rs4263839 A>C

NC_000009.12:g.114804160A>C
NC_000009.11:g.117566440A>C
NG_011488.2:g.6969T>G
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Клиническая значимость

Эффект не изучен

Краткое описание

Мутация rs4263839 A>C расположена в гене TNFSF15 и представляет собой однонуклеотидную замену "A" на "C" в позиции 114,804,160 в хромосоме 9.

В статистических исследованиях была обнаружена корреляция (или антикорреляция) данной мутации с признаками: "Болезнь Крона" и "Болезнь Крона". При этом достоверно не известно, является ли мутация причиной этих проявлений или же не имеет с ними причинно-следственной связи.

Частота встречаемости в мире менее 1 на 100 000 человек (по данным проекта KOREAN). Данных о частоте встречаемости в России не найдено. В англоязычной литературе существует не менее 34 публикаций об этой мутации.

Связанные болезни и признаки
Болезнь Крона  (EFO:0000384)
GWAS
Международные публикации в PubMed

2. A meta-analysis of immunogenetic Case-Control Association Studies in irritable bowel syndrome.

Czogalla B, Schmitteckert S, Houghton LA, Sayuk GS, Camilleri M, Olivo-Diaz A, Spiller R, Wouters MM, Boeckxstaens G, Bermejo JL, Niesler B
Neurogastroenterol Motil 2015 May

4. An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

Juyal G, Prasad P, Senapati S, Midha V, Sood A, Amre D, Juyal RC, BK T
PLoS One 2011 Jan 31

6. Association of TNFSF15 polymorphism with irritable bowel syndrome.

Zucchelli M, Camilleri M, Andreasson AN, Bresso F, Dlugosz A, Halfvarson J, Törkvist L, Schmidt PT, Karling P, Ohlsson B, Duerr RH, Simren M, Lindberg G, Agreus L, Carlson P, Zinsmeister AR, D'Amato M
Gut 2011 Dec

7. Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.

Danoy P, Pryce K, Hadler J, Bradbury LA, Farrar C, Pointon J, Australo-Anglo-American Spondyloarthritis Consortium., Ward M, Weisman M, Reveille JD, Wordsworth BP, Stone MA, Spondyloarthritis Research Consortium of Canada., Maksymowych WP, Rahman P, Gladman D, Inman RD, Brown MA
PLoS Genet 2010 Dec 2

9. Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Di Narzo AF, Peters LA, Argmann C, Stojmirovic A, Perrigoue J, Li K, Telesco S, Kidd B, Walker J, Dudley J, Cho J, Schadt EE, Kasarskis A, Curran M, Dobrin R, Hao K
Clin Transl Gastroenterol 2016 Jun 23

11. Combining Multiple Hypothesis Testing with Machine Learning Increases the Statistical Power of Genome-wide Association Studies.

Mieth B, Kloft M, Rodríguez JA, Sonnenburg S, Vobruba R, Morcillo-Suárez C, Farré X, Marigorta UM, Fehr E, Dickhaus T, Blanchard G, Schunk D, Navarro A, Müller KR
Sci Rep 2016 Nov 28

12. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.

Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, Guthery SL, Denson L, Piccoli D, Silverberg MS, Stanley CA, Monos D, Wilson DC, Griffiths A, Grant SF, Satsangi J, Polychronakos C, Hakonarson H
Hum Mol Genet 2010 May 15

14. Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis.

Waterman M, Xu W, Stempak JM, Milgrom R, Bernstein CN, Griffiths AM, Greenberg GR, Steinhart AH, Silverberg MS
Inflamm Bowel Dis 2011 Sep

15. Diverticulitis and Crohn's disease have distinct but overlapping tumor necrosis superfamily 15 haplotypes.

Connelly TM, Choi CS, Berg AS, Harris L 3rd, Coble J, Koltun WA
J Surg Res 2017 Jun 15

16. Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

Peter I, Mitchell AA, Ozelius L, Erazo M, Hu J, Doheny D, Abreu MT, Present DH, Ullman T, Benkov K, Korelitz BI, Mayer L, Desnick RJ, New York Crohn's Disease Working Group
BMC Med Genet 2011 May 6

17. Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn's disease and leprosy.

Sun Y, Irwanto A, Toyo-Oka L, Hong M, Liu H, Andiappan AK, Choi H, Hitomi Y, Yu G, Yu Y, Bao F, Wang C, Fu X, Yue Z, Wang H, Zhang H, Kawashima M, Kojima K, Nagasaki M, Nakamura M, Yang SK, Ye BD, Denise Y, Rotzschke O, Song K, Tokunaga K, Zhang F, Liu J
Sci Rep 2016 Aug 10

18. Genetic polymorphism in pathogenesis of irritable bowel syndrome.

Cheung CK, Wu JC
World J Gastroenterol 2014 Dec 21

20. Genetic susceptibility to inflammation and colonic transit in lower functional gastrointestinal disorders: preliminary analysis.

Camilleri M, Carlson P, McKinzie S, Zucchelli M, D'Amato M, Busciglio I, Burton D, Zinsmeister AR
Neurogastroenterol Motil 2011 Oct

21. Genetic variation in GPBAR1 predisposes to quantitative changes in colonic transit and bile acid excretion.

Camilleri M, Shin A, Busciglio I, Carlson P, Acosta A, Bharucha AE, Burton D, Lamsam J, Lueke A, Donato LJ, Zinsmeister AR
Am J Physiol Gastrointest Liver Physiol 2014 Sep 1

23. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ, NIDDK IBD Genetics Consortium, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E, Belgian-French IBD Consortium, Wellcome Trust Case Control Consortium, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwilliam R, Tremelling M, Deloukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ
Nat Genet 2008 Aug

24. Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

McGovern DP, Gardet A, Törkvist L, Goyette P, Essers J, Taylor KD, Neale BM, Ong RT, Lagacé C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, D'Amato M, Halfvarson J, Hibberd ML, Lördal M, Padyukov L, Andriulli A, Colombo E, Latiano A, Palmieri O, Bernard EJ, Deslandres C, Hommes DW, de Jong DJ, Stokkers PC, Weersma RK, NIDDK IBD Genetics Consortium, Sharma Y, Silverberg MS, Cho JH, Wu J, Roeder K, Brant SR, Schumm LP, Duerr RH, Dubinsky MC, Glazer NL, Haritunians T, Ippoliti A, Melmed GY, Siscovick DS, Vasiliauskas EA, Targan SR, Annese V, Wijmenga C, Pettersson S, Rotter JI, Xavier RJ, Daly MJ, Rioux JD, Seielstad M
Nat Genet 2010 Apr

25. Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms.

Jung C, Colombel JF, Lemann M, Beaugerie L, Allez M, Cosnes J, Vernier-Massouille G, Gornet JM, Gendre JP, Cezard JP, Ruemmele FM, Turck D, Merlin F, Zouali H, Libersa C, Dieudé P, Soufir N, Thomas G, Hugot JP
PLoS One 2012

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