{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:00:39Z","timestamp":1792202439742,"version":"4.4.0"},"reference-count":43,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2012\/22516-6"],"award-info":[{"award-number":["2012\/22516-6"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2018\/08898-0"],"award-info":[{"award-number":["2018\/08898-0"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["301213\/2015-1"],"award-info":[{"award-number":["301213\/2015-1"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["151189\/2018-8"],"award-info":[{"award-number":["151189\/2018-8"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1016\/j.gene.2019.05.013","type":"journal-article","created":{"date-parts":[[2019,5,8]],"date-time":"2019-05-08T08:36:32Z","timestamp":1557304592000},"page":"53-57","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Association study of SLC6A2 gene Thr99Ile variant (rs1805065) with athletic status in the Brazilian population"],"prefix":"10.1016","volume":"707","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9165-973X","authenticated-orcid":false,"given":"Jo\u00e3o Paulo L.F.","family":"Guilherme","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6940-9849","authenticated-orcid":false,"given":"Marcelo","family":"Bigliassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio H.","family":"Lancha Junior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"7571","key":"10.1016\/j.gene.2019.05.013_bb0005","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"issue":"11","key":"10.1016\/j.gene.2019.05.013_bb0010","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1038\/nrg2867","article-title":"Statistical analysis strategies for association studies involving rare variants","volume":"11","author":"Bansal","year":"2010","journal-title":"Nat Rev Genet"},{"issue":"9","key":"10.1016\/j.gene.2019.05.013_bb0015","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1016\/S0006-3223(99)00192-4","article-title":"Attention-deficit\/hyperactivity disorder (ADHD) as a noradrenergic disorder","volume":"46","author":"Biederman","year":"1999","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.gene.2019.05.013_bb0020","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1007\/3-540-29784-7_20","article-title":"The norepinephrine transporter in physiology and disease","volume":"175","author":"Bonisch","year":"2006","journal-title":"Handb. Exp. Pharmacol."},{"issue":"23","key":"10.1016\/j.gene.2019.05.013_bb0025","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1136\/bjsports-2015-095294","article-title":"Exercise genomics\u2013a paradigm shift is needed: a commentary","volume":"49","author":"Bouchard","year":"2015","journal-title":"Br. J. Sports Med."},{"issue":"2","key":"10.1016\/j.gene.2019.05.013_bb0030","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/nprot.2010.182","article-title":"Basic statistical analysis in genetic case-control studies","volume":"6","author":"Clarke","year":"2011","journal-title":"Nat. Protoc."},{"issue":"4","key":"10.1016\/j.gene.2019.05.013_bb0035","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1093\/ageing\/afv013","article-title":"Association between hand-grip strength and depressive symptoms: locomotive syndrome and health outcomes in Aizu Cohort Study (LOHAS)","volume":"44","author":"Fukumori","year":"2015","journal-title":"Age Ageing"},{"issue":"5","key":"10.1016\/j.gene.2019.05.013_bb0040","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1177\/0145445510383525","article-title":"How does sport psychology actually improve athletic performance? A framework to facilitate athletes' and coaches' understanding","volume":"34","author":"Gee","year":"2010","journal-title":"Behav. Modif."},{"issue":"1","key":"10.1016\/j.gene.2019.05.013_bb0045","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1590\/S1807-55092014000100177","article-title":"Genetics and sport performance: current challenges and directions to the future","volume":"28","author":"Guilherme","year":"2014","journal-title":"Rev. Bras. Educ. F\u00eds. Esporte"},{"issue":"5","key":"10.1016\/j.gene.2019.05.013_bb0050","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1111\/ahg.12248","article-title":"Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes","volume":"82","author":"Guilherme","year":"2018","journal-title":"Ann. Hum. Genet."},{"issue":"20","key":"10.1016\/j.gene.2019.05.013_bb0055","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1080\/02640414.2018.1455260","article-title":"The AGTR2 rs11091046 (A>C) polymorphism and power athletic status in top-level Brazilian athletes","volume":"36","author":"Guilherme","year":"2018","journal-title":"J. Sports Sci."},{"issue":"3","key":"10.1016\/j.gene.2019.05.013_bb0060","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1124\/mol.110.069039","article-title":"Site-directed mutations near transmembrane domain 1 alter conformation and function of norepinephrine and dopamine transporters","volume":"79","author":"Guptaroy","year":"2011","journal-title":"Mol. Pharmacol."},{"key":"10.1016\/j.gene.2019.05.013_bb0065","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1146\/annurev.pharmtox.47.120505.105242","article-title":"The functional impact of SLC6 transporter genetic variation","volume":"47","author":"Hahn","year":"2007","journal-title":"Annu. Rev. Pharmacol. Toxicol."