[1] Ku CS, Loy EY, Pawitan Y, Chia KS. The pursuit of genome-wide association studies: where are we now? J Hum Genet, 2010, 55(4): 195-206.[2] McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JPA, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet, 2008, 9(5): 356-369.[3] Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Hum Genet, 2012, 90(1): 7-24.[4] Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science, 2005, 308(5720): 385-389.[5] The Wellcome Trust Case Control Consortium. Genome- wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature, 2007, 447 (7145): 661-678.[6] 韩建文, 张学军. 全基因组关联研究现状. 遗传, 2011, 33(1): 25-35.[7] World Health Organization. Global tuberculosis control 2011. Geneva, Switzerland: WHO, 2011.[8] Qu HQ, Fisher-Hoch SP, McCormick JB. Knowledge gaining by human genetic studies on tuberculosis susceptibility. J Hum Genet, 2011, 56(3): 177-182.[9] Stein CM. Genetic epidemiology of tuberculosis susceptibility: impact of study design. PLoS Pathog, 2011, 7(1): e1001189.[10] Yim JJ, Selvaraj P. Genetic susceptibility in tuberculosis. Respirology, 2010, 15(2): 241-256.[11] Ben-Selma W, Harizi H, Letaief M, Boukadida J. Age- and gender-specific effects on NRAMP1 gene polymorphisms and risk of the development of active tuberculosis in Tunisian populations. Int J Infect Dis, 2012, 16(7): e543-e550.[12] Ates O, Dolek B, Dalyan L, Musellim B, Ongen G, Topal-Sarikaya A. The association between BsmI variant of vitamin D receptor gene and susceptibility to tuberculosis. Mol Biol Rep, 2011, 38(4): 2633-2636.[13] Bonar A, Chmiela M, Rozalska B. Level of mannose-binding lectin (MBL) in patients with tuberculosis. Pneumonol Alergol Pol, 2004, 72(5-6): 201-205.[14] Moller M, Hoal EG. Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis. Tuberculosis, 2010, 90(2): 71-83.[15] Keicho N, Hijikata M, Sakurada S. Human genetic susceptibility to tuberculosis. Nihon Rinsho, 2011, 69(8): 1363-1367.[16] Miao R, Li JQ, Sun ZP, Xu F, Shen HB. Meta-analysis on the association of TIRAP S180L variant and tuberculosis susceptibility. Tuberculosis, 2011, 91(3): 268-272.[17] Feng WX, Flores-Villanueva PO, Mokrousov I, Wu XR, Xiao J, Jiao WW, Sun L, Miao Q, Shen C, Shen D, Liu F, Jia ZW, Shen A. CCL2-2518 (A/G) polymorphisms and tuberculosis susceptibility: a meta-analysis. Int J Tuberc Lung Dis, 2012, 16(2): 150-156.[18] 石彦杰, 蒋海山, 王群. 常见结核病易感基因的研究现状. 中华传染病杂志, 2012, 30(3): 189-192.[19] 王丹妹, 何佟, 虞道锐, 吉丽敏, 莫燕娜. 基因多态性与结核病关系的研究进展. 现代预防医学, 2011, 38(13): 2570-2571, 2574.[20] 马麦卷, 刘玮, 曹务春. 结核病易感基因研究进展. 中华流行病学杂志, 2011, 32(7): 650-656.[21] Cao S, Luo PF, Li W, Tang WQ, Cong XN, Wei PM. Vitamin D receptor genetic polymorphisms and tuberculosis among Chinese Han ethnic group. Chin Med J (Engl), 2012, 125(5): 920-925.[22] Zhang J, Chen Y, Nie XB, Wu WH, Zhang H, Zhang M, He XM, Lu JX. Interleukin-10 polymorphisms and tuberculosis susceptibility: a meta-analysis. Int J Tuberc Lung Dis, 2011, 15(5): 594-601.[23] Thye T, Vannberg FO, Wong SH, Owusu-Dabo E, Osei I, Gyapong J, Sirugo G, Sisay-Joof F, Enimil A, Chinbuah MA, Floyd S, Warndorff DK, Sichali L, Malema S, Hill AVS. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. Nat Genet, 2010, 42(9): 739-741.