1.常见自身免疫性疾病易感基因的鉴定及其发生的遗传学机制

2.罕见孟德尔遗传病致病基因的鉴定分离及功能分析

1. ETS-1基因在系统性红斑狼疮发生中的机制研究

国家自然科学基金2011.1-2013.12

2. 一新的常染色体显性遗传性痉挛性截瘫大家系致病基因的定位候选克隆

国家自然科学基金2008.1—2010.12

3. 遗传性痉挛性截瘫发生的分子机理研究

山东省中青年科学家奖励基金2008.1-2010.12

4. 汉族人群哮喘易感基因的候选基因关联分析

山东省卫生系统杰出人才计划2009.1-2011.12

5. TIM基因家族在哮喘发生中的作用机制研究

国家自然科学基金2007.1-2009.12

6. 中国汉族人群哮喘易感基因的相关研究

国家自然科学基金2004.1-2006.12

复杂疾病研究方向：

1.Shan S, Dang J, Li J, Yang Z, Zhao H, Xin Q, Ma X, Liu Y, Bian X, Gong Y,Liu Q.ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese.Arthritis Res Ther.2014 Apr 4;16(2):R87.

2. Ma X, Liu Y, Zhang H, Qiu R, Zhao H, Xin Q, Shan S, Dang J, Li J, Yang Z, Gong Y,Liu Q.Evidence for genetic association of CARD9 and SNAPC4 with ankylosing spondylitis in a Chinese Han population.J Rheumatol. 2014 Feb;41(2):318-24.

3. Dang J, Shan S, Li J, Zhao H, Xin Q, Liu Y, Bian X,Liu Q.Gene-gene Interactions of IRF5, STAT4, IKZF1 andETS1in systemic lupus erythematosus.Tissue Antigens. 2014 Jun;83(6):401-8

4. Qiu R, Zhang H, Zhao H, Li J, Guo C, Gong Y,Liu Q.Genetic variants on 17q21 are associated with ankylosing spondylitis susceptibility and severity in a Chinese Han population.Scand J Rheumatol.2013;42(6):469-72.

5. Liu Y, Zhang H, Li J, Zhao H, Xin Q, Shan S, Dang J, Bian X,Liu Q.Association of common variants in KIF21B and ankylosing spondylitis in a Chinese Han population: a replication study.Immunogenetics.2013 Dec;65(12):835-9.

6. Zhao H, Yang W, Qiu R, Li J, Xin Q, Wang X, Feng Y, Shan S, Liu Y, Gong Y,Liu Q.An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4.Genes Immun.2012 Oct;13(7):536-42.

7. Fang Q, Zhao H, Wang A, Gong Y,Liu Q.Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population.BMC Med Genet.2011 Oct 11;12:133.

8. Guo C, Xia Y, Yang Q, Qiu R, Zhao H,Liu Q.Association of the ANTXR2 gene polymorphism and ankylosing spondylitis in Chinese Han.Scand J Rheumatol.2012 Feb;41(1):29-32.

9. Zhao B, Abdelmoudjib G, Li J, Li H, Wei C, Gong Y,Liu Q.Two polymorphisms in the TIM-4 gene are associated with asthma in a Chinese han population.Int J Immunogenet.2010 Aug 19. [Epub ahead of print]

10. Yang W, Shen N, Ye DQ,Liu Q,et al.Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus.PLoS Genet.2010 Feb 12;6(2):e1000841

11. Saadi A, Gao G, Li H, Wei C, Gong Y,Liu Q. Association study between vitamin D receptor gene polymorphisms and asthma in the Chinese Han population: a case-control study.BMC Med Genet.2009 Jul 21;10:71

12.Liu Q,Xia Y, Zhang W, Li J, Wang P, Li H, Wei C, Gong Y.A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population.BMC Med Genet.2009 Jun 17;10:59.

