孙昌

一、个人简介

教育经历

2001.09–2006.07，中国科学院昆明动物研究所，理学博士

1997.09-2001.07，陕西师范大学生命科学学院，理学学士

工作经历

2016.02至今，陕西师范大学，教授

2012.02–2016.02，云南大学，研究员

2009.09–2011.12，叶史瓦大学(Yeshiva University)，爱因斯坦医学院(Albert Einstein College of Medicine)，研究助理(Research Fellow)

2006.09–2009.08，芝加哥大学(University of Chicago)，人类遗传学系(Department of Human Genetics) ，博士后(Postdoctoral Scholar)

讲授课程

本科生：《遗传学》《遗传学实验》

研究生：《高级细胞生物学》《高级分子生物学》《基因组学》

研究生招生专业：生物化学与分子生物学 生物与医药

科研成果概况

截止2026年2月，以第一或通讯作者在J Natl Cancer Inst、Am J Hum Genet、Mol Biol Evol、Am J Resp Cell Mol、Int J Cancer、PLoS Genet、Am J Physiol-Lung C、Hum Mutat、Carcinogenesis、Gynecol Oncol、Breast Cancer Res Tr、Genomics、Pharmacogenomics J、Hum Genet、Front Genet、J Cancer Res Clin等国际著名遗传学或肿瘤学SCI刊物上发表论文36篇，累积影响因子>150，累积SCI他引>700次；以合作作者在Science、J Natl Cancer Inst、Am J Hum Genet、Am J Resp Crit Care等国际著名SCI刊物上发表论文26篇，累积影响因子>150。曾获国家自然科学二等奖2项（均排名第五）、云南省自然科学特等奖和一等奖各1项（均排名第五）、云南省科学技术进步三等奖3项（分别排名第四、五、六）。应邀为Aging、Sci Rep-UK、Hum Genet、Curr Mol Med、Front Genet等国际SCI刊物审稿20余次。

二、主要研究领域及兴趣

恶性肿瘤（癌症）是人类目前首要的健康威胁，其发生过程涉及多种基因表达调控的紊乱，且表现出一定的个体差异和遗传倾向。这些个体差异源于人类基因组变异，通过调控相关基因表达而影响肿瘤发生。本实验室主要研究这些肿瘤相关基因及突变的定位、形式、功能及其作用机制。

三、承担的科研项目

1. 主持国家自然科学基金面上项目，DNA甲基化在寡孢节丛孢捕器形成过程中的作用及功能研究，2014.01.01-2017.12.31，31370129；

2. 主持国家自然科学基金地区科学基金项目，基于选择信号的UGT2B4上游增强子区功能与机理研究，2013.01.01-2016.12.31，31260266。

四、出版著作

张敏，顾蔚，孙昌，王小蕊，《遗传学实验指导》，2024，陕西师范大学出版社，参编。

五、代表性论文

以第一作者或通信作者(*)：

1. Zhang XX, Li YJ, Zhou XT, Song HL, Guo H, Li HY, Tian LY, Sun C*. (2025) rs604702 confers breast cancer risk by influencing PCAT18/miR-759/SPRR3 axis. Discover Oncology 16: 2039.

2. Peng T, Shi XQ, Guo H, Li HY, Zhou XT, Song HL, Zhang XX, Fu WP, Sun C*. (2025) Identification of rs2036527 as a cis-regulatory variant for CHRNA3 and CHRNA5 by allele-specific expression and implications for nicotine dependence and lung cancer. The American Journal on Addictions (in press).

3. Zhang XX, Yu XY, Xu SJ, Shi XQ, Chen Y, Shi Q, Sun C*. (2024) rs2736098, a synonymous polymorphism, is associated with carcinogenesis and cell count in multiple tissue types by regulating TERT expression. Heliyon 10: e27802.

4. Chen Y, Yu XY, Xu SJ, Shi XQ, Zhang XX, Sun C*. (2024) An indel introduced by Neanderthal introgression, rs3835124: ATTTATT>ATT, might contribute to prostate cancer risk by regulating PDK1 expression. Annals of Human Genetics 88: 126-137.

