The forty years of medical genetics in China

Lei Cai; Lan Alice Zheng; Lin He

doi:10.1016/j.jgg.2018.10.001

Volume 45 Issue 11

Nov. 2018

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The forty years of medical genetics in China

doi: 10.1016/j.jgg.2018.10.001

Lei Cai^{a, b},
Lan Alice Zheng^c,
Lin He^{a, b}

a
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Genetics and Development, Shanghai Jiao Tong University, Shanghai 200240, China
b
Shanghai Center for Women and Children's Health, Shanghai 200062, China
c
Stanley Center, Broad Institute, Cambridge, MA 02142, USA

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Corresponding author: E-mail address: lcai@sjtu.edu.cn (Lei Cai); E-mail address: helin@sjtu.edu.cn (Lin He)
Received Date: 2018-10-19
Accepted Date: 2018-10-31

Available Online: 2018-11-03

Publish Date: 2018-11-20

Abstract

Abstract

Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy, Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a well-constructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection, along with strong support at the national industry level.
- Medical genetics,
- GWAS,
- CRISPR,
- Cancer,
- Monogenic diseases,
- Complex diseases,
- Genetic diagnosis,
- Gene therapy

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References

[1]	Angeli, S., Lin, X., Liu, X.Z. Genetics of hearing and deafness Anat. Rec., 295 (2012),pp. 1812-1829
[2]	Bolotin, A., Quinquis, B., Sorokin, A. et al. Clustered regularly interspaced short palindrome repeats (CRISPRs) have spacers of extrachromosomal origin Microbiology, 151 (2005),pp. 2551-2561
[3]	Bruno, M.K., Hallett, M., Gwinn-Hardy, K. et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria Neurology, 63 (2004),pp. 2280-2287
[4]	Cai, L., Yang, Y.H., He, L. et al. Modulation of cytokine network in the comorbidity of schizophrenia and tuberculosis Curr. Top. Med. Chem., 16 (2016),pp. 655-665
[5]	Cai, L., Wan, C.L., He, L. et al. Gestational influenza increases the risk of psychosis in adults Med. Chem., 11 (2015),pp. 676-682
[6]	Cai, L., Yuan, W., Zhang, Z. et al. In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data Sci. Rep., 6 (2016),p. 36540
[7]	Cai, L., Tang, G., Chen, L. et al. Neuroreport, 16 (2005),pp. 1023-1026
[8]	Cai, L., Cai, M.H., Wang, M.Y. et al. PLoS One, 10 (2015)
[9]	Cai, L., Deng, S.L., Liang, L. et al. Hum. Genet., 132 (2013),pp. 265-273
[10]	Cai, L., Chen, T., Yang, J. et al. Serum trace element differences between Schizophrenia patients and controls in the Han Chinese population Sci. Rep., 5 (2015),p. 15013
[11]	Cao, J.J., Fang, K., Yang, H.M. Application of genomic technologies in the prevention of birth defects J. Int. Reprod. Health/Family Plan., 32 (2013),pp. 415-418
[12]	Chang, J., Zhong, R., Tian, J. et al. Nat. Genet., 50 (2018),pp. 338-343
[13]	Chen, J.Z., Xue, J.L. The biotherapy and gene-therapy of hernophilia B in China Chinese Sci. Bull. (Chinese Ver), 54 (2009),pp. 2766-2770
[14]	Chen, S.J., Zelent, A., Tong, J.H. et al. Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia J. Clin. Invest., 91 (1993),pp. 2260-2267
[15]	Chen, S.J., Zhu, Y.J., Tong, J.H. et al. Blood, 78 (1991),pp. 2696-2701
[16]	Chen, W., Zheng, R., Baade, P.D. et al. Cancer statistics in China, 2015 CA A Cancer J. Clin., 66 (2016),pp. 115-132
[17]	Chen, W.J., Lin, Y., Xiong, Z.Q. et al. Nat. Genet., 43 (2011),pp. 1252-1255
[18]	Chial, H. Mendelian genetics: patterns of inheritance and single-gene disorders Nature Edu., 1 (2008),p. 63
[19]	Cong, L., Ran, F.A., Cox, D. et al. Multiplex genome engineering using CRISPR/Cas systems Science, 339 (2013),pp. 819-823
[20]	Dahm, R. Friedrich miescher and the discovery of DNA Dev. Biol., 278 (2005),pp. 274-288