[24] Jallow M, Teo YY, Small KS, Rockett KA, Deloukas P, Clark TG, Kivinen K, Bojang KA, Conway DJ, Pinder M, Sirugo G, Sisay-Joof F, Usen S, Auburn S, Bumpstead SJ, Wilson M, Kwiatkowski DP, Wellcome Trust Case Control Consortium, Malaria Genomic Epidemiology Network. Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet, 2009, 41(6): 657-665.[25] Thye T, Owusu-Dabo E, Vannberg FO, van Crevel R, Curtis J, Sahiratmadja E, Balabanova Y, Ehmen C, Muntau B, Ruge G, Sievertsen J, Gyapong J, Nikolayevskyy V, Hill PC, Sirugo G, Drobniewski F, van de Vosse E, Newport M, Alisjahbana B, Nejentsev S, Ottenhoff TH, Hill AVS, Horstmann RD, Meyer CG. Common variants at 11p13 are associated with susceptibility to tuberculosis. Nat Genet, 2012, 44(3): 257-259.[26] Clarke L, Zheng-Bradley XQ, Smith R, Kulesha E, Xiao CL, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P. The 1000 Genomes Project: data management and community access. Nat Methods, 2012, 9(5): 459-462.[27] Sciesielski LK, Kirschner KM, Scholz H, Persson AB. Wilms' tumor protein Wt1 regulates the Interleukin-10 (IL-10) gene. FEBS Lett, 2010, 584(22): 4665-4671.[28] Lewis SJ, Baker I, Davey Smith G. Meta-analysis of vitamin D receptor polymorphisms and pulmonary tuberculosis risk. Int J Tuberc Lung Dis, 2005, 9(10): 1174-1177.[29] Ottenhoff TH, Verreck FA, Hoeve MA, van de Vosse E. Control of human host immunity to mycobacteria. Tuberculosis, 2005, 85(1-2): 53-64.[30] Png E, Alisjahbana B, Sahiratmadja E, Marzuki S, Nelwan R, Balabanova Y, Nikolayevskyy V, Drobniewski F, Nejentsev S, Adnan I, van de Vosse E, Hibberd ML, van Crevel R, Ottenhoff TH, Seielstad M. A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. BMC Med Genet, 2012, 13: 5.[31] Azad AK, Sadee W, Schlesinger LS. Innate immune gene polymorphisms in tuberculosis. Infect Immun, 2012, 80(10): 3343-3359.[32] Mahasirimongkol S, Yanai H, Mushiroda T, Promphittayarat W, Wattanapokayakit S, Phromjai J, Yuliwulandari R, Wichukchinda N, Yowang A, Yamada N, Kantipong P, Takahashi A, Kubo M, Sawanpanyalert P, Kamatani N, Nakamura Y, Tokunaga K. Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis. J Hum Genet, 2012, 57(6): 363-367.[33] Berry MP, Graham CM, McNab FW, Xu ZH, Bloch SA, Oni T, Wilkinson KA, Banchereau R, Skinner J, Wilkinson RJ, Quinn C, Blankenship D, Dhawan R, Cush JJ, Mejias A, Ramilo O, Kon OM, Pascual V, Banchereau J, Chaussabel D, O'Garra A. An interferon-inducible neutrophil-driven blood transcriptional signature in human tuberculosis. Nature, 2010, 466(7309): 973-977.[34] Dai YY, Zhang X, Pan HQ, Tang SW, Shen HB, Wang JM. Fine mapping of genetic polymorphisms of pulmonary tuberculosis within chromosome 18q11.2 in the Chinese population: a case-control study. BMC Infect Dis, 2011, 11: 282.[35] Ji LD, Chai PF, Zhou BB, Tang NL, Xing WH, Yuan F, Fei LJ, Zhang LN, Xu J. Lack of association between polymorphisms from genome-wide association studies and tuberculosis in the Chinese population. Scand J Infect Dis, 2013, 45(4): 310-314.[36] Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet, 2003, 361(9360): 865-872.[37] Stein CM, Baker AR. Tuberculosis as a complex trait: impact of genetic epidemiological study design. Mamm Genome, 2011, 22(1-2): 91-99.[38] Lin ZM, Bei JX, Shen MX, Li QX, Liao ZT, Zhang YL, Lv Q, Wei QJ, Low HQ, Guo YM, Cao SY, Yang MC, Hu ZY, Xu ML, Wang XW, Wei YL, Li L, Li C, Li TW, Huang JL, Gu JR. A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nat Genet, 2011, 44(1): 73-77.