5. Li YK, Wang HY, Chen Y, Shi XQ, Zhang XX, Li K, Fu WP, Sun C*. (2023) rs6592645 confers asthma risk through regulating LRRC32 expression. Experimental and Therapeutic Medicine 26: 451.

6. Shi Q, Zhang XX, Shi XQ, Chen Y, Sun C*. (2023) Identification of rs2736099 as a novel cis-regulatory variation for TERT and implications for tumorgenesis and cell proliferation. Journal of Cancer Research and Clinical Oncology 149: 4515-4522.

7. Shi Q, Ruan J, Yang YC, Shi XQ, Liu SD, Wang HY, Zhang SJ, Wang SQ, Zhong L, Sun C*. (2023) rs66651343 and rs12909095 confer lung cancer risk by regulating CCNDBP1 expression. PLoS ONE 18: e0284347.

8. Wang PY, Yang Y, Shi XQ, Chen Y, Liu SD, Wang HY, Peng T, Shi Q, Zhang W, Sun C*. (2023) Distilling functional variations for human UGT2B4 upstream region based on selection signals and implications for phenotypes of Neanderthal and Denisovan. Scientific Reports 13: 3134.

9. He GH, Liu SD, Shi XQ, Chen Y, Su L, Shi QN, Sun C*. (2023) rs77283072 influences breast cancer susceptibility by regulating CDKN2A expression. Oncology Letters 25: 76.

10. Shi Q, Yao XY, Wang HY, Li YJ, Zhang XX, Sun C*. (2022) Breast cancer-associated SNP rs72755295 is a cis-regulatory variation for human EXO1. Genetics and Molecular Biology 45: e20210420.

11. Li YK, Zhang XX, Yang Y, Gao J, Shi Q, Liu SD, Fu WP, Sun C*. (2022) Convergent evidence supports TH2LCRR as a novel asthma susceptibility gene. American Journal of Respiratory Cell and Molecular Biology 66: 283-292. (同期评论见DOI: 10.1165/rcmb.2021-0534ED)

12. Shi Q, Shi QN, Xu JW, Wang HY, Li YJ, Zhang XX, Fu YH, Tian RH, Jiang R, Liu CC, Sun C*. (2022) rs9390123 and rs9399451 influence the DNA repair capacity of lung cancer by regulating PEX3 and PHACTR2-AS1 expression instead of PHACTR2. Oncology Reports 47: 59.

13. Meng YQ, Shi Q, Zhu SJ, He GH, Zhang SJ, Sun C*. (2021) Asbestos-induced lung cancer associated SNP rs13383928 regulates PTH2R expression in lung tissue. Human Heredity 85:40–44.

14. Peng T, Zhong L, Gao J, Wan Z, Fu WP, Sun C*. (2020) Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression. Molecular Genetics & Genomics 295: 23–30.

15. Li XX, Peng T, Gao J, Feng JG, Wu DD, Yang T, Zhong L, Fu WP, Sun C*. (2019) Allele-specific expression identified rs2509956 as a novel long-distance cis-regulatory SNP for SCGB1A1, an important gene for multiple pulmonary diseases. American Journal of Physiology-Lung Cellular and Molecular Physiology 317: L456-L463.

16. Wu DD, Long FQ, Gao J, Zhong L, Sun C*. (2019) HPV6 and HPV11 genome methylation in condyloma accuminatum measured by bisulfite sequencing. The American Journal of Dermatopathology 41:534-535.

17. Yang YC, Fu WP, Zhang J, Zhong L, Cai SX, Sun C*. (2018) rs401681 and rs402710 confer lung cancer susceptibility by regulating TERT expression instead of CLPTM1L in East Asian populations. Carcinogenesis 39: 1216-1221.

18. Ruan J, Yang YC, Long FQ, Sun C*. (2018) rs294775 is a cis-regulatory SNP for human UGT2B10. Clinical and Experimental Pharmacology and Physiology 45: 614-616.

19. Wang YA, Yang YC, Long FQ, Sun C*. (2018) rs142362919 and rs7681187 are cis-regulatory variations for human UGT2B28 in breast. The Journal of Clinical Pharmacology 58:558-560.

20. 吴丹丹，阮伋，王永安，孙昌*. (2017) Phred/Phrap/Consed/Polyphred: 基于类Unix平台的测序数据管理和SNP自动识别、标记与输出软件包. 生物信息学 15: 196-200.

