{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T17:22:56Z","timestamp":1750699376767},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2013,1,17]],"date-time":"2013-01-17T00:00:00Z","timestamp":1358380800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2013,1,17]],"date-time":"2013-01-17T00:00:00Z","timestamp":1358380800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1038\/gene.2012.61","type":"journal-article","created":{"date-parts":[[2013,1,17]],"date-time":"2013-01-17T14:40:26Z","timestamp":1358433626000},"page":"99-106","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene"],"prefix":"10.1038","volume":"14","author":[{"given":"A K","family":"Azad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Papp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Webb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Knoell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Sadee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L S","family":"Schlesinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,1,17]]},"reference":[{"key":"BFgene201261_CR1","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1056\/NEJM198803243181202","volume":"318","author":"TI Sorensen","year":"1988","unstructured":"Sorensen TI, Nielsen GG, Andersen PK, Teasdale TW . Genetic and environmental influences on premature death in adult adoptees. N Engl J Med 1988; 318: 727\u2013732.","journal-title":"N Engl J Med"},{"key":"BFgene201261_CR2","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1038\/35103577","volume":"2","author":"GS Cooke","year":"2001","unstructured":"Cooke GS, Hill AV . Genetics of susceptibility to human infectious disease. Nat Rev Genet 2001; 2: 967\u2013977.","journal-title":"Nat Rev Genet"},{"key":"BFgene201261_CR3","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1146\/annurev.genet.40.110405.090546","volume":"40","author":"AV Hill","year":"2006","unstructured":"Hill AV . Aspects of genetic susceptibility to human infectious diseases. Annu Rev Genet 2006; 40: 469\u2013486.","journal-title":"Annu Rev Genet"},{"key":"BFgene201261_CR4","doi-asserted-by":"publisher","first-page":"3343","DOI":"10.1128\/IAI.00443-12","volume":"80","author":"AK Azad","year":"2012","unstructured":"Azad AK, Sadee W, Schlesinger LS . Innate immune gene polymorphisms in tuberculosis. Infect Immun 2012; 80: 3343\u20133359.","journal-title":"Infect Immun"},{"key":"BFgene201261_CR5","doi-asserted-by":"publisher","first-page":"102","DOI":"10.2174\/138945008783502467","volume":"9","author":"JB Torrelles","year":"2008","unstructured":"Torrelles JB, Azad AK, Henning LN, Carlson TK, Schlesinger LS . Role of C-type lectins in mycobacterial infections. Curr Drug Targets 2008; 9: 102\u2013112.","journal-title":"Curr Drug Targets"},{"key":"BFgene201261_CR6","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.coi.2004.12.001","volume":"17","author":"EP McGreal","year":"2005","unstructured":"McGreal EP, Miller JL, Gordon S . Ligand recognition by antigen-presenting cell C-type lectin receptors. Curr Opin Immunol 2005; 17: 18\u201324.","journal-title":"Curr Opin Immunol"},{"key":"BFgene201261_CR7","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s00439-003-0956-y","volume":"113","author":"NJ Bray","year":"2003","unstructured":"Bray NJ, Buckland PR, Owen MJ, O\u2019Donovan MC . Cis-acting variation in the expression of a high proportion of genes in human brain. Hum Genet 2003; 113: 149\u2013153.","journal-title":"Hum Genet"},{"key":"BFgene201261_CR8","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1126\/science.1072545","volume":"297","author":"H Yan","year":"2002","unstructured":"Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW . Allelic variation in human gene expression. Science 2002; 297: 1143.","journal-title":"Science"},{"key":"BFgene201261_CR9","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1038\/clpt.2008.194","volume":"85","author":"AD Johnson","year":"2009","unstructured":"Johnson AD, Gong Y, Wang D, Langaee TY, Shin J, Cooper-DeHoff RM et al. Promoter polymorphisms in ACE (angiotensin I-converting enzyme) associated with clinical outcomes in hypertension. Clin Pharmacol Ther 2009; 85: 36\u201344.","journal-title":"Clin Pharmacol Ther"},{"key":"BFgene201261_CR10","doi-asserted-by":"publisher","first-page":"20552","DOI":"10.1073\/pnas.0707106104","volume":"104","author":"Y Zhang","year":"2007","unstructured":"Zhang Y, Bertolino A, Fazio L, Blasi G, Rampino A, Romano R et al. Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proc Natl Acad Sci USA 2007; 104: 20552\u201320557.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFgene201261_CR11","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.pharmthera.2004.11.001","volume":"106","author":"AD Johnson","year":"2005","unstructured":"Johnson AD, Wang D, Sadee W . Polymorphisms affecting gene regulation and mRNA processing: broad implications for pharmacogenetics. Pharmacol Ther 2005; 106: 19\u201338.","journal-title":"Pharmacol Ther"},{"key":"BFgene201261_CR12","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1097\/FPC.0b013e3283050107","volume":"18","author":"AD Johnson","year":"2008","unstructured":"Johnson AD, Zhang Y, Papp AC, Pinsonneault JK, Lim JE, Saffen D et al. Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. Pharmacogenet Genomics 2008; 18: 781\u2013791.","journal-title":"Pharmacogenet Genomics"},{"key":"BFgene201261_CR13","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/sj.mp.4001923","volume":"12","author":"JE Lim","year":"2007","unstructured":"Lim JE, Pinsonneault J, Sadee W, Saffen D . Tryptophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 mRNA expression in human pons. Mol Psychiatry 2007; 12: 491\u2013501.","journal-title":"Mol Psychiatry"},{"key":"BFgene201261_CR14","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1038\/tpj.2010.28","volume":"11","author":"D Wang","year":"2011","unstructured":"Wang D, Guo Y, Wrighton SA, Cooke GE, Sadee W . Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs. Pharmacogenomics J 2011; 11: 274\u2013286.","journal-title":"Pharmacogenomics J"},{"key":"BFgene201261_CR15","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1289\/ehp.0211079","volume":"110","author":"G Wang","year":"2002","unstructured":"Wang G, Umstead TM, Phelps DS, Al Mondhiry H, Floros J . The effect of ozone exposure on the ability of human surfactant protein a variants to stimulate cytokine production. Environ Health Perspect 2002; 110: 79\u201384.","journal-title":"Environ Health Perspect"},{"key":"BFgene201261_CR16","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1042\/bj3210039","volume":"321","author":"AM Karinch","year":"1997","unstructured":"Karinch AM, DeMello DE, Floros J . Effect of genotype on the levels of surfactant protein A mRNA and on the SP-A2 splice variants in adult humans. Biochem J 1997; 321: 39\u201347.","journal-title":"Biochem J"},{"key":"BFgene201261_CR17","doi-asserted-by":"publisher","first-page":"L738","DOI":"10.1152\/ajplung.00375.2002","volume":"284","author":"G Wang","year":"2003","unstructured":"Wang G, Guo X, Floros J . Human SP-A 3\u2032-UTR variants mediate differential gene expression in basal levels and in response to dexamethasone. Am J Physiol Lung Cell Mol Physiol 2003; 284: L738\u2013L748.","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"BFgene201261_CR18","doi-asserted-by":"publisher","first-page":"1473","DOI":"10.1086\/315866","volume":"182","author":"J Floros","year":"2000","unstructured":"Floros J, Lin HM, Garc\u00eda A, Salazar MA, Guo X, DiAngelo S et al. Surfactant protein genetic marker alleles identify a subgroup of tuberculosis in a Mexican population. J Infect Dis 2000; 182: 1473\u20131478.","journal-title":"J Infect Dis"},{"key":"BFgene201261_CR19","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1007\/s00439-005-0092-y","volume":"118","author":"S Malik","year":"2006","unstructured":"Malik S, Greenwood CM, Eguale T, Kifle A, Beyene J, Habte A et al. Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia. Hum Genet 2006; 118: 752\u2013759.","journal-title":"Hum Genet"},{"key":"BFgene201261_CR20","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1038\/ng1469","volume":"36","author":"M Hiller","year":"2004","unstructured":"Hiller M, Huse K, Szafranski K, Jahn N, Hampe J, Schreiber S et al. Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. Nat Genet 2004; 36: 1255\u20131257.","journal-title":"Nat Genet"},{"key":"BFgene201261_CR21","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1086\/500151","volume":"78","author":"M Hiller","year":"2006","unstructured":"Hiller M, Huse K, Szafranski K, Jahn N, Hampe J, Schreiber S et al. Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. Am J Hum Genet 2006; 78: 291\u2013302.","journal-title":"Am J Hum Genet"},{"key":"BFgene201261_CR22","doi-asserted-by":"publisher","first-page":"L795","DOI":"10.1152\/ajplung.00439.2010","volume":"301","author":"P Silveyra","year":"2011","unstructured":"Silveyra P, Raval M, Simmons B, DiAngelo S, Wang G, Floros J . The untranslated exon B of human surfactant protein A2 mRNAs is an enhancer for transcription and translation. Am J Physiol Lung Cell Mol Physiol 2011; 301: L795\u2013L803.","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"BFgene201261_CR23","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1111\/j.1530-0277.2010.01346.x","volume":"35","author":"J Liu","year":"2011","unstructured":"Liu J, Zhou Z, Hodgkinson CA, Yuan Q, Shen PH, Mulligan CJ et al. Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations. Alcohol Clin Exp Res 2011; 35: 304\u2013316.","journal-title":"Alcohol Clin Exp Res"},{"key":"BFgene201261_CR24","doi-asserted-by":"publisher","first-page":"1426","DOI":"10.1086\/508775","volume":"43","author":"DL Jack","year":"2006","unstructured":"Jack DL, Cole J, Naylor SC, Borrow R, Kaczmarski EB, Klein NJ et al. Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease. Clin Infect Dis 2006; 43: 1426\u20131433.","journal-title":"Clin Infect Dis"},{"key":"BFgene201261_CR25","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/1471-2350-8-15","volume":"8","author":"MM Pettigrew","year":"2007","unstructured":"Pettigrew MM, Gent JF, Zhu Y, Triche EW, Belanger KD, Holford TR et al. Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes. BMC Med Genet 2007; 8: 15.","journal-title":"BMC Med Genet"},{"key":"BFgene201261_CR26","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1378\/chest.128.3.1611","volume":"128","author":"S Saxena","year":"2005","unstructured":"Saxena S, Kumar R, Madan T, Gupta V, Muralidhar K, Sarma PU . Association of polymorphisms in pulmonary surfactant protein A1 and A2 genes with high-altitude pulmonary edema. Chest 2005; 128: 1611\u20131619.","journal-title":"Chest"},{"key":"BFgene201261_CR27","doi-asserted-by":"crossref","first-page":"2769","DOI":"10.1128\/IAI.66.6.2769-2777.1998","volume":"66","author":"BK Kang","year":"1998","unstructured":"Kang BK, Schlesinger LS . Characterization of mannose receptor-dependent phagocytosis mediated by Mycobacterium tuberculosis lipoarabinomannan. Infect Immun 1998; 66: 2769\u20132777.","journal-title":"Infect Immun"},{"key":"BFgene201261_CR28","doi-asserted-by":"publisher","first-page":"32618","DOI":"10.1074\/jbc.M504942200","volume":"280","author":"Y Zhang","year":"2005","unstructured":"Zhang Y, Wang D, Johnson AD, Papp AC, Sadee W . Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. J Biol Chem 2005; 280: 32618\u201332624.","journal-title":"J Biol Chem"},{"key":"BFgene201261_CR29","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1097\/01.fpc.0000178311.02878.83","volume":"15","author":"D Wang","year":"2005","unstructured":"Wang D, Johnson AD, Papp AC, Kroetz DL, Sadee W . Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435C>T affects mRNA stability. Pharmacogenet Genomics 2005; 15: 693\u2013704.","journal-title":"Pharmacogenet Genomics"}],"container-title":["Genes & Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/gene201261.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene201261","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene201261.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T17:25:49Z","timestamp":1647969949000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/gene201261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,17]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["BFgene201261"],"URL":"https:\/\/doi.org\/10.1038\/gene.2012.61","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,17]]},"assertion":[{"value":"26 September 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 November 2012","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 December 2012","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2013","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}