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Direct-to-consumer genetic testing in China and its role in GWAS discovery and replication 被引量:1

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摘要 Background:The direct-to-consumer genetic testing(DTC-GT)industry has exploded in recent years,initiated by market pioneers from the United States and quickly followed by companies from Europe and Asia.In addition to their primary objective of providing ancestry and health information to customers,DTC-GT services have emerged as a valuable data resource for large-scale population and genetics studies.Methods:We assessed DTC-GT market leaders in the U.S.and China,user participation in research,and academic reports based on this information.We also investigated DTC-GT end-user value by tracing key updates of companies provided via health risk reports and evaluating their predictive power.We then assessed the replicability of several genome-wide association studies(GWAS)based on a Chinese DTC-GT biobank.Results:As recent entrants to the market,Chinese DTC-GT serv ice providers have published less academic research than their Western counterparts;however,a larger proportion of Chinese users consent to participate in research projects.Dramatic increases in user volume and resultant report updates led to reclassification of some users'polygenic risk levels,but within a reasonable scale and with increased predictive power.Replicability among GWAS using the Chinese DTC-GT biobank varied by studied trait,population background,and sample size.Conclusions:We speculate that the rapid growth in DTC-GT services,particularly in non-Caucasian populations,will yield an important and much-needed resource for biobanking,large-scale genetic studies,clinical trials,and post-clinical applications.
出处 《Quantitative Biology》 CSCD 2021年第2期201-215,共15页 定量生物学(英文版)
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  • 1郝卫国,边建超,朱萍.瓣状甲的类型、分布与遗传方式——对陕西周至县某村的调查[J].人类学学报,2005,24(4):319-327. 被引量:3
  • 2Matsuda A, Kuzuya T. Relationship between obesity and concordance rate for type 2 (non-insulin-dependent) diabetes mellitus among twins. Diabetes Res Clin Pract 1994; 26: 137-43.
  • 3Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 2000; 26: 76-80.
  • 4Issemann I, Green S. Activation of a member of the steroid hormone receptor superfamily by peroxisome proliferators. Nature 1990; 347: 645-50.
  • 5Auwerx J. PPARgamma, the ultimate thrifty gene. Diabetologia 1999; 42: 1033-49.
  • 6Deeb SS, Fajas L, Nemoto M, Pihlajamaki J, Mykkanen L, Kuusisto J, et al. A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet 1998; 20: 284-7.
  • 7Hamann A, Munzberg H, Buttron P, Busing B, Hinney A, Mayer H, et al. Missense variants in the human peroxisome proliferator-activated receptor-gamma2 gene in lean and obese subjects. Eur J Endocrinol 1999; 141: 90-2.
  • 8Yen C J, Beamer BA, Negri C, Silver K, Brown KA, Yarnall DP, et al. Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation. Biochem Biophys Res Commun 1997; 241: 270-4.
  • 9Kang ES, Park SY, Kim H J, Kim CS, Ahn CW, Cha BS, et al. Effects of Pro12Ala polymorphism of peroxisome proliferator-activated receptor gamma2 gene on rosiglitazone response in type 2 diabetes. Clin Pharmacol Ther 2005; 78: 202-8.
  • 10Tsai FJ, Yang CF, Chen CC, Chuang LM, Lu CH, Chang CT, et al. A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. PLoS Genet 2010; 6: e1000847.

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