},{"issue":"2","key":"10.1016\/j.gene.2019.05.013_bb0070","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1124\/mol.105.011270","article-title":"Single nucleotide polymorphisms in the human norepinephrine transporter gene affect expression, trafficking, antidepressant interaction, and protein kinase C regulation","volume":"68","author":"Hahn","year":"2005","journal-title":"Mol. Pharmacol."},{"issue":"1","key":"10.1016\/j.gene.2019.05.013_bb0075","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/s41398-018-0278-4","article-title":"A functional genetic variation of SLC6A2 repressor hsa-miR-579-3p upregulates sympathetic noradrenergic processes of fear and anxiety","volume":"8","author":"Hommers","year":"2018","journal-title":"Transl. Psychiatry"},{"issue":"10","key":"10.1016\/j.gene.2019.05.013_bb0080","first-page":"1191","article-title":"Norepinephrine transporter-deficient mice exhibit excessive tachycardia and elevated blood pressure with wakefulness and activity","volume":"110","author":"Keller","year":"2004","journal-title":"Circ. Cardiovasc. Genet."},{"issue":"21","key":"10.1016\/j.gene.2019.05.013_bb0085","doi-asserted-by":"crossref","first-page":"8451","DOI":"10.1523\/JNEUROSCI.17-21-08451.1997","article-title":"Reduced levels of norepinephrine transporters in the locus coeruleus in major depression","volume":"17","author":"Klimek","year":"1997","journal-title":"J. Neurosci."},{"issue":"4","key":"10.1016\/j.gene.2019.05.013_bb0090","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1097\/FPC.0b013e328344f63e","article-title":"Genetic variation in the presynaptic norepinephrine transporter is associated with blood pressure responses to exercise in healthy humans","volume":"21","author":"Kohli","year":"2011","journal-title":"Pharmacogenet. Genomics"},{"issue":"3","key":"10.1016\/j.gene.2019.05.013_bb0095","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1124\/pr.108.000869","article-title":"SLC6 neurotransmitter transporters: structure, function, and regulation","volume":"63","author":"Kristensen","year":"2011","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.gene.2019.05.013_bb0100","doi-asserted-by":"crossref","first-page":"2062","DOI":"10.3389\/fpsyg.2018.02062","article-title":"Learning from elite athletes' experience of depression","volume":"9","author":"Lebrun","year":"2018","journal-title":"Front. Psychol."},{"issue":"11","key":"10.1016\/j.gene.2019.05.013_bb0105","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1093\/ijnp\/pyx055","article-title":"Factors influencing the cardiovascular response to subanesthetic ketamine: a randomized, placebo-controlled trial","volume":"20","author":"Liebe","year":"2017","journal-title":"Int. J. Neuropsychopharmacol."},{"key":"10.1016\/j.gene.2019.05.013_bb0110","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.nicl.2018.09.001","article-title":"Ketamine influences the locus coeruleus norepinephrine network, with a dependency on norepinephrine transporter genotype - a placebo controlled fMRI study","volume":"20","author":"Liebe","year":"2018","journal-title":"Neuroimage Clin."},{"issue":"1","key":"10.1016\/j.gene.2019.05.013_bb0115","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1038\/mp.2016.40","article-title":"A polymorphism in the norepinephrine transporter gene is associated with affective and cardiovascular disease through a microRNA mechanism","volume":"22","author":"Marques","year":"2017","journal-title":"Mol. Psychiatry"},{"issue":"3","key":"10.1016\/j.gene.2019.05.013_bb0120","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1152\/physiolgenomics.00109.2015","article-title":"Sports genetics moving forward: lessons learned from medical research","volume":"48","author":"Mattsson","year":"2016","journal-title":"Physiol. Genomics"},{"issue":"10","key":"10.1016\/j.gene.2019.05.013_bb0125","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1080\/00913847.1985.11708905","article-title":"A psychological study of health, injury, and performance in athletes on the US Alpine Ski Team","volume":"13","author":"May","year":"1985","journal-title":"Phys. Sportsmed."},{"issue":"Suppl","key":"10.1016\/j.gene.2019.05.013_bb0130","doi-asserted-by":"crossref","first-page":"S37","DOI":"10.1123\/ijsnem.17.s1.s37","article-title":"Amino acids and the brain: do they play a role in \"central fatigue\"?","volume":"17","author":"Meeusen","year":"2007","journal-title":"Int. J. Sport Nutr. Exerc. Metab."},{"issue":"9","key":"10.1016\/j.gene.2019.05.013_bb0135","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1291\/hypres.26.685","article-title":"Epidemiological evidence of an association between SLC6A2 gene polymorphism and hypertension","volume":"26","author":"Ono","year":"2003","journal-title":"Hypertens. Res."},{"issue":"1","key":"10.1016\/j.gene.2019.05.013_bb0140","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0165-1781(99)00050-5","article-title":"Norepinephrine transporter gene polymorphism is not associated with susceptibility to major depression","volume":"87","author":"Owen","year":"1999","journal-title":"Psychiatry Res."},{"key":"10.1016\/j.gene.2019.05.013_bb0145","doi-asserted-by":"crossref","DOI":"10.1080\/02640414.2019.1583156","article-title":"Association of serotoninergic pathway gene variants with elite athletic status in the Polish population","author":"Peplonska","year":"2019","journal-title":"J. Sports Sci."