Advertisement

Clinical Aspects of Urea Transporters

  • Jianhua Ran
  • Hongkai Wang
  • Tinghai Hu
Chapter
Part of the Subcellular Biochemistry book series (SCBI, volume 73)

Abstract

Jk antigens, which were identified as urea transporter B (UT-B) in the plasma membrane of erythrocytes, and which determine the Kidd blood type in humans, are involved in transfusion medicine, and even in organ transplantation. The Jk(a-b-) blood type is a consequence of a silent Slc14A1 gene caused by various mutations related to lineage. In addition, the specific mutations related to hypertension and metabolic syndrome cannot be ignored. Genome-wide association studies established Slc14A1 as a related gene of bladder cancer and some genotypes are associated with higher morbidity. This chapter aims to introduce the clinical significance of urea transporters.

Keywords

Urea Urea transporter Jk antigens Mutations 

Notes

Acknowledgments

This work was supported by NSFC grants 30500171, Scientific and Technological Research Program of Chongqing Municipal Education Commission KJ120330 and Scientific and Technological Research Program of Chongqing Yuzhongqu Scientific and Technological Commission 20120202 to JHR.

References

  1. 1.
    Allen FH, Diamond LK, Niedziela B (1951) A new blood-group antigen. nature 167:482CrossRefGoogle Scholar
  2. 2.
    Baek EJ, Park SC, Kwon YH, Kim CR (2013) Haemolytic disease of newborn due to anti-Jka and the duration of antibody persistence. J Paediatr Child Health 49:E101–E102PubMedCrossRefGoogle Scholar
  3. 3.
    Barbosa J, Rich S, Dunsworth T, Swanson J (1982) Linkage disequilibrium between insulin-dependent diabetes and the Kidd blood group Jkb allele. J Clin Endocrinol Metab 55:193–195PubMedCrossRefGoogle Scholar
  4. 4.
    Billingsley K, Posadas J, Gaur L, Moulds J (2011) Identification of a new JK silencing mutation in the African American population. Transfusion 51:150Google Scholar
  5. 5.
    Braver DJ, Modan M, Chetrit A, Lusky A, Braf Z (1987) Drinking, micturition habits, and urine concentration as potential risk factors in urinary bladder cancer. J Natl Cancer Inst 78:437–440PubMedGoogle Scholar
  6. 6.
    Castilho L, Rios M, Bianco C, Pellegrino J Jr, Alberto FL, Saad ST, Costa FF (2002) DNA-based typing of blood groups for the management of multiply-transfused sickle cell disease patients. Transfusion 42:232–238PubMedCrossRefGoogle Scholar
  7. 7.
    Dong Z, Ran J, Zhou H, Chen J, Lei T, Wang W, Sun Y, Lin G, Bankir L, Yang B (2013) Urea transporter UT-B deletion induces DNA damage and apoptosis in mouse bladder urothelium. PLoS ONE 8:e76952PubMedCentralPubMedCrossRefGoogle Scholar
  8. 8.
    Duchesne R, Klein JD, Velotta JB, Doran JJ, Rouillard P, Roberts BR, McDonough AA, Sands JM (2001) UT-A urea transporter protein in heart: increased abundance during uremia, hypertension, and heart failure. Circ Res 89:139–145PubMedCrossRefGoogle Scholar
  9. 9.
    Ekman GC, Hessner MJ (2000) Screening of six racial groups for the intron 5 G– > A 3’ splice acceptor mutation responsible for the polynesian kidd (a-b-) phenotype: the null mutation is not always associated with the JKB allele. Transfusion 40:888–889PubMedCrossRefGoogle Scholar
  10. 10.
    Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM (2010) Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 127:2893–2917PubMedCrossRefGoogle Scholar
  11. 11.
    Ferrando M, Martinez-Canabate S, Luna I, de la Rubia J, Carpio N, Alfredo P, Arriaga F (2008) Severe hemolytic disease of the fetus due to anti-Jkb. Transfusion 48:402–404PubMedCrossRefGoogle Scholar
  12. 12.
    Frohlich O, Macey R, Edwards-Moulds J, Gargus J, Gunn R (1991) Urea transport deficiency in Jk (a-b-) erythrocytes. Am J Physiol 260:C778–C783PubMedGoogle Scholar
  13. 13.