21. Sun C, McAndrew T, Smith BC, Chen Z, Frimer M, Burk RD. (2014) Characterization of HPV DNA methylation of contiguous CpG sites by bisulfite treatment and massively parallel sequencing - the FRAGMENT approach. Frontiers in Genetics 5: 150.

22. Li H, Giger ML, Sun C (共同第一作者), Ponsukcharoen U, Huo D, Lan L, Olopade OI, Jamieson AR, Brown JB, Di Rienzo A. (2014) Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers. Medical Physics 41:031917.

23. Wang PY, Huo D, Sun C*, Olopade OI. (2013) The use of allelic imbalance to ascertain cis-regulation for human UGT2B7 in vivo. European Journal of Clinical Pharmacology 69:1733–1735.

24. Wentzensen N, Sun C (共同第一作者), Ghosh A, Kinney W, Mirabello L, Wacholder, Shaber R, LaMere B, Clarke M, Lorincz AT, Castle PE, Schiffman M, Burk RD. (2012) Methylation of HPV18, HPV31, and HPV45 Genomes and Cervical Intraepithelial Neoplasia Grade 3. Journal of National Cancer Institute 104: 1738–1749.

25. Sun C, Huo D, Nemesure B, Hennis A, Leske MC, Wu S-Y, Niu Q, Olopade OI, Di Rienzo A. (2012) Lack of association between common UGT2B nonsynonymous SNPs and breast cancer in populations of African ancestry. International Journal of Cancer 130: 2740–2742.

26. Sun C, Southard C, Huo D, Hernandez RD, Witonsky DB, Olopade OI, Di Rienzo A. (2012) SNP discovery, expression, and cis-regulation variation in the UGT2B family. The Pharmacogenomics Journal 12: 287–296.

27. Sun C, Huo D, Southard C, Nemesure B, Hennis A, Leske MC, Wu S-Y, Witonsky DB, Olopade OI, Di Rienzo A. (2011) A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk. Human Genetics 130: 767–775.

28. Sun C, Southard C, Olopade OI, Di Rienzo A. (2011) Differential allelic expression of c.1568C>A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR. Gene 481: 24–28.

29. Sun C, Reimers LL, Burk RD. (2011) Methylation of HPV16 genome CpG sites is associated with cervix precancer and cancer. Gynecologic Oncology 121: 59–63.

30. Sun C, Southard C, Witonsky DB, Kittler R, Di Rienzo A. (2010) Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations. PLoS Genetics 6: e1001178.

31. Sun C, Olopade OI, Di Rienzo A. (2010) rs2981582 is associated with FGFR2 expression in normal breast. Cancer Genetics and Cytogenetics 197: 193–194. (杂志后更名为Cancer Genetics)

32. Sun C, Southard C, Witonsky DB, Olopade OI, Di Rienzo A. (2010) Allelic imbalance (AI) identifies novel tissue specific cis-regulatory variation for human UGT2B15. Human Mutation 31: 99–107. (同期评论见DOI: 10.1002/humu.21174)

33. Sun C*, Southard C, Di Rienzo A. (2009) Characterization of a novel splicing variant in RAPTOR. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 662: 88–92.

34. Sun C, Di Rienzo A. (2009) UGT2B7 is not expressed in normal breast. Breast Cancer Research and Treatment 117:225–226.

35. Sun C, Kong QP, Zhang YP. (2007) The role of climate in human mitochondrial DNA evolution: a reappraisal. Genomics 89:338–342.

36. Sun C, Kong QP, Palanichamy MG, Agrawal S, Bandelt HJ, Yao YG, Khan F, Zhu CL, Chaudhuri TK, Zhang YP. (2006) The Dazzling Array of Basal Branches in the mtDNA Macrohaplogroup M from India as Inferred from Complete Genomes. Molecular Biology and Evolution 23:683–690.

37. Palanichamy MG, Sun C (共同第一作者), Agrawal S, Bandelt HJ, Kong QP, Khan F, Wang CY, Chaudhuri TK, Palla V, Zhang YP. (2004) Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. The American Journal of Human Genetics 75:966–978.

