Genome-wide association study to identify variants associated with acute severe vaso-occlusive pain in sickle cell anemia

Blood

Volumn 130, Issue 5, 2017, Pages 686-688

  Chaturvedi, Shruti ^a   Bhatnagar, Pallav ^b   Bean, Christopher J ^c   Steinberg, Martin H ^d   Milton, Jaqueline N ^e   Casella, James F ^b   Barron Casella, Emily ^b   Arking, Dan E ^b   DeBaun, Michael R ^f  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^f VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HEMOGLOBIN F; INTERLEUKIN 2; INTERLEUKIN 21;

ACUTE SEVERE VASO OCCLUSIVE PAIN; ADOLESCENT; ADULT; AFRICAN; CHILD; FEMALE; FOLLOW UP; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUE; HUMAN; KIAA1109 GENE; LETTER; MAJOR CLINICAL STUDY; MALE; PAIN; PAIN ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; RETICULOCYTE HEMOGLOBIN CONTENT; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; TENR GENE; BLACK PERSON; BLOOD; CHROMOSOME 4; COMPLICATION; EPISTASIS; GENETIC VARIATION; GENETICS; MULTICENTER STUDY (TOPIC); PERIPHERAL OCCLUSIVE ARTERY DISEASE; PRESCHOOL CHILD; PROSPECTIVE STUDY;

ACUTE PAIN; ADOLESCENT; AFRICAN CONTINENTAL ANCESTRY GROUP; ANEMIA, SICKLE CELL; ARTERIAL OCCLUSIVE DISEASES; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; EPISTASIS, GENETIC; FEMALE; FETAL HEMOGLOBIN; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; MALE; MULTICENTER STUDIES AS TOPIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES;

EID: 85026762603     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2017-02-769661     Document Type: Letter

References (25)

1. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331-4336.
2. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet. 2010; 376(9757):2018-2031.
3. Vichinsky EP, Styles LA, Colangelo LH, Wright EC, Castro O, Nickerson B; Cooperative Study of Sickle Cell Disease. Acute chest syndrome in sickle cell disease: clinical presentation and course. Blood. 1997;89(5):1787-1792.
4. Galarneau G, Coady S, Garrett ME, et al. Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients. Blood. 2013;122(3):434-442.
5. Exner M, Minar E, Wagner O, Schillinger M. The role of heme oxygenase-1 promoter polymorphisms in human disease. Free Radic Biol Med. 2004;37(8):1097-1104.
6. Bean CJ, Boulet SL, Ellingsen D, et al. Heme oxygenase-1 gene promoter polymorphism is associated with reduced incidence of acute chest syndrome among children with sickle cell disease. Blood. 2012;120(18):3822-3828.
7. Gaston M, Rosse WF. The cooperative study of sickle cell disease: review of study design and objectives. Am J Pediatr Hematol Oncol. 1982;4(2):197-201.
8. DeBaun MR, Gordon M, McKinstry RC, et al. Controlled trial of transfusions for silent cerebral infarcts in sickle cell anemia. N Engl J Med. 2014;371(8):699-710.
9. Platt OS, Thorington BD, Brambilla DJ, et al. Pain in sickle cell disease. Rates and risk factors. N Engl J Med. 1991;325(1):11-16.
10. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol. 2010;34(8):816-834.
11. van Heel DA, Franke L, Hunt KA, et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet. 2007;39(7):827-829.
12. Adamovic S, Amundsen SS, Lie BA, et al. Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families. Genes Immun. 2008;9(4):364-367.
13. Glas J, Stallhofer J, Ripke S, et al. Novel genetic risk markers for ulcerative colitis in the IL2/IL21 region are in epistasis with IL23R and suggest a common genetic background for ulcerative colitis and celiac disease. Am J Gastroenterol. 2009;104(7):1737-1744.
14. Festen EA, Goyette P, Scott R, et al. Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis. Gut. 2009;58(6):799-804.
15. Hollis-Moffatt JE, Chen-Xu M, Topless R, et al. Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance. Arthritis Res Ther. 2010;12(3):R116.
16. Teixeira VH, Pierlot C, Migliorini P, et al; European Consortium on Rheumatoid Arthritis Families. Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study. Arthritis Res Ther. 2009;11(2):R45.
17. Kaul DK, Hebbel RP. Hypoxia/reoxygenation causes inflammatory response in transgenic sickle mice but not in normal mice. J Clin Invest. 2000;106(3):411-420.
18. Cain DM, Vang D, Simone DA, Hebbel RP, Gupta K. Mouse models for studying pain in sickle disease: effects of strain, age, and acuteness. Br J Haematol. 2012;156(4):535-544.
19. Duits AJ, Schnog JB, Lard LR, Saleh AW, Rojer RA. Elevated IL-8 levels during sickle cell crisis. Eur J Haematol. 1998;61(5):302-305.
20. Graido-Gonzalez E, Doherty JC, Bergreen EW, Organ G, Telfer M, McMillen MA. Plasma endothelin-1, cytokine, and prostaglandin E2 levels in sickle cell disease and acute vaso-occlusive sickle crisis. Blood. 1998;92(7):2551-2555.
21. Hoyer KK, Dooms H, Barron L, Abbas AK. Interleukin-2 in the development and control of inflammatory disease. Immunol Rev. 2008;226:19-28.
22. Young DA, Hegen M, Ma HL, et al. Blockade of the interleukin-21/interleukin-21 receptor pathway ameliorates disease in animal models of rheumatoid arthritis. Arthritis Rheum. 2007;56(4):1152-1163.
23. Di Fusco D, Izzo R, Figliuzzi MM, Pallone F, Monteleone G. IL-21 as a therapeutic target in inflammatory disorders. Expert Opin Ther Targets. 2014; 18(11):1329-1338.
24. Sorge RE, Mapplebeck JC, Rosen S, et al. Different immune cells mediate mechanical pain hypersensitivity in male and female mice. Nat Neurosci. 2015; 18(8):1081-1083.
25. Kikuno R, Nagase T, Ishikawa K, et al. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1999;6(3):197-205.