    Frullanti E, Colombo F, Falvella FS, Galvan A, Noci S, De Cecco L, Incarbone M, Alloisio M, Santambrogio L, Nosotti M, Tosi D, Pastorino U, Dragani TA (2012) Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue. Int J Cancer 131:E643–E648PubMedCrossRefGoogle Scholar
  14. 14.
    Gallucci E, Micelli S, Lippe C (1971) Non-electrolyte permeability across thin lipid membranes. Arch Int Physiol Biochim 79:881–887PubMedCrossRefGoogle Scholar
  15. 15.
    Garcia-Closas M, Ye Y, Rothman N, Figueroa JD, Malats N, Dinney CP, Chatterjee N, Prokunina-Olsson L, Wang Z, Lin J, Real FX, Jacobs KB, Baris D, Thun M, De Vivo I, Albanes D, Purdue MP, Kogevinas M, Kamat AM, Lerner SP, Grossman HB, Gu J, Pu X, Hutchinson A, Fu YP, Burdett L, Yeager M, Tang W, Tardon A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Johnson A, Schwenn M, Karagas MR, Schned A, Andriole G Jr, Grubb R 3rd, Black A, Jacobs EJ, Diver WR, Gapstur SM, Weinstein SJ, Virtamo J, Hunter DJ, Caporaso N, Landi MT, Fraumeni JF Jr, Silverman DT, Chanock SJ, Wu X (2011) A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3. Hum Mo Genet 20:4282–4289CrossRefGoogle Scholar
  16. 16.
    Geitvik G, Høyheim B, Gedde-Dahl T, Grzeschik K, Lothe R, Tomter H, Olaisen B (1987) The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP. Hum Genet 77:205–209PubMedCrossRefGoogle Scholar
  17. 17.
    Guo Z, Wang C, Yan K, Xie J, Shen W, Li Q, Zhang J, Ye L, Zhu Z (2013) The mutation spectrum of the JK-null phenotype in the Chinese population. Transfusion 53:545–553PubMedCrossRefGoogle Scholar
  18. 18.
    Hamilton MS, Singh V, Warady BA (2006) Plasma cell-rich acute cellular rejection of a transplanted kidney associated with antibody to the red cell Kidd antigen. Pediatr Transplant 10:974–977PubMedCrossRefGoogle Scholar
  19. 19.
    Hamilton MS, Singh V, Warady BA (2008) Additional case of acute cellular kidney rejection associated with the presence of antibodies to the red blood cell Kidd antigen. Pediatr Transplant 12:918–919PubMedCrossRefGoogle Scholar
  20. 20.
    Heaton D, McLoughlin K (1982) Jk (a− b−) red blood cells resist urea lysis. Transfusion 22:70–71PubMedCrossRefGoogle Scholar
  21. 21.
    Henry S, Woodfield G (1995) Frequencies of the Jk(a-b-) phenotype in Polynesian ethnic groups. Transfusion 35:277PubMedCrossRefGoogle Scholar
  22. 22.
    Hessner MJ, Pircon RA, Johnson ST, Luhm RA (1998) Prenatal genotyping of Jk(a) and Jk(b) of the human Kidd blood group system by allele-specific polymerase chain reaction. Prenat Diagn 18:1225–1231PubMedCrossRefGoogle Scholar
  23. 23.
    Hodge S, Anderson C, Neiswanger K, Rubin R, Sparkes R, Sparkes M, Crist M, Spence M, Terasaki P, Rimoin D (1983) Association studies between Type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between Type 1 diabetes and Kidd blood group. Diabetologia 25:343–347PubMedCrossRefGoogle Scholar
  24. 24.
    Hodge S, Neiswanger K, Anne Spence M, Sparkes M, Terasaki P, Anderson C, Leigh Field L, Sparkes R, Crist M, Rimoin D (1981) Close genetic linkage between diabetes mellitus and Kidd blood group. Lancet 318:893–895CrossRefGoogle Scholar
  25. 25.