以合作作者：

1. Li JX, Huang XZ, Fu WP, Zhang XH, Mauki DH, Zhang J, Sun C, Dai LM, Zhong L, Yu L, Zhang YP (2023) Remote regulation of rs80245547 and rs72673891 mediated by transcription factors C-Jun and CREB1 affect GSTCD expression. iScience 26: 107383.

2. Liu J, Li Y, Chen XQ, Sun C, Sun XL, Yang Z, Kong QP. (2020) rs11046147 mutation in the promoter region of lactate dehydrogenase-B as a potential prognosis marker of triple-negative breast cancer. Cancer Communications 40:279-282.

3. Zhao L, Sun C, Li M, Wang Q, Long FQ. (2019) Tumor necrosis factor –238A is associated with pediatriconset generalized pustular psoriasis in Han patients in Eastern China. The Journal of Dermatology 46:1031-1034.

4. Li JX, Fu WP, Zhang J, Zhang XH, Sun C, Dai LM, Zhong L, Yu L, Zhang YP. (2018) A functional SNP upstream of the ADRB2 gene is associated with COPD. International Journal of Chronic Obstructive Pulmonary Disease 13: 917-925.

5. Li QG, He YH, Wu H, Yang CP, Pu SY, Fan SQ, Jiang LP, Shen QS, Wang XX, Chen XQ, Yu Q, Li Y, Sun C, Wang X, Zhou J, Li HP, Chen YB, Kong QP. (2017) A Normalization-Free and Nonparametric Method Sharpens Large-Scale Transcriptome Analysis and Reveals Common Gene Alteration Patterns in Cancers. Theranostics 7:2888-2899.

6. Frimer M, Sun C, McAndrew T, Smith B, Harari A, Chen Z, Mirabello L, Wentzensen N, Goldberg GL, Rodriguez AC, Schiffman M, Burk RD.(2015) HPV16 CpG methyl-haplotypes are associated with cervix precancer and cancer in the Guanacaste natural history study. Gynecologic Oncology 138:94-100.

7. Zhong L, Tang J, Kong QP, Sun C, Zhou WP, Yang M, Yao YG, Zhang YP. (2014) Reappraising the relationship between mitochondrial DNA variant m.16189T>C and type 2 diabetes mellitus in East Asian populations. Current Molecular Medicine 14: 1273-1278.

8. Liu W, Ramírez J, Gamazon ER, Mirkov S, Chen P, Wu K, Sun C, Cox NJ, Cook E Jr, Das S, Ratain MJ. (2014) Genetic Factors Affecting Gene Transcription and Catalytic Activity of UDP-Glucuronosyltransferases in Human Liver. Human Molecular Genetics 23: 5558–5569.

9. Jiang D, Zhu W, Wang Y, Sun C, Zhang KQ, Yang J. (2013) Molecular tools for functional genomics in filamentous fungi: Recent advances and new strategies. Biotechnology Advances 31:1562–1574.

10. Cheng YT, Liu J, Yang LQ, Sun C, Kong QP. (2013) Mitochondrial DNA Content Contributes to Climate Adaptation Using Chinese Populations as a Model. PLoS ONE 8: e79536.

11. Mirabello L, Sun C, Ghosh A, Rodriguez AC, Schiffman M, Wentzensen N, Hildesheim A, Herrero R, Wacholder S, Lorincz AT, Burk RD. (2012) Methylation of Human Papillomavirus Type 16 Genome and Risk of Cervical Precancer in a Costa Rican Population. Journal of National Cancer Institute 104: 556–565.

12. Fu WP, Zhao ZH, Zhong L, Sun C, Fang LZ, Liu L, Zhang ZQ, Wang L, Shu JK, Wang XM, Dai LM. (2011) Relationship between polymorphisms of the 5’ LC, 16 and 27 position of ADRB2 and asthma in the Han population from Southwest China. Respirology 16:1221–1227.

13. Bottalico D, Chen Z, Dunne A, Ostoloza J, McKinney S, Sun C, Schlecht NF, Fatahzadeh M, Herrero R, Schiffman M, Burk R. (2011) The oral cavity contains abundant known and novel Human papillomaviruses from the Betapapillomavirus and Gammapapillomavirus genera. The Journal of Infectious Diseases 204:787–792.

