Page 140 - Read Online

Page 134 Chan et al. J Transl Genet Genom 2024;8:13-34 https://dx.doi.org/10.20517/jtgg.2023.36

89. Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diab Rep 2016;16:6. DOI PubMed PMC
90. Domenech E, Gomez-Zaera M, Nunes V. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative
disease. Pediatr Endocrinol Rev 2006;3:249-57. PubMed
91. Chan JC, Woo J, Cockram CS, Teoh R. DIDMOAD syndrome in a Chinese male with HLA DR7 DRw12. Postgrad Med J
1987;63:1109. DOI PubMed PMC
92. Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation
of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the
Association for Molecular Pathology. Genet Med 2015;17:405-24. DOI PubMed PMC
93. Lau YL, Chan LC, Chan YY, et al. Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - implications for
population screening. N Engl J Med 1997;336:1298-301. DOI
94. Lao TT, Ho LF. α-Thalassaemia trait and gestational diabetes mellitus in Hong Kong. Diabetologia 2001;44:966-71. DOI
95. Fernández-Real JM, McClain D, Manco M. Mechanisms linking glucose homeostasis and iron metabolism toward the onset and
progression of type 2 diabetes. Diabetes Care 2015;38:2169-76. DOI PubMed
96. Bazi A, Sharifi-Rad J, Rostami D, Sargazi-Aval O, Safa A. Diabetes mellitus in thalassaemia major patients: a report from the
southeast of Iran. J Clin Diagn Res 2017;11:BC01-4. DOI PubMed PMC
97. Hussein N, Henneman L, Kai J, Qureshi N. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and
Tay-Sachs disease. Cochrane Database Syst Rev 2021;10:CD010849. DOI PubMed PMC
98. Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB. Carrier screening for beta-thalassaemia: a review of international practice. Eur J
Hum Genet 2010;18:1077-83. DOI PubMed PMC
99. Guyer MS, Collins FS. The human genome project and the future of medicine. Am J Dis Child 1993;147:1145-52. DOI PubMed
100. Pociot F. Type 1 diabetes genome-wide association studies: not to be lost in translation. Clin Transl Immunology 2017;6:e162. DOI
101. McCarthy M, Birney E. Personalized profiles for disease risk must capture all facets of health. Nature 2021;597:175-7. DOI
PubMed
102. Ma RC, Cooper ME. Genetics of diabetic kidney disease-from the worst of nightmares to the light of dawn? J Am Soc Nephrol
2017;28:389-93. DOI PubMed PMC
103. Stadler LKJ, Farooqi IS. A new drug target for type 2 diabetes. Cell 2017;170:12-4. DOI PubMed
104. Hara K, Fujita H, Johnson TA, et al; DIAGRAM consortium. Genome-wide association study identifies three novel loci for type 2
diabetes. Hum Mol Genet 2014;23:239-46. DOI
105. Udler MS, McCarthy MI, Florez JC, Mahajan A. Genetic risk scores for diabetes diagnosis and precision medicine. Endocr Rev
2019;40:1500-20. DOI PubMed PMC
106. Guinan K, Beauchemin C, Tremblay J, et al. Economic evaluation of a new polygenic risk score to predict nephropathy in adult
patients with type 2 diabetes. Can J Diabetes 2021;45:129-36. DOI
107. Tremblay J, Haloui M, Attaoua R, et al. Polygenic risk scores predict diabetes complications and their response to intensive blood
pressure and glucose control. Diabetologia 2021;64:2012-25. DOI PubMed PMC
108. Noordam R, Läll K, Smit RAJ, et al. Stratification of type 2 diabetes by age of diagnosis in the UK biobank reveals subgroup-specific
genetic associations and causal risk profiles. Diabetes 2021;70:1816-25. DOI
109. Herman W, Hoerger T, Brandle M, et al. The cost-effectiveness of lifestyle modification or metformin in preventing type 2 diabetes
in adults with impaired glucose tolerance. Ann Intern Med 2005;142:323-32. DOI PubMed PMC
110. Zhang L, Zhang Y, Shen S, et al; China Diabetes Prevention Program Study Group. Safety and effectiveness of metformin plus
lifestyle intervention compared with lifestyle intervention alone in preventing progression to diabetes in a Chinese population with
impaired glucose regulation: a multicentre, open-label, randomised controlled trial. Lancet Diabetes Endocrinol 2023;11:567-77.
DOI
111. Hahn SJ, Kim S, Choi YS, Lee J, Kang J. Prediction of type 2 diabetes using genome-wide polygenic risk score and metabolic
profiles: A machine learning analysis of population-based 10-year prospective cohort study. EBioMedicine 2022;86:104383. DOI
PubMed PMC
112. Lim LL, Chow E, Chan JCN. Cardiorenal diseases in type 2 diabetes mellitus: clinical trials and real-world practice. Nat Rev
Endocrinol 2023;19:151-63. DOI PubMed
113. Choi JG, Winn AN, Skandari MR, et al. First-line therapy for type 2 diabetes with sodium-glucose cotransporter-2 inhibitors and
glucagon-like peptide-1 receptor agonists : a cost-effectiveness study. Ann Intern Med 2022;175:1392-400. DOI PubMed PMC
114. Knowles JW, Rader DJ, Khoury MJ. Cascade screening for familial hypercholesterolemia and the use of genetic testing. JAMA
2017;318:381-2. DOI PubMed PMC
115. Chan JC, Sui Y, Oldenburg B, et al; JADE and PEARL Project Team. Effects of telephone-based peer support in patients with type 2
diabetes mellitus receiving integrated care: a randomized clinical trial. JAMA Intern Med 2014;174:972-81. DOI
116. Chan JC, Ozaki R, Luk A, et al; JADE Collaborative Study Group. Delivery of integrated diabetes care using logistics and
information technology - the Joint Asia Diabetes Evaluation (JADE) program. Diabetes Res Clin Pract 2014;106 Suppl 2:S295-304.
DOI
117. Ma RCW, Chan JCN. Implementation of precision genetic approaches for type 1 and 2 diabetes. In: Basu R, editor. Precision
medicine in diabetes. Cham: Springer International Publishing; 2022. pp. 111-29.
118. Ma RCW, Xie F, Lim CKP, et al. A randomized clinical trial of genetic testing and personalized risk counselling in patients with type