},{"issue":"6","key":"10.1016\/j.gene.2019.05.013_bb0150","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0156601","article-title":"The relationship between personality traits, the 5HTT polymorphisms, and the occurrence of anxiety and depressive symptoms in elite athletes","volume":"11","author":"Petito","year":"2016","journal-title":"PLoS One"},{"issue":"2\u20133","key":"10.1016\/j.gene.2019.05.013_bb0155","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.mam.2012.07.002","article-title":"SLC6 transporters: structure, function, regulation, disease association and therapeutics","volume":"34","author":"Pramod","year":"2013","journal-title":"Mol. Asp. Med."},{"issue":"12","key":"10.1016\/j.gene.2019.05.013_bb0160","doi-asserted-by":"crossref","first-page":"875","DOI":"10.2165\/00007256-200131120-00004","article-title":"Psychological factors in sport performance: the mental health model revisited","volume":"31","author":"Raglin","year":"2001","journal-title":"Sports Med."},{"issue":"9","key":"10.1016\/j.gene.2019.05.013_bb0165","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1016\/S0006-3223(99)00127-4","article-title":"Role of norepinephrine in the pathophysiology and treatment of mood disorders","volume":"46","author":"Ressler","year":"1999","journal-title":"Biol. Psychiatry"},{"issue":"4","key":"10.1016\/j.gene.2019.05.013_bb0170","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/0022-3956(96)00014-3","article-title":"Fine motor retardation and depression","volume":"30","author":"Sabbe","year":"1996","journal-title":"J. Psychiatr. Res."},{"issue":"3","key":"10.1016\/j.gene.2019.05.013_bb0175","doi-asserted-by":"crossref","first-page":"235","DOI":"10.2174\/157015908785777229","article-title":"Functional neuroanatomy of the noradrenergic locus coeruleus: its roles in the regulation of arousal and autonomic function part I: principles of functional organisation","volume":"6","author":"Samuels","year":"2008","journal-title":"Curr. Neuropharmacol."},{"issue":"4","key":"10.1016\/j.gene.2019.05.013_bb0180","first-page":"554","article-title":"Association of anxiety-related polymorphisms with sports performance in Chilean long distance triathletes: a pilot study","volume":"15","author":"Sanhueza","year":"2016","journal-title":"J. Sports Sci. Med."},{"issue":"1\u20132","key":"10.1016\/j.gene.2019.05.013_bb0185","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.jad.2008.08.010","article-title":"Psychomotor functioning in chronic fatigue syndrome and major depressive disorder: a comparative study","volume":"115","author":"Schrijvers","year":"2009","journal-title":"J. Affect. Disord."},{"issue":"8","key":"10.1016\/j.gene.2019.05.013_bb0190","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1056\/NEJM200002243420803","article-title":"Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency","volume":"342","author":"Shannon","year":"2000","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.gene.2019.05.013_bb0195","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1002\/(SICI)1096-8628(19961122)67:6<523::AID-AJMG3>3.0.CO;2-I","article-title":"Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders","volume":"67","author":"Stober","year":"1996","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.gene.2019.05.013_bb0200","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/(SICI)1096-8628(19990416)88:2<158::AID-AJMG12>3.0.CO;2-W","article-title":"Tourette syndrome and the norepinephrine transporter gene: results of a systematic mutation screening","volume":"88","author":"Stober","year":"1999","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.gene.2019.05.013_bb0205","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1037\/0022-3514.48.1.107","article-title":"Metamotivational dominance: a multimethod validation of reversal theory constructs","volume":"48","author":"Svebak","year":"1985","journal-title":"J. Pers. Soc. Psychol."},{"key":"10.1016\/j.gene.2019.05.013_bb0210","article-title":"Depression is associated with sarcopenia due to low muscle strength: results from the ELSA-Brasil study","author":"Szlejf","year":"2018","journal-title":"J. Am. Med. Dir. Assoc."},{"issue":"5","key":"10.1016\/j.gene.2019.05.013_bb0215","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/j.1751-7176.2012.00618.x","article-title":"Effect of the rs168924 single-nucleotide polymorphism in the SLC6A2 catecholamine transporter gene on blood pressure in Caucasians","volume":"14","author":"Zolk","year":"2012","journal-title":"J. Clin. Hypertens. (Greenwich)"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111919304755?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111919304755?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:06:50Z","timestamp":1778544410000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111919304755"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":43,"alternative-id":["S0378111919304755"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2019.05.013","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Association study of SLC6A2 gene Thr99Ile variant (rs1805065) with athletic status in the Brazilian population","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2019.05.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}