14. Kong QP, Sun C, Wang HW, Zhao M, Wang WZ, Zhong L, Hao XD, Pan H, Wang SY, Cheng YT, Zhu CL, Wu SF, Liu LN, Jin JQ, Yao YG, Zhang YP. (2011) Large-scale mtDNA screening reveals a surprising matrilineal complexity in East Asia and its implications to the peopling of the region. Molecular Biology and Evolution 28: 513–522.

15. Zhong L, Zhang YP, Fu WP, Dai LM, Sun C, Wang YQ. (2010) The relationship between GSTP1 I105V polymorphism and COPD: a reappraisal. American Journal of Respiratory and Critical Care Medicine 181: 763–765.

16. Zhong L, Fu WP, Sun C, Dai LM, Zhang YP. (2009) Absence of association between SERPINE2 genetic polymorphisms and chronic obstructive pulmonary disease in Han Chinese: a case-control cohort study. BMC Medical Genetics 10:66.

17. Zhang W, He L, Liu W, Sun C, Ratain MJ. (2009) Exploring the relationship between polymorphic (TG/CA)_n repeats in intron 1 regions and gene expression. Human Genomics 3: 236–245.

18. Kong QP, Salas A, Sun C, Fuku N, Tanaka M, Zhong L, Wang CY, Yao YG, Bandelt HJ. (2008) Distilling artificial recombinants from large sets of complete mtDNA genomes. PLoS ONE 3:e3016.

19. Fu WP, Zhao ZH, Fang LZ, Sun C, Liu L, Zhang JQ, Zhang YP, Dai LM. (2007) Heme oxygenase-1 polymorphism associated with severity of chronic obstructive pulmonary disease. Chinese Medical Journal 120:12–16.

20. Fu WP, Sun C, Dai LM, Yang LF, Zhang YP. (2007) Relationship between COPD and polymorphisms of HOX-1 and mEPH in a Chinese population. Oncology Reports 17:483–488.

21. Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang YP. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Human Molecular Genetics. 15:2076–2086.

22. Palanichamy MG, Agrawal S, Yao YG, Kong QP, Sun C, Khan F, Chaudhuri TK, Zhang YP. (2006) Comment on “Reconstructing the origin of Andaman islanders”. Science 311:470a.

23. Bandelt HJ, Achilli A, Kong QP, Salas A, LutzBonengel S, Sun C, Zhang YP, Torroni A, Yao YG. (2005) Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. Biochemical and Biophysical Research Communications 333:122–130.

24. Long F, Sun C, Deng D, Zhou X, Li XP, Zhang YP. (2004) TNF-238A is associated with juvenile onset psoriasis in patients of Han population in Southwest China. Journal of Dermatological Science 36:109–111.

25. Kong QP, Yao YG, Sun C, Zhu CL, Zhong L, Wang CY, Cai WW, Xu XM, Xu AL, and Zhang YP. (2004) Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic. Journal of Human Genetics 49:414–423.

26. Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP. (2003) Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. The American Journal of Human Genetics 73: 671–676.

27. Yao YG, Kong QP, Sun C, Zhang YP. (2003) Can the occurrence of rare insertion/deletion polymorphisms in human mtDNA be verified from phylogeny? Chinese Science Bulletin 48: 663–667.

六、获奖情况

1.《基因组多样性与亚洲人群的演化》，2014年获国家自然科学二等奖，第五完成人；

2.《中国群体慢性气道疾病的遗传机理和药物反应研究与应用》，2014年获云南省科学技术进步三等奖，第五完成人；

3.《基因组多样性与亚洲人群的演化》，2013年获云南省自然科学特等奖，第五完成人；

4.《中国人群氧化抑制物遗传多态性与COPD关系研究》，2007年获云南省科学技术进步三等奖，第六完成人；

5.《线粒体基因组多样性与东亚人群历史的研究》，2006年获国家自然科学二等奖，第五完成人；

6.《线粒体基因组多样性与东亚人群历史的研究》，2005年获云南省自然科学一等奖，第五完成人；

7.《云南汉族人TNF-α基因启动子多态性与寻常型银屑病的研究》，2005年获云南省科学技术进步三等奖，第五完成人。