13. Li J,Liu Q, Wang P, Li H, Wei C, Guo C, Gong Y.Lack of associationbetween three promoter polymorphisms of PTGDR gene and asthma in a Chinese Han population.Int J Immunogenet.2007 Oct;34(5):353-7.

14. Liu QJ, Lin SS, Wang P, et al.A functional polymorphism of Tim-1 promoter region is associated with asthma in a Chinese population.International Archives of Allergy and Immunology, 2007,144:197-202.

15. Wang P,Liu QJ, Li JS, et al.Lack of association between ADAM33 gene and asthma in Chinese population.International Journal of Immunogenetics,2006,8:303-306.

16. Li JS,Liu QJ, Wang P, et al.Absence of association between two insertion/deletion coding genetic polymorphisms of TIM-1 gene and asthma in Chinese Han population.International Journal of Immunogenetics,2006,12:417-421.

罕见孟德尔遗传病研究方向：

1. Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y,Liu Q.Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.Eur J Hum Genet. 2014 Feb 5. doi: 10.1038/ejhg.2014.7.

2. Feng Y,Ke X,Zhai M,Xin Q,Gong Y,Liu Q.Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.Singapore Med J. 2013 May;54(5):251-4

3. Qiu R, Yang Y, Zhao H, Li J, Xin Q, Shan S, Liu Y, Dang J, Yu X, Gong Y,Liu Q.Signal transducer and activator of transcription 6 directly regulates human ORMDL3 expression.FEBS J.2013 May;280(9):2014-26.

4. Xin Q, Li L, Li J, Qiu R, Guo C, Gong Y,Liu Q.Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.Gene.2012 May 10;499(1):48-51.

5. Wang X, Li L, Li J, Sun J, Heng X, Gong Y,Liu Q.Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma.Genet Test Mol Biomarkers.2012 Jul;16(7):827-32.

6. Lin P, Mao F,Liu Q,Yang W, Shao C, Yan C, Gong Y.A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.Muscle Nerve.2010 Dec;42(6):922-6.

7. Lin P, Mao F,Liu Q,Shao C, Yan C, Gong Y.Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred. Prenat Diagn. 2010 May;30(5):485-6.

8. Zou Y, Mi J, Cui J, Lu D, Zhang X, Guo C, Gao G,Liu Q,Chen B, Shao C, Gong Y. Characterization of nuclear localization signal in the N terminus of CUL4B and its essential role in cyclin E degradation and cell cycle progression.J Biol Chem.2009 Nov 27;284(48):33320-32

9. Lin P, Li J,Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y.A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42) .Am J Hum Genet.2008 Dec;83(6):752-9.

10. Xia Y, Jiang B, Zou Y, Gao G, Shang L, Chen B,Liu Q,Gong Y.Sp1 and CREB regulate basal transcription of the human SNF2L gene.Biochem Biophys Res Commun.2008 Apr 4;368(2):438-44.

11. Zou Y, Liu Q,Chen B, Zhang X, Guo C, Zhou H, Li J, Gao G, Guo Y, Yan C, Wei J, Shao C, Gong Y. Mutation in CUL4B, a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.American Journal of Human Genetics,2007, 80: 561-566.

12. Zhu G, Ke X,Liu Q, Li J, Chen B, Shao C, Gong Y.Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a Mutational hot spot in the Indian hedgehog gene.Am J Med Genet A. 2007 Jun1;143(11):1246-8.

13. Zhang X,Liu Q,Chen B, et al. A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3.Am J Med Genet A. 2004,129(3):286-9

14. Liu Q,Gong Yaoqin, Zhang XY, et al. Candidate gene analysis ofSmith-Fineman-Myers Syndrome.Journal of Shandong University (health Sciences), 2004,42(1):29-31

15. Liu Q, Gong YQ, Zhang XY, et al. Characterization of genomic structure and mutation analysis of SMARCA1 gene in a Smith-Fineman-Myers syndrome family.Yi Chuan Xue Bao, 2004,31(2):114-8