[39] Zhang FR, Liu H, Chen SM, Low HQ, Sun LD, Cui Y, Chu TS, Li Y, Fu XA, Yu YX, Yu GQ, Shi BQ, Tian HQ, Liu DC, Yu XL, Li JH, Lu N, Bao FF, Yuan CY, Liu J, Liu HX, Zhang XJ. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Nat Genet, 2011, 43(12): 1247-1251.[40] Sun LD, Cheng H, Wang ZX, Zhang AP, Wang PG, Xu JH, Zhu QX, Zhou HS, Ellinghaus E, Zhang FR, Pu XM, Yang XQ, Zhang JZ, Xu AE, Wu RN, Xu LM, Peng L, Helms CA, Zhang XJ. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet, 2010, 42(11): 1005-1009.[41] Quan C, Ren YQ, Xiang LH, Sun LD, Xu AE, Gao XH, Chen HD, Pu XM, Wu RN, Liang CZ, Li JB, Gao TW, Zhang JZ, Wang XL, Wang J, Yang RY, Liang L, Yu JB, Zhang XJ. Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet, 2010, 42(7): 614-618.[42] Russell DG. Mycobacterium tuberculosis: here today, and here tomorrow. Nat Rev Mol Cell Biol, 2001, 2(8): 569-577.[43] Caws M, Thwaites G, Dunstan S, Hawn TR, Lan NTN, Thuong NTT, Stepniewska K, Huyen MNT, Bang ND, Loc TH, Gagneux S, van Soolingen D, Kremer K, van der Sande M, Farrar J. The influence of host and bacterial genotype on the development of disseminated disease with Mycobacterium tuberculosis. PLoS Pathog, 2008, 4(3): e1000034.[44] van Crevel R, Parwati I, Sahiratmadja E, Marzuki S, Ottenhoff TH, Netea MG, van der Ven A, Nelwan RH, van der Meer JW, Alisjahbana B, van de Vosse E. Infection with Mycobacterium tuberculosis Beijing genotype strains is associated with polymorphisms in SLC11A1/NRAMP1 in Indonesian patients with tuberculosis. J Infect Dis, 2009, 200(11): 1671-1674.[45] Intemann CD, Thye T, Niemann S, Browne EN, Amanua Chinbuah M, Enimil A, Gyapong J, Osei I, Owusu-Dabo E, Helm S, Rüsch-Gerdes S, Horstmann RD, Meyer CG. Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains. PLoS Pathog, 2009, 5(9): e1000577.[46] Newport MJ. Why hasn't human genetics told us more about tuberculosis? Int J Tuberc Lung Dis, 2009, 13(9): 1049-1050.[47] Velez DR, Hulme WF, Myers JL, Weinberg JB, Levesque MC, Stryjewski ME, Abbate E, Estevan R, Patillo SG, Gilbert JR, Hamilton CD, Scott WK. NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans. Hum Genet, 2009, 126(5): 643-653.[48] Velez DR, Hulme WF, Myers JL, Stryjewski ME, Abbate E, Estevan R, Patillo SG, Gilbert JR, Hamilton CD, Scott WK. Association of SLC11A1 with tuberculosis and interactions with NOS2A and TLR2 in African-Americans and Caucasians. Int J Tuberc Lung Dis, 2009, 13(9): 1068-1076.[49] Stein CM, Zalwango S, Chiunda AB, Millard C, Leontiev DV, Horvath AL, Cartier KC, Chervenak K, Boom WH, Elston RC, Mugerwa RD, Whalen CC, Iyengar SK. Linkage and association analysis of candidate genes for TB and TNFα cytokine expression: evidence for association with IFNGR1, IL-10, and TNF receptor 1 genes. Hum Genet, 2007, 121(6): 663-673.[50] Nicol MP, Wilkinson RJ. The clinical consequences of strain diversity in Mycobacterium tuberculosis. Trans R Soc Trop Med Hyg, 2008, 102(10): 955-965.[51] Sirugo G, Hennig BJ, Adeyemo AA, Matimba A, Newport MJ, Ibrahim ME, Ryckman KK, Tacconelli A, Mariani- Costantini R, Novelli G, Soodyall H, Rotimi CN, Ramesar RS, Tishkoff SA, Williams SM. Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics. Hum Genet, 2008, 123(6): 557-598. |