Genetic and biological effects of sodium-chloride cotransporter (SLC12A3) in diabetic nephropathy

American Journal of Nephrology

Volumn 40, Issue 5, 2014, Pages 408-416

  Abu Seman, Norhashimah ^a,b   He, Bing ^c   Ojala, Juha R M ^c   Wan Mohamud, Wan Nazaimoon ^b   Östenson, Claes Göran ^a   Brismar, Kerstin ^a   Gu, Harvest F ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b INSTITUTE FOR MEDICAL RESEARCH   (Malaysia)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Diabetic nephropathy; SLC12A3; Type 2 diabetes

Indexed keywords

ARGININE; CREATININE; GLUTAMINE; MESSENGER RNA; SODIUM CHLORIDE COTRANSPORTER; SLC12A3 PROTEIN, HUMAN; SLC12A3 PROTEIN, MOUSE; SOLUTE CARRIER FAMILY 12, MEMBER 3; ZEBRAFISH PROTEINS;

ADULT; AGED; ALLELE; AMERICAN; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOINFORMATICS; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DB/DB MOUSE; DIABETIC NEPHROPATHY; DIABETIC PATIENT; EMBRYO; END STAGE RENAL DISEASE; ETHNIC DIFFERENCE; EXON; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE OVEREXPRESSION; GENE SILENCING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HEREDITY; HUMAN; JAPANESE (PEOPLE); KIDNEY DEVELOPMENT; KIDNEY TUBULE EPITHELIUM; KOREAN (PEOPLE); MAJOR CLINICAL STUDY; MALAYSIA; MALAYSIAN; MALE; MOUSE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PRIORITY JOURNAL; PRONEPHROS; PROTEIN EXPRESSION; PROTEIN STRUCTURE; REAL TIME POLYMERASE CHAIN REACTION; RECEPTOR UPREGULATION; RENAL REPLACEMENT THERAPY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION; WILD TYPE; ZEBRA FISH; ANIMALS; CASE-CONTROL STUDIES; COMPLICATION; DIABETES MELLITUS, TYPE 2; DIABETIC NEPHROPATHIES; EMBRYOLOGY; GENE KNOCKDOWN TECHNIQUES; GENETIC PREDISPOSITION TO DISEASE; GENETICS; HUMANS; KIDNEY; METABOLISM; MICE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; ZEBRAFISH;

ADULT; AGED; ANIMALS; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 2; DIABETIC NEPHROPATHIES; FEMALE; GENE KNOCKDOWN TECHNIQUES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY; MALE; MICE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SOLUTE CARRIER FAMILY 12, MEMBER 3; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84911482512     PISSN: 02508095     EISSN: 14219670     Source Type: Journal    
DOI: 10.1159/000368916     Document Type: Article

References (29)

