for Innovative diabetes Tools (SUMMIT) Consortium, Brosnan Mary Julia, Palmer Colin N A, Groop Per-Henrik, Colhoun Helen M, Groop Leif C, McCarthy Mark I. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.. Diabetes. 2018. DOI: 10.2337/db17-0914.

Предметные рубрики MeSH

AdultAgedAged, 80 and overCase-Control StudiesDiabetes Mellitus, Type 2Diabetic NephropathiesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansKidney Failure, ChronicMaleMiddle AgedPolymorphism, Single NucleotideRenal Insufficiency, Chronic
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