BACKGROUND: Diabetic retinopathy (DR) is a blinding disease of increasing prevalence that is caused by a complex interplay of genetic and environmental factors. Here we describe the patient recruitment methodology, case and control definitions, and clinical characteristics of a study sample to be used for genome-wide association analysis to detect genetic risk variants of DR. METHODS: One thousand six hundred sixty-nine participants with either type 1 (T1) or type 2 (T2) diabetes mellitus (DM) aged 18 to 95 years were recruited in Australian hospital clinics. Individuals with T2DM had disease duration of at least 5 years and were taking oral hypoglycaemic medication, and/or insulin therapy. Participants underwent ophthalmic examination. Medical history and biochemistry results were collected. Venous blood was obtained for genetic analysis. RESULTS: Six hundred eighty-three diabetic cases (178 T1DM and 505 T2DM participants) with sight-threatening DR, defined as severe non-proliferative DR, proliferative DR or diabetic macular oedema were included in this analysis. Eight hundred twelve individuals with DM but no DR or minimal non-proliferative DR were recruited as controls (191 with T1DM and 621 with T2DM). The presence of sight-threatening DR was significantly correlated with DM duration, hypertension, nephropathy, neuropathy, HbA1C and body mass index. Diabetic macular oedema was associated with T2DM (P < 0.001), whereas proliferative DR was associated with T1DM (P < 0.001). CONCLUSIONS: Adoption of a case-control study design involving extremes of the DR phenotype makes this a suitable cohort, for a well-powered genome-wide association study to detect genetic risk variants for DR.
BACKGROUND:Diabetic retinopathy (DR) is a blinding disease of increasing prevalence that is caused by a complex interplay of genetic and environmental factors. Here we describe the patient recruitment methodology, case and control definitions, and clinical characteristics of a study sample to be used for genome-wide association analysis to detect genetic risk variants of DR. METHODS: One thousand six hundred sixty-nine participants with either type 1 (T1) or type 2 (T2) diabetes mellitus (DM) aged 18 to 95 years were recruited in Australian hospital clinics. Individuals with T2DM had disease duration of at least 5 years and were taking oral hypoglycaemic medication, and/or insulin therapy. Participants underwent ophthalmic examination. Medical history and biochemistry results were collected. Venous blood was obtained for genetic analysis. RESULTS: Six hundred eighty-three diabetic cases (178 T1DM and 505 T2DM participants) with sight-threatening DR, defined as severe non-proliferative DR, proliferative DR or diabetic macular oedema were included in this analysis. Eight hundred twelve individuals with DM but no DR or minimal non-proliferative DR were recruited as controls (191 with T1DM and 621 with T2DM). The presence of sight-threatening DR was significantly correlated with DM duration, hypertension, nephropathy, neuropathy, HbA1C and body mass index. Diabetic macular oedema was associated with T2DM (P < 0.001), whereas proliferative DR was associated with T1DM (P < 0.001). CONCLUSIONS: Adoption of a case-control study design involving extremes of the DR phenotype makes this a suitable cohort, for a well-powered genome-wide association study to detect genetic risk variants for DR.