1. Letchuman GR, Wan Nazaimoon WM, Wan Mohamad WB, Chandran LR, Tee GH, Jamaiyah H, Isa MR, Zanariah H, Fatanah I, Ahmad Faudzi Y: Prevalence of diabetes in the Malaysian National Health Morbidity Survey III 2006. Med J Malaysia 2010; 65: 180-186.
2. Lim YN, Lim TO, Lee DG, Wong HS, Ong LM, Shaariah W, Rozina G, Morad Z: A report of the Malaysian dialysis registry of the National Renal Registry, Malaysia. Med J Malaysia 2008; 63(suppl C):5-8.
3. Hooi LS, Wong HS, Morad Z: Prevention of renal failure: The Malaysian experience. Kidney Int Suppl 2005; 94:S70-S74.
4. Liu WJ, Hooi LS: Patients with end stage renal disease: A registry at Sultanah Aminah Hospital, Johor Bahru, Malaysia. Med J Malaysia 2007; 62: 197-200.
5. Shaza AM, Rozina G, Izham MI, Azhar SS: Dialysis for end stage renal disease: A descriptive study in Penang Hospital. Med J Malaysia 2005; 60: 320-327.
6. Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G: Molecular cloning, expression pattern, and chr omosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics 1996; 35: 486-493.
7. Tanaka N Babazono T Saito S Sekine A Tsunoda T Haneda M Tanaka Y Fujioka T Kaku K Kawamori R Kikkawa R Iwamoto Y Nakamura Y Maeda S Association of solute carrier family 12 (sodium/chloride) memberwith diabetic nephropathy, identified by genome-wide analyses of single nucleotide polymorphisms. Diabetes 2003; 52: 2848-2853.
8. Nishiyama K, Tanaka Y, Nakajima K, Mokubo A, Atsumi Y, Matsuoka K, Watada H, Hirose T, Nomiyama T, M aeda S, Kawamori R: Polymorphism of the solute carrier family 12 (sodium/chloride transporters) member 3, SLC12A3, gene at exon 23 (+78G/A: Arg913Gln) is associated with elevation of urinary albumin excretion in Japanese patients with type 2 diab etes: A 10-year longitudinal study. Diabetologia 2005; 48: 1335-1338.
9. Kim JH, Shin HD, Park BL, Moon MK, Cho YM, Hwang YH, Oh KW, Kim SY, Lee HK, Ahn C, Park KS: SLC1 2A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy. Diabetes 2006; 55: 843-848.
10. Ng DP, Nurbaya S, Choo S, Ko h D, Chia KS, Krolewski AS: Genetic variation at the SLC12A3 locus is unlikely to explain risk for advanced diabetic nephropathy in Caucasians with type 2 diabetes. Nephrol Dial Transplant 2008; 23: 2260-2264.
11. WHO: Definition, Diagnosis and Classification of Diabetes Mellitus and its Complications. Part 1: Diagnosis and Classification of Diabetes Mellitus. WHO/NCD/NCS/99.2. Geneva, World Health Organization, 1999.
12. Molitch ME DeFronzo RA, Franz MJ, Keane WF, Mogensen CE, Parving HH, Steffes MW; American Diabetes Association: Nephropathy in diabetes. Diabetes Care. 2004; 27(suppl 1):S79-S83.
13. Herget-Rosenthal S, Bokenkamp A, Hofmann W: How to estimate GFR-serum creatinine, serum cystatin C or equations? Clin Biochem 2007; 40: 153-161.
14. Borenstein M, Hedges L, Hi ggins J, Rothstein H: Comprehensive Meta-analysis Version 2, Biostat, Englewood NJ, 2005.
15. Wallace AC, Borkakoti N, Thornton JM: TESS: A geometric hashing algorithm for deriving 3D coordinate templates for searching structural databases. Application to enzyme active sites. Protein Sci 1997; 6: 2308-2323.
16. Chen CC, Hwang JK, Yang JM: (PS)2: Protein structure prediction server. Nucleic Acids Res 2006; 34:W152-W157.
17. Zhang D, Freedman BI, Flekac M, Santos E, Hicks PJ, Bowden DW, Efendic S, Brismar K, Gu HF: Evaluation of genetic association and expression reduction of TRPC1 in the development of diabetic nephropathy. Am J Nephrol 2009; 29: 244-251.
18. Brunetti A, Chiefari E, Foti D: Recent advances in the molecular genetics of type 2 diabetes mellitus. World J Diabetes 2014; 5: 128-140.
19. Basile KJ, Johnson ME, Xia Q, Grant SF: Genetic susceptibility to type 2 diabetes and obesity: Follow-up of findings from genome-wide association studies. Int J Endocrino l 2014: 769671.
20. Gu HF, Brismar K: Genetic association studies in diabetic nephropathy. Curr Diabetes Rev 2012; 8: 336-344.
21. Sharma K, McCue P, Dunn SR: Diabetic kidney disease in the db/db mouse. Am J Physiol Renal Physiol 2003; 284:F1138-F1144.
22. Hwang PP, Chou MY: Zebrafish as an animal model to study ion homeostasis. Pflugers Arch 2013; 465: 1233-1247.
23. Goldsmith JR, Jobin C: Think small: Zebrafish as a model system of human pathology. J Biomed Biotechnol 2012:817341.
24. Drummond IA, Davidson AJ. Zebrafish kidney development. Methods Cell Biol 2010; 100: 233-260.
25. Nakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D: Gitelman's syndrome: A pathophysiological and clinical update. Endocrine 2012; 41: 53-57.
26. Reissinger A, Ludwig M, Utsch B, Prömse A, Baulmann J, Weisser B, Vetter H, Kramer HJ, Bokemeyer D: Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. K idney Blood Press Res 2002; 25: 354-362.
27. Bhandari S: The pathophysiological and molecular basis of Bartter's and Gitelman's syndromes. Postgrad Med J 1999; 75: 391-396.
28. Glover M, Zuber AM, O'Shaughnessy KM: Hypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCT. Cardiovasc Ther 2011; 29: 68-76.
29. Ellison DH: The thiazide-sensitive na-cl cotransporter and human disease: Reemergence of an old player. J Am Soc Nephrol 2003; 14: 538-540.