    Hong X, Xing H, Yu Y, Wen Y, Zhang Y, Zhang S, Tang G, Xu X (2007) Genetic polymorphisms of the urea transporter gene are associated with antihypertensive response to nifedipine GITS. Methods Find Exp Clin Pharmacol 29:3–10PubMedCrossRefGoogle Scholar
  26. 26.
    Horn T, Castilho L, Moulds JM, Billingsley K, Vege S, Johnson N, Westhoff CM (2012) A novel JKA allele, nt561C> A, associated with silencing of Kidd expression. Transfusion 52:1092–1096PubMedCrossRefGoogle Scholar
  27. 27.
    Hussain SS, Ebbs AM, Curtin NJ, Keidan AJ (2007) Delayed haemolytic transfusion reaction due to anti-Jkb in a patient with non-Hodgkin’s lymphoma-transient nature of anti-Jkb and the importance of early serological diagnosis. Transfus Med 17:197–199PubMedCrossRefGoogle Scholar
  28. 28.
    Intharanut K, Grams R, Bejrachandra S, Sriwanitchrak P, Nathalang O (2013) Improved allele-specific PCR technique for Kidd blood group genotyping. J Clin Lab Anal 27:53–58PubMedCrossRefGoogle Scholar
  29. 29.
    Irshaid NM, Eicher NI, Hustinx H, Poole J, Olsson ML (2002) Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families. Br J Haematol 116:445–453PubMedCrossRefGoogle Scholar
  30. 30.
    Irshaid NM, Henry SM, Olsson ML (2000) Genomic characterization of the kidd blood group gene: different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns. Transfusion 40:69–74PubMedCrossRefGoogle Scholar
  31. 31.
    Irshaid NM, Thuresson B, Olsson ML (1998) Genomic typing of the Kidd blood group locus by a single-tube allele-specific primer PCR technique. Br J Haematol 102:1010–1014PubMedCrossRefGoogle Scholar
  32. 32.
    Jacobs BL, Lee CT, Montie JE (2010) Bladder cancer in 2010: how far have we come? CA Cancer J Clin 60:244–272PubMedCrossRefGoogle Scholar
  33. 33.
    Kiemeney LA, Sulem P, Besenbacher S, Vermeulen SH, Sigurdsson A, Thorleifsson G, Gudbjartsson DF, Stacey SN, Gudmundsson J, Zanon C, Kostic J, Masson G, Bjarnason H, Palsson ST, Skarphedinsson OB, Gudjonsson SA, Witjes JA, Grotenhuis AJ, Verhaegh GW, Bishop DT, Sak SC, Choudhury A, Elliott F, Barrett JH, Hurst CD, de Verdier PJ, Ryk C, Rudnai P, Gurzau E, Koppova K, Vineis P, Polidoro S, Guarrera S, Sacerdote C, Campagna M, Placidi D, Arici C, Zeegers MP, Kellen E, Gutierrez BS, Sanz-Velez JI, Sanchez-Zalabardo M, Valdivia G, Garcia-Prats MD, Hengstler JG, Blaszkewicz M, Dietrich H, Ophoff RA, van den Berg LH, Alexiusdottir K, Kristjansson K, Geirsson G, Nikulasson S, Petursdottir V, Kong A, Thorgeirsson T, Mungan NA, Lindblom A, van Es MA, Porru S, Buntinx F, Golka K, Mayordomo JI, Kumar R, Matullo G, Steineck G, Kiltie AE, Aben KK, Jonsson E, Thorsteinsdottir U, Knowles MA, Rafnar T, Stefansson K (2010) A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet 42:415–419PubMedCentralPubMedCrossRefGoogle Scholar
  34. 34.
    Kiemeney LA, Thorlacius S, Sulem P, Geller F, Aben KK, Stacey SN, Gudmundsson J, Jakobsdottir M, Bergthorsson JT, Sigurdsson A, Blondal T, Witjes JA, Vermeulen SH, Hulsbergen-van de Kaa CA, Swinkels DW, Ploeg M, Cornel EB, Vergunst H, Thorgeirsson TE, Gudbjartsson D, Gudjonsson SA, Thorleifsson G, Kristinsson KT, Mouy M, Snorradottir S, Placidi D, Campagna M, Arici C, Koppova K, Gurzau E, Rudnai P, Kellen E, Polidoro S, Guarrera S, Sacerdote C, Sanchez M, Saez B, Valdivia G, Ryk C, de Verdier P, Lindblom A, Golka K, Bishop DT, Knowles MA, Nikulasson S, Petursdottir V, Jonsson E, Geirsson G, Kristjansson B, Mayordomo JI, Steineck G, Porru S, Buntinx F, Zeegers MP, Fletcher T, Kumar R, Matullo G, Vineis P, Kiltie AE, Gulcher JR, Thorsteinsdottir U, Kong A, Rafnar T, Stefansson K (2008) Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet 40:1307–1312PubMedCrossRefGoogle Scholar
  35. 35.