[21]	Deng, H.W., Yuquan Tumor gene therapy: current status and future prospectives Chin. J. Cancer Biother., 22 (2015),pp. 170-176
[22]	Deng, M., Wei, L., Zuo, X. et al. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis Nat. Genet., 45 (2013),pp. 697-700
[23]	Dong, J., Hu, Z., Wu, C. et al. Association analyses identify multiple new lung cancer susceptibility loci and their interactions with smoking in the Chinese population Nat. Genet., 44 (2012),pp. 895-899
[24]	Egilmez, O.K., Kalcioglu, M.T. Genetics of nonsyndromic congenital hearing loss Scientifica (Cairo), 2016 (2016),p. 7576064
[25]	Epstein, C.J. Medical genetics in the genomic medicine of the 21st century Am. J. Hum. Genet., 79 (2006),pp. 434-438
[26]	Esparza, S.D., Sakamoto, K.M. Topics in pediatric leukemia--acute lymphoblastic leukemia MedGenMed, 7 (2005),p. 23
[27]	Feng, C., Wang, L.Q., Dong, M.Y. et al. Assisted reproductive technology may increase clinical mutation detection in male offspring Fertil. Steril., 90 (2008),pp. 92-96
[28]	Fernandez-Pujals, A.M., Adams, M.J., Thomson, P. et al. Epidemiology and heritability of major depressive disorder, stratified by age of onset, sex, and Illness course in Generation Scotland: Scottish Family Health Study (GS:SFHS) PLoS One, 10 (2015)
[29]	Gao, B., Hu, J., Stricker, S. et al. A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range Nature, 458 (2009),pp. 1196-1200
[30]	Gao, Q., Pan, H.T., Lin, X.H. et al. Biol. Reprod., 91 (2014),p. 71
[31]	Gui, Y., Guo, G., Huang, Y. et al. Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder Nat. Genet., 43 (2011),pp. 875-878
[32]	Guo, H., Peng, Y., Hu, Z. et al. Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort Sci. Rep., 7 (2017),p. 44155
[33]	Hao, Z., Fu, D., Ming, Y. et al. Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China PLoS One, 13 (2018)
[34]	Hu, X.L., Feng, C., Lin, X.H. et al. High maternal serum estradiol environment in the first trimester is associated with the increased risk of small-for-gestational-age birth J. Clin. Endocrinol. Metab., 99 (2014),pp. 2217-2224
[35]	Hu, Z., Shi, Y., Mo, X. et al. A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations Nat. Genet., 45 (2013),pp. 818-821
[36]	Hu, Z., Wu, C., Shi, Y. et al. A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese Nat. Genet., 43 (2011),pp. 792-796
[37]	Huang, T., Liu, C.L., Li, L.L. et al. A new method for identifying causal genes of schizophrenia and anti-tuberculosis drug-induced hepatotoxicity Sci. Rep., 6 (2016),p. 32571
[38]	Jackson, D.A., Symons, R.H., Berg, P. Proc. Natl. Acad. Sci. U. S. A., 69 (1972),pp. 2904-2909
[39]	Kessler, R.C., Bromet, E.J. The epidemiology of depression across cultures Annu. Rev. Public Health, 34 (2013),pp. 119-138
[40]	Korver, A.M., Smith, R.J., Van Camp, G. et al. Congenital hearing loss Nat. Rev. Dis. Primers, 3 (2017),p. 16094
[41]	Lai, K., Huang, G., Su, L. et al. The prevalence of thalassemia in mainland China: evidence from epidemiological surveys Sci. Rep., 7 (2017),p. 920
[42]	Lee, S., Tsang, A., Huang, Y.Q. et al. The epidemiology of depression in metropolitan China Psychol. Med., 39 (2009),pp. 735-747
[43]	Li, M., Zhang, Z., Li, X. et al. Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway Nat. Genet., 46 (2014),pp. 872-876
[44]	Li, Y., Xu, Q., Lv, N. et al. Clinical implications of genome-wide DNA methylation studies in acute myeloid leukemia J. Hematol. Oncol., 10 (2017),p. 41
[45]	Li, Z., Chen, J., Yu, H. et al. Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia Nat. Genet., 49 (2017),pp. 1576-1583
[46]	Liang, P., Ding, C., Sun, H. et al. Correction of beta-thalassemia mutant by base editor in human embryos Protein Cell, 8 (2017),pp. 811-822