Authors: Kathryn P Burdon; Rhys D Fogarty; Weiyong Shen; Sotoodeh Abhary; Georgia Kaidonis; Binoy Appukuttan; Alex W Hewitt; Shiwani Sharma; Mark Daniell; Rohan W Essex; John H Chang; Sonja Klebe; Stewart R Lake; Bishwanath Pal; Alicia Jenkins; Gowthaman Govindarjan; Periasamy Sundaresan; Ecosse L Lamoureux; Kim Ramasamy; Maria Pefkianaki; Philip G Hykin; Nikolai Petrovsky; Matthew A Brown; Mark C Gillies; Jamie E Craig Journal: Diabetologia Date: 2015-07-19 Impact factor: 10.122
Authors: Patricia S Graham; Georgia Kaidonis; Sotoodeh Abhary; Mark C Gillies; Mark Daniell; Rohan W Essex; John H Chang; Stewart R Lake; Bishwanath Pal; Alicia J Jenkins; Alex W Hewitt; Ecosse L Lamoureux; Philip G Hykin; Nikolai Petrovsky; Matthew A Brown; Jamie E Craig; Kathryn P Burdon Journal: BMC Med Genet Date: 2018-05-08 Impact factor: 2.103
Authors: Gerald Liew; Vincent W Wong; Mercy Saw; Tania E Tsang; Tim Nolan; Stephen Ong; I-Van Ho Journal: BMJ Open Date: 2019-01-24 Impact factor: 2.692
Authors: Ebony Liu; Georgia Kaidonis; Mark C Gillies; Sotoodeh Abhary; Rohan W Essex; John H Chang; Bishwanath Pal; Mark Daniell; Stewart Lake; Jolly Gilhotra; Nikolai Petrovsky; Alex W Hewitt; Alicia Jenkins; Ecosse L Lamoureux; Jonathan M Gleadle; Kathryn P Burdon; Jamie E Craig Journal: Sci Rep Date: 2019-01-24 Impact factor: 4.379
Authors: Lucia Sobrin; Gayatri Susarla; Lynn Stanwyck; John M Rouhana; Ashley Li; Samuela Pollack; Robert P Igo; Richard A Jensen; Xiaohui Li; Maggie C Y Ng; Albert V Smith; Jane Z Kuo; Kent D Taylor; Barry I Freedman; Donald W Bowden; Alan Penman; Ching J Chen; Jamie E Craig; Sharon G Adler; Emily Y Chew; Mary Frances Cotch; Brian Yaspan; Paul Mitchell; Jie Jin Wang; Barbara E K Klein; Tien Y Wong; Jerome I Rotter; Kathyrn P Burdon; Sudha K Iyengar; Ayellet V Segrè Journal: Am J Ophthalmol Date: 2021-06-21 Impact factor: 5.488
Authors: Samuela Pollack; Robert P Igo; Richard A Jensen; Mark Christiansen; Xiaohui Li; Ching-Yu Cheng; Maggie C Y Ng; Albert V Smith; Elizabeth J Rossin; Ayellet V Segrè; Samaneh Davoudi; Gavin S Tan; Yii-Der Ida Chen; Jane Z Kuo; Latchezar M Dimitrov; Lynn K Stanwyck; Weihua Meng; S Mohsen Hosseini; Minako Imamura; Darryl Nousome; Jihye Kim; Yang Hai; Yucheng Jia; Jeeyun Ahn; Aaron Leong; Kaanan Shah; Kyu Hyung Park; Xiuqing Guo; Eli Ipp; Kent D Taylor; Sharon G Adler; John R Sedor; Barry I Freedman; I-Te Lee; Wayne H-H Sheu; Michiaki Kubo; Atsushi Takahashi; Samy Hadjadj; Michel Marre; David-Alexandre Tregouet; Roberta Mckean-Cowdin; Rohit Varma; Mark I McCarthy; Leif Groop; Emma Ahlqvist; Valeriya Lyssenko; Elisabet Agardh; Andrew Morris; Alex S F Doney; Helen M Colhoun; Iiro Toppila; Niina Sandholm; Per-Henrik Groop; Shiro Maeda; Craig L Hanis; Alan Penman; Ching J Chen; Heather Hancock; Paul Mitchell; Jamie E Craig; Emily Y Chew; Andrew D Paterson; Michael A Grassi; Colin Palmer; Donald W Bowden; Brian L Yaspan; David Siscovick; Mary Frances Cotch; Jie Jin Wang; Kathryn P Burdon; Tien Y Wong; Barbara E K Klein; Ronald Klein; Jerome I Rotter; Sudha K Iyengar; Alkes L Price; Lucia Sobrin Journal: Diabetes Date: 2018-11-28 Impact factor: 9.337