    Kim WD, Lee YH (2006) A fatal case of severe hemolytic disease of newborn associated with anti-Jk(b). J Korean Med Sci 21:151–154PubMedCentralPubMedCrossRefGoogle Scholar
  36. 36.
    Klein JD, Murrell BP, Tucker S, Kim YH, Sands JM (2006) Urea transporter UT-A1 and aquaporin-2 proteins decrease in response to angiotensin II or norepinephrine-induced acute hypertension. Am J Physiol Renal Physiol 291:F952–F959PubMedCrossRefGoogle Scholar
  37. 37.
    Koutros S, Baris D, Fischer A, Tang W, Garcia-Closas M, Karagas MR, Schwenn M, Johnson A, Figueroa J, Waddell R, Prokunina-Olsson L, Rothman N, Silverman DT (2013) Differential urinary specific gravity as a molecular phenotype of the bladder cancer genetic association in the urea transporter gene, SLC14A1. Int J Cancer 133:3008–3013PubMedGoogle Scholar
  38. 38.
    Lerut E, Van Damme B, Noizat-Pirenne F, Emonds MP, Rouger P, Vanrenterghem Y, Pirenne J, Ansart-Pirenne H (2007) Duffy and Kidd blood group antigens: minor histocompatibility antigens involved in renal allograft rejection? Transfusion 47:28–40PubMedCrossRefGoogle Scholar
  39. 39.
    Lin M, Yu LC (2008) Frequencies of the JKnull (IVS5-1 g > a) allele in Taiwanese, Fujian, Filipino, and Indonesian populations. Transfusion 48:1768PubMedCrossRefGoogle Scholar
  40. 40.
    Linz WJ, Muenster S, Watkins J, Moore SB (2003) Transfusion medicine illustrated. Lack of effect of 2 M urea on Jk(a-b-) cells. Transfusion 43:685PubMedCrossRefGoogle Scholar
  41. 41.
    Liu HM, Lin JS, Chen PS, Lyou JY, Chen YJ, Tzeng CH (2009) Two novel Jk(null) alleles derived from 222C> A in Exon 5 and 896G> A in Exon 9 of the JK gene. Transfusion 49:259–264PubMedCrossRefGoogle Scholar
  42. 42.
    Lomas-Francis C (2007) The value of DNA analysis for antigens of the Kidd blood group system. Transfusion 47:23s–27sPubMedCrossRefGoogle Scholar
  43. 43.
    Lucien N, Chiaroni J, Cartron JP, Bailly P (2002) Partial deletion in the JK locus causing a Jk(null) phenotype. Blood 99:1079–1081PubMedCrossRefGoogle Scholar
  44. 44.
    Lucien N, Sidoux-Walter F, Olives B, Moulds J, Le Pennec PY, Cartron JP, Bailly P (1998) Characterization of the gene encoding the human Kidd blood group/urea transporter protein. Evidence for splice site mutations in Jknull individuals. J Biol Chem 273:12973–12980PubMedCrossRefGoogle Scholar
  45. 45.
    Lucien N, Sidoux-Walter F, Roudier N, Ripoche P, Huet M, Trinh-Trang-Tan MM, Cartron JP, Bailly P (2002) Antigenic and functional properties of the human red blood cell urea transporter hUT-B1. J Biol Chem 277:34101–34108PubMedCrossRefGoogle Scholar
  46. 46.
    Lundevall J (1956) The Kidd blood group system investigated with anti-JKa. Acta Pathol Microbiol Scand 38:39–42PubMedCrossRefGoogle Scholar
  47. 47.