[47]	Lin, Z., Li, S., Feng, C. et al. Nat. Genet., 48 (2016),pp. 1508-1516
[48]	Liu, J.L. Sparks of the CRISPR explosion: applications in medicine and agriculture J. Genet. Genom., 44 (2017),pp. 413-414
[49]	Liu, W., Wang, H., Zhao, S. et al. The novel gene locus for agenesis of permanent teeth (He-Zhao deficiency) maps to chromosome 10q11.2 J. Dent. Res., 80 (2001),pp. 1716-1720
[50]	Liu, Z., Li, X., Zhang, J.T. et al. Nature, 530 (2016),pp. 98-102
[51]	Lu, X., Peloso, G.M., Liu, D.J. et al. Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease Nat. Genet., 49 (2017),pp. 1722-1730
[52]	Lu, X., Wang, L., Chen, S. et al. Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease Nat. Genet., 44 (2012),pp. 890-894
[53]	Lv, P.P., Meng, Y., Lv, M. et al. Altered thyroid hormone profile in offspring after exposure to high estradiol environment during the first trimester of pregnancy: a cross-sectional study BMC Med., 12 (2014),p. 240
[54]	Ma, G., Yu, J., Xiao, Y. et al. Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels Cell Res., 21 (2011),pp. 1343-1357
[55]	Ma, L.H., Liu, H., Xiong, H. et al. Aberrant transcriptional regulation of the MLL fusion partner EEN by AML1-ETO and its implication in leukemogenesis Blood, 109 (2007),pp. 769-777
[56]	Meng, Y., Lv, P.P., Ding, G.L. et al. High maternal serum estradiol levels induce Dyslipidemia in human newborns via a hepatic HMGCR estrogen response element Sci. Rep., 5 (2015),p. 10086
[57]	MOH China birth defect prevention report (2012) Q&A. Chin. Practical J. Rural Doctor, 19 (2012),pp. 3-5
[58]	Nestle, F.O., Kaplan, D.H., Barker, J. Psoriasis. N. Engl. J. Med., 361 (2009),pp. 496-509
[59]	Pan, H.T., Guo, M.X., Xiong, Y.M. et al. Differential proteomic analysis of umbilical artery tissue from preeclampsia patients, using iTRAQ isobaric tags and 2D nano LC-MS/MS J. Proteomics, 112 (2015),pp. 262-273
[60]	Pan, Q., Zhu, Y.J., Gu, B.W. et al. Oncogene, 27 (2008),pp. 3414-3423
[61]	Pearson, S., Jia, H., Kandachi, K. China approves first gene therapy Nat. Biotechnol., 22 (2004),pp. 3-4
[62]	Ran, F.A., Cong, L., Yan, W.X. et al. Nature, 520 (2015),pp. 186-191
[63]	Raty, J.K., Pikkarainen, J.T., Wirth, T. et al. Gene therapy: the first approved gene-based medicines, molecular mechanisms and clinical indications Curr. Mol. Pharmacol., 1 (2008),pp. 13-23
[64]	Research Group on Mental Defects Genetic and etiologic studies on mental defectives in the region of Tapei mountain Aata Genetica Sinica, 6 (1979),pp. 285-292
[65]	Roberts, R.J. How restriction enzymes became the workhorses of molecular biology Proc. Natl. Acad. Sci. U. S. A, 102 (2005),pp. 5905-5908
[66]	Shi, Y., Li, Z., Xu, Q. et al. Common variants on 8p12 and 1q24.2 confer risk of schizophrenia Nat. Genet., 43 (2011),pp. 1224-1227
[67]	Shi, Y.Y., He, L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci Cell Res., 15 (2005),pp. 97-98
[68]	Sun, L., Zhang, X., He, L. GWAS promotes precision medicine in China J. Genet. Genomics, 43 (2016),pp. 477-479
[69]	Sun, M., Li, N., Dong, W. et al. Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia Am. J. Hum. Genet., 84 (2009),pp. 807-813
[70]	Tang, H., Jin, X., Li, Y. et al. A large-scale screen for coding variants predisposing to psoriasis Nat. Genet., 46 (2014),pp. 45-50
[71]	Tang, J., Fan, Y., Li, H. et al. Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia J. Genet. Genomics, 44 (2017),pp. 295-306
[72]	Terwilliger, T., Abdul-Hay, M. Acute lymphoblastic leukemia: a comprehensive review and 2017 update Blood Canc. J., 7 (2017),p. e577
[73]	Tian, S., Lin, X.H., Xiong, Y.M. et al. Prevalence of prediabetes risk in offspring born to mothers with hyperandrogenism EBioMedicine, 16 (2017),pp. 275-283