    Marshall CS, Dwyre D, Eckert R, Russell L (1999) Severe hemolytic reaction due to anti-JK3. Arch Pathol Lab Med 123:949–951PubMedGoogle Scholar
  48. 48.
    Martial S, Ripoche P, Ibarra C (1991) Functional expression of urea channels in amphibian oocytes injected with frog urinary bladder mRNA. Biochim Biophys Acta 1090:86–90PubMedCrossRefGoogle Scholar
  49. 49.
    McAlpine PJ, Bootsma D (1982) Report of the committee on the genetic constitution of chromosomes 2, 3, 4, and 5. Birth Defects Orig Artic Ser 18:121–129PubMedGoogle Scholar
  50. 50.
    Meng Y, Zhou X, Li Y, Zhao D, Liang S, Zhao X, Yang B (2005) A novel mutation at the JK locus causing Jk null phenotype in a Chinese family. Sci China C Life Sci 48:636–640PubMedCrossRefGoogle Scholar
  51. 51.
    Murta-Nascimento C, Silverman DT, Kogevinas M, Garcia-Closas M, Rothman N, Tardon A, Garcia-Closas R, Serra C, Carrato A, Villanueva C, Dosemeci M, Real FX, Malats N (2007) Risk of bladder cancer associated with family history of cancer: do low-penetrance polymorphisms account for the increase in risk? Cancer Epidemiol Biomarkers Prev 16:1595–1600PubMedCrossRefGoogle Scholar
  52. 52.
    Neau P, Degeilh F, Lamotte H, Rousseau B, Ripoche P (1993) Photoaffinity labeling of the human red-blood-cell urea-transporter polypeptide components. Possible homology with the Kidd blood group antigen. Eur J Biochem 218:447–455PubMedCrossRefGoogle Scholar
  53. 53.
    Okubo Y, Yamaguchi H, Nagao N, Tomita T, Seno T, Tanaka M (1986) Heterogeneity of the phenotype Jk (a-b-) found in Japanese. Transfusion 26:237–239PubMedCrossRefGoogle Scholar
  54. 54.
    Olives B, Mattei MG, Huet M, Neau P, Martial S, Cartron JP, Bailly P (1995) Kidd blood group and urea transport function of human erythrocytes are carried by the same protein. J Biol Chem 270:15607–15610PubMedCrossRefGoogle Scholar
  55. 55.
    Olivès B, Merriman M, Bailly P, Bain S, Barnett A, Todd J, Cartron J-P, Merriman T (1997) The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility. Hum Mol Genet 6:1017–1020PubMedCrossRefGoogle Scholar
  56. 56.
    Olives B, Neau P, Bailly P, Hediger MA, Rousselet G, Cartron JP, Ripoche P (1994) Cloning and functional expression of a urea transporter from human bone marrow cells. J Biol Chem 269:31649–31652PubMedGoogle Scholar
  57. 57.
    Onodera T, Sasaki K, Tsuneyama H, Isa K, Ogasawara K, Satake M, Tadokoro K, Uchikawa M (2013) JK null alleles identified from Japanese individuals with Jk(a− b−) phenotype. Vox SangGoogle Scholar
  58. 58.
    Parkin DM (2008) The global burden of urinary bladder cancer. Scand J Urol Nephrol Suppl 42:12–20CrossRefGoogle Scholar
  59. 59.
    Pinkerton F, Mermod L, Liles BA, Jack JA, Noades J (1959) The phenotype Jk (a-b-) in the kidd blood group system. Vox Sang 4:155–160PubMedCrossRefGoogle Scholar
  60. 60.
    Plaut G, Ikin EW, Mourant AE, Sanger R, Race RR (1953) A new blood-group antibody, anti-Jkb. nature 171:431Google Scholar
  61. 61.
    Ploeg M, Aben KK, Kiemeney LA (2009) The present and future burden of urinary bladder cancer in the world. World J Urol 27:289–293PubMedCentralPubMedCrossRefGoogle Scholar
  62. 62.
    Povey S, Morton NE, Sherman SL (1985) Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2. Cytogenet Cell Genet 40:67–106PubMedCrossRefGoogle Scholar
  63. 63.
    Prager M (2007) Molecular genetic blood group typing by the use of PCR-SSP technique. Transfusion 47:54s–59sPubMedCrossRefGoogle Scholar
  64. 64.
    Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A, Jakobsdottir M, Helgadottir H, Thorlacius S, Aben KK, Blondal T, Thorgeirsson TE, Thorleifsson G, Kristjansson K, Thorisdottir K, Ragnarsson R, Sigurgeirsson B, Skuladottir H, Gudbjartsson T, Isaksson HJ, Einarsson GV, Benediktsdottir KR, Agnarsson BA, Olafsson K, Salvarsdottir A, Bjarnason H, Asgeirsdottir M, Kristinsson KT, Matthiasdottir S, Sveinsdottir SG, Polidoro S, Hoiom V, Botella-Estrada R, Hemminki K, Rudnai P, Bishop DT, Campagna M, Kellen E, Zeegers MP, de Verdier P, Ferrer A, Isla D, Vidal MJ, Andres R, Saez B, Juberias P, Banzo J, Navarrete S, Tres A, Kan D, Lindblom A, Gurzau E, Koppova K, de Vegt F, Schalken JA, van der Heijden HF, Smit HJ, Termeer RA, Oosterwijk E, van Hooij O, Nagore E, Porru S, Steineck G, Hansson J, Buntinx F, Catalona WJ, Matullo G, Vineis P, Kiltie AE, Mayordomo JI, Kumar R, Kiemeney LA, Frigge ML, Jonsson T, Saemundsson H, Barkardottir RB, Jonsson E, Jonsson S, Olafsson JH, Gulcher JR, Masson G, Gudbjartsson DF, Kong A, Thorsteinsdottir U, Stefansson K (2009) Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet 41:221–227PubMedCrossRefGoogle Scholar
  65. 65.
    Rafnar T, Vermeulen SH, Sulem P, Thorleifsson G, Aben KK, Witjes JA, Grotenhuis AJ, Verhaegh GW, Hulsbergen-van de Kaa CA, Besenbacher S, Gudbjartsson D, Stacey SN, Gudmundsson J, Johannsdottir H, Bjarnason H, Zanon C, Helgadottir H, Jonasson JG, Tryggvadottir L, Jonsson E, Geirsson G, Nikulasson S, Petursdottir V, Bishop DT, Chung-Sak S, Choudhury A, Elliott F, Barrett JH, Knowles MA, de Verdier PJ, Ryk C, Lindblom A, Rudnai P, Gurzau E, Koppova K, Vineis P, Polidoro S, Guarrera S, Sacerdote C, Panadero A, Sanz-Velez JI, Sanchez M, Valdivia G, Garcia-Prats MD, Hengstler JG, Selinski S, Gerullis H, Ovsiannikov D, Khezri A, Aminsharifi A, Malekzadeh M, van den Berg LH, Ophoff RA, Veldink JH, Zeegers MP, Kellen E, Fostinelli J, Andreoli D, Arici C, Porru S, Buntinx F, Ghaderi A, Golka K, Mayordomo JI, Matullo G, Kumar R, Steineck G, Kiltie AE, Kong A, Thorsteinsdottir U, Stefansson K, Kiemeney LA (2011) European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Hum Mol Genet 20:4268–4281PubMedCentralPubMedCrossRefGoogle Scholar
  66. 66.
    Ranade K, Wu KD, Hwu CM, Ting CT, Pei D, Pesich R, Hebert J, Chen YD, Pratt R, Olshen R, Masaki K, Risch N, Cox DR, Botstein D (2001) Genetic variation in the human urea transporter-2 is associated with variation in blood pressure. Hum Mol Genet 10:2157–2164PubMedCrossRefGoogle Scholar
  67. 67.
    Rothman N, Garcia-Closas M, Chatterjee N, Malats N, Wu X, Figueroa JD, Real FX, Van Den Berg D, Matullo G, Baris D, Thun M, Kiemeney LA, Vineis P, De Vivo I, Albanes D, Purdue MP, Rafnar T, Hildebrandt MA, Kiltie AE, Cussenot O, Golka K, Kumar R, Taylor JA, Mayordomo JI, Jacobs KB, Kogevinas M, Hutchinson A, Wang Z, Fu YP, Prokunina-Olsson L, Burdett L, Yeager M, Wheeler W, Tardon A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Johnson A, Schwenn M, Karagas MR, Schned A, Andriole G, Jr., Grubb R, 3rd, Black A, Jacobs EJ, Diver WR, Gapstur SM, Weinstein SJ, Virtamo J, Cortessis VK, Gago-Dominguez M, Pike MC, Stern MC, Yuan JM, Hunter DJ, McGrath M, Dinney CP, Czerniak B, Chen M, Yang H, Vermeulen SH, Aben KK, Witjes JA, Makkinje RR, Sulem P, Besenbacher S, Stefansson K, Riboli E, Brennan P, Panico S, Navarro C, Allen NE, Bueno-de-Mesquita HB, Trichopoulos D, Caporaso N, Landi MT, Canzian F, Ljungberg B, Tjonneland A, Clavel-Chapelon F, Bishop DT, Teo MT, Knowles MA, Guarrera S, Polidoro S, Ricceri F, Sacerdote C, Allione A, Cancel-Tassin G, Selinski S, Hengstler JG, Dietrich H, Fletcher T, Rudnai P, Gurzau E, Koppova K, Bolick SC, Godfrey A, Xu Z, Sanz-Velez JI, M DG-P, Sanchez M, Valdivia G, Porru S, Benhamou S, Hoover RN, Fraumeni JF, Jr., Silverman DT, Chanock SJ (2010) A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet 42:978–984Google Scholar
  68. 68.
    Rourk A, Squires JE (2012) Implications of the Kidd blood group system in renal transplantation. Immunohematology 28:90–94PubMedGoogle Scholar
  69. 69.
    Rozman P, Dovc T, Gassner C (2000) Differentiation of autologous ABO, RHD, RHCE, KEL, JK, and FY blood group genotypes by analysis of peripheral blood samples of patients who have recently received multiple transfusions. Transfusion 40:936–942PubMedCrossRefGoogle Scholar
  70. 70.
    Shokeir M, Ying K, Pabello P (1973) Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus. Clin Genet 4:360–368PubMedCrossRefGoogle Scholar
  71. 71.
    Sidoux-Walter F, Lucien N, Nissinen R, Sistonen P, Henry S, Moulds J, Cartron JP, Bailly P (2000) Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns. Blood 96:1566–1573PubMedGoogle Scholar
  72. 72.
    Skolnick MH, Willard HF, Menlove LA (1984) Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet 37:210–273PubMedCrossRefGoogle Scholar
  73. 73.
    Spector DA, Yang Q, Wade JB (2007) High urea and creatinine concentrations and urea transporter B in mammalian urinary tract tissues. Am J Physiol Renal Physiol 292:F467–F474PubMedCrossRefGoogle Scholar
  74. 74.
    Sriwanitchrak P, Sriwanitchrak K, Tubrod J, Kupatawintu P, Kaset C, Nathalang O (2012) Genomic characterisation of the Jk(a-b-) phenotype in Thai blood donors. Blood Transfus 10:181–185PubMedCentralPubMedGoogle Scholar
  75. 75.
    St-Louis M, Lavoie J, Caron S, Paquet M, Perreault J (2013) A novel JK*02 allele in a French Canadian family. Transfusion 53:3024PubMedGoogle Scholar
  76. 76.
    Tanaka M, Takahahi J, Hirayama F, Tani Y (2011) High-resolution melting analysis for genotyping Duffy, Kidd and Diego blood group antigens. Leg Med (Tokyo) 13:1–6CrossRefGoogle Scholar
  77. 77.
    Thakral B, Malhotra S, Saluja K, Kumar P, Marwaha N (2010) Hemolytic disease of newborn due to anti-Jk b in a woman with high risk pregnancy. Transfus Apher Sci 43:41–43PubMedCrossRefGoogle Scholar
  78. 78.
    Tomar V, Dhingra N, Madan N, Faridi MM (1998) Hemolytic disease of the newborn due to maternal anti-Kidd (anti-Jkb). Indian Pediatr 35:1251–1253PubMedGoogle Scholar
  79. 79.
    Tsai HJ, Hsiao CF, Ho LT, Chuang LM, He CT, Curb JD, Quertermos T, Hsiung CA, Sheu WH (2010) Genetic variants of human urea transporter-2 are associated with metabolic syndrome in Asian population. Clin Chim Acta 411:2009–2013PubMedCrossRefGoogle Scholar
  80. 80.