[74]	Wang, F., Lu, L., Wang, S.B. et al. The prevalence of autism spectrum disorders in China: a comprehensive meta-analysis Int. J. Biol. Sci., 14 (2018),pp. 717-725
[75]	Wang, H.H., Zhou, C.L., Lv, M. et al. Prenatal high estradiol exposure induces sex-specific and dietarily reversible insulin resistance through decreased hypothalamic INSR Endocrinology, 159 (2018),pp. 465-476
[76]	Wang, J.L., Yang, X., Xia, K. et al. Brain, 133 (2010),pp. 3510-3518
[77]	Wang, T., Guo, H., Xiong, B. et al. Nat. Commun., 7 (2016),p. 13316
[78]	Wen, Y., Liu, Y., Xu, Y. et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Nat. Genet., 41 (2009),pp. 228-233
[79]	Wen, Z., Cheng, T.L., Li, G.Z. et al. Mol. Autism., 8 (2017),p. 43
[80]	Wijesekera, L.C., Leigh, P.N. Amyotrophic lateral sclerosis Orphanet J. Rare Dis., 4 (2009),p. 3
[81]	Wu, C., Hu, Z., He, Z. et al. Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations Nat. Genet., 43 (2011),pp. 679-684
[82]	Wu, C., Kraft, P., Zhai, K. et al. Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions Nat. Genet., 44 (2012),pp. 1090-1097
[83]	Wu, C., Miao, X., Huang, L. et al. Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations Nat. Genet., 44 (2011),pp. 62-66
[84]	Xia, J.H. A clinic and cytogenetic primary study oi1 a twins with nasopharyngeal carcinoma Hunan Med. J., 1 (1976),pp. 26-32
[85]	Xia, J.H., Li, L.Y., He, X.X. et al. Fragile site 1q44 involved in nasopharyngeal carcinoma. A study of a marker chromosome der(1)t(1;3)(q44;p11) Cancer Genet. Cytogenet., 35 (1988),pp. 135-140
[86]	Xia, J.H., Liu, C.Y., Tang, B.S. et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment Nat. Genet., 20 (1998),pp. 370-373
[87]	Xu, M., Zhang, D.F., Luo, R. et al. Alzheimers Dement, 14 (2018),pp. 215-229
[88]	Yan, X.J., Xu, J., Gu, Z.H. et al. Nat. Genet., 43 (2011),pp. 309-315
[89]	Yang, F., Li, Y., Xie, D. et al. Age at onset of major depressive disorder in Han Chinese women: relationship with clinical features and family history J. Affect. Disord., 135 (2011),pp. 89-94
[90]	Yang, X., She, C., Guo, J. et al. A locus for brachydactyly type A-1 maps to chromosome 2q35-q36 Am. J. Hum. Genet., 66 (2000),pp. 892-903
[91]	Yin, X., Low, H.Q., Wang, L. et al. Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility Nat. Commun., 6 (2015),p. 6916
[92]	Yu, M., Ping, Z., Zhang, S. et al. The survey of birth defects rate based on birth registration system Chin. Med. J. (Engl), 128 (2015),pp. 7-14
[93]	Yue, W.H., Wang, H.F., Sun, L.D. et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2 Nat. Genet., 43 (2011),pp. 1228-1231
[94]	Zetsche, B., Gootenberg, J.S., Abudayyeh, O.O. et al. Cpf1 is a single RNA-guided endonuclease of a class 2 CRISPR-Cas system Cell, 163 (2015),pp. 759-771
[95]	Zhang, H., Gao, Y., Jiang, F. et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies Ultrasound Obstet. Gynecol., 45 (2015),pp. 530-538
[96]	Zhang, J.Y., Chen, S.C., Chen, Y.Y. et al. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing PLoS One, 12 (2017)
[97]	Zhang, S.Q., Jiang, T., Li, M. et al. Nat. Genet., 44 (2012),pp. 1156-1160
[98]	Zhang, X.J., Huang, W., Yang, S. et al. Nat. Genet., 41 (2009),pp. 205-210
[99]	Zhang, X.W., Yan, X.J., Zhou, Z.R. et al. Arsenic trioxide controls the fate of the PML-RARalpha oncoprotein by directly binding PML Science, 328 (2010),pp. 240-243
[100]	Zhou, F., Cao, H., Zuo, X. et al. Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease Nat. Genet., 48 (2016),pp. 740-746
[101]	Zhou, X., Chen, Y., Mok, K.Y. et al. Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis Proc. Natl. Acad. Sci. U. S. A, 115 (2018),pp. 1697-1706
[102]	Zhu, X., He, F., Zeng, H. et al. Identification of functional cooperative mutations of SETD2 in human acute leukemia Nat. Genet., 46 (2014),pp. 287-293