    Vaarala MH, Hirvikoski P, Kauppila S, Paavonen TK (2012) Identification of androgen-regulated genes in human prostate. Mol Med Rep 6:466–472PubMedCentralPubMedGoogle Scholar
  81. 81.
    Vucelic D, Savic N, Djordjevic R (2005) Delayed hemolytic transfusion reaction due to anti-Jk(a). Acta Chir Iugosl 52:111–115PubMedCrossRefGoogle Scholar
  82. 82.
    Wester ES, Johnson ST, Copeland T, Malde R, Lee E, Storry JR, Olsson ML (2008) Erythroid urea transporter deficiency due to novel JKnull alleles. Transfusion 48:365–372PubMedGoogle Scholar
  83. 83.
    Wester ES, Storry JR, Olsson ML (2011) Characterization of Jk(a+ (weak)): a new blood group phenotype associated with an altered JK*01 allele. Transfusion 51:380–392PubMedCrossRefGoogle Scholar
  84. 84.
    Wolff EM, Liang G, Jones PA (2005) Mechanisms of disease: genetic and epigenetic alterations that drive bladder cancer. Nat Clin Pract Urol 2:502–510PubMedCrossRefGoogle Scholar
  85. 85.
    Woodfield D, Douglas R, Smith J, Simpson A, Pinder L, Staveley J (1982) The Jk (a− b−) phenotype in New Zealand Polynesians. Transfusion 22:276–278PubMedCrossRefGoogle Scholar
  86. 86.
    Wright EM, Loo DD, Hirayama BA (2011) Biology of human sodium glucose transporters. Physiol Rev 91:733–794PubMedCrossRefGoogle Scholar
  87. 87.
    Wu X, Ye Y, Kiemeney LA, Sulem P, Rafnar T, Matullo G, Seminara D, Yoshida T, Saeki N, Andrew AS, Dinney CP, Czerniak B, Zhang ZF, Kiltie AE, Bishop DT, Vineis P, Porru S, Buntinx F, Kellen E, Zeegers MP, Kumar R, Rudnai P, Gurzau E, Koppova K, Mayordomo JI, Sanchez M, Saez B, Lindblom A, de Verdier P, Steineck G, Mills GB, Schned A, Guarrera S, Polidoro S, Chang SC, Lin J, Chang DW, Hale KS, Majewski T, Grossman HB, Thorlacius S, Thorsteinsdottir U, Aben KK, Witjes JA, Stefansson K, Amos CI, Karagas MR, Gu J (2009) Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nat Genet 41:991–995PubMedCentralPubMedCrossRefGoogle Scholar
  88. 88.
    Yan L, Zhu F, Fu Q (2003) Jk(a-b-) and Kidd blood group genotypes in Chinese people. Transfusion 43:289–291PubMedCrossRefGoogle Scholar
  89. 89.
    You G, Smith CP, Kanai Y, Lee WS, Stelzner M, Hediger MA (1993) Cloning and characterization of the vasopressin-regulated urea transporter. Nature 365:844–847PubMedCrossRefGoogle Scholar
  90. 90.
    Zemunik T, Boban M, Lauc G, Jankovic S, Rotim K, Vatavuk Z, Bencic G, Dogas Z, Boraska V, Torlak V, Susac J, Zobic I, Rudan D, Pulanic D, Modun D, Mudnic I, Gunjaca G, Budimir D, Hayward C, Vitart V, Wright AF, Campbell H, Rudan I (2009) Genome-wide association study of biochemical traits in Korcula Island, Croatia. Croat Med J 50:23–33PubMedCentralPubMedCrossRefGoogle Scholar
  91. 91.
    Zhang RB, Verkman AS (1991) Water and urea permeability properties of Xenopus oocytes: expression of mRNA from toad urinary bladder. Am J Physiol 260:C26–C34PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of Anatomy and Neuroscience Center, Basic Medical CollegeChongqing Medical UniversityChongqingChina
  2. 2.Department of Nephrology, The Second Affiliated HospitalChongqing Medical UniversityChongqingChina

Personalised recommendations