Two-dimensional, sex-specific autosomal linkage scan of the number of sodium pump sites

Journal of Hypertension

Volumn 28, Issue 4, 2010, Pages 740-747

  Hasstedt, Sandra J ^a   Xin, Yuanpei ^a   Hopkins, Paul N ^a   Hunt, Steven C ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Diabetes; Genetics; Hypertension; Linkage analysis; Obesity; Sodium pump

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); NEUROPEPTIDE Y RECEPTOR;

ADULT; ARTICLE; AUTOSOME; BINDING ASSAY; CHROMOSOME 10Q; CHROMOSOME 17P; CHROMOSOME 18; ERYTHROCYTE; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; OBESITY; PEDIGREE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78650780074     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/HJH.0b013e3283353d41     Document Type: Article

References (30)

1. Geering K. Functional roles of Na,K-ATPase subunits. Curr Opin Nephrol Hypertens 2008; 17:526-532.
2. Iannello S, Milazzo P, Belfiore F. Animal and human tissue N,K-ATPase in normal and insulin-resistant states: regulation, behaviour and interpretative hypothesis on NEFA effects. Obes Rev 2007; 8:231-251.
3. Tiwari S, Riazi S, Ecelbarger CA. Insulin's impact on renal sodium transport and blood pressure in health, obesity, and diabetes. Am J Physiol Renal Physiol 2007; 293:F974-F984.
4. Vague P, Coste TC, Jannot MF, Raccah D, Tsimaratos M. C-peptide, Na+,K(+)-ATPase, and diabetes. Exp Diabesity Res 2004; 5:37-50.
5. Glorioso N, Herrera VL, Bagamasbad P, Filigheddu F, Troffa C, Argiolas G, et al. Association of ATP1A1 and dear single-nucleotide polymorphism haplotypes with essential hypertension: sex-specific and haplotype-specific effects. Circ Res 2007; 100:1522-1529.
6. Staessen JA, Bianchi G. Adducin and hypertension. Pharmacogenomics 2005; 6:665-669.
7. Torielli L, Tivodar S, Montella RC, Iacone R, Padoani G, Tarsini P, et al. Alpha-adducin mutations increase Na/K pump activity in renal cells by affecting constitutive endocytosis: implications for tubular Na reabsorption. Am J Physiol Renal Physiol 2008; 295:F478-F487.
8. Beeks E, Kessels AG, Kroon AA, van der Klauw MM, de Leeuw PW. Genetic predisposition to salt-sensitivity: a systematic review. J Hypertens 2004; 22:1243-1249.
9. Hasstedt SJ, Wu LL, Kuida H, Williams RR. Recessive inheritance of a high number of sodium pump sites. Am J Med Genet 1989; 34:332-337.
10. Williams RR, Hunt SC. Recruitment of members of high-risk Utah pedigrees. Control Clin Trials 1987; 8:105S-114S.
11. Weber JL, Broman KW. Genotyping for human whole-genome scans: past, present, and future. Adv Genet 2001; 42:77-96.
12. Hunt SC, Hasstedt SJ, Coon H, Camp NJ, Cawthon RM, Wu LL, et al. Linkage of creatinine clearance to chromosome 10 in Utah pedigrees replicates a locus for end-stage renal disease in humans and renal failure in the fawn-hooded rat. Kidney Int 2002; 62:1143-1148.
13. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996; 58:1323-1337.
14. Sobel E, Papp JC, Lange K. Detection and integration of genotyping errors in statistical genetics. Am J Hum Genet 2002; 70:496-508.
15. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 2005; 21:2556-2557.
16. Nievergelt CM, Smith DW, Kohlenberg JB, Schork NJ. Large-scale integration of human genetic and physical maps. Genome Res 2004; 14:1199-1205.
17. Heath SC. Markov chain segregation and linkage analysis for oligogenic models. Am J Hum Genet 1997; 61 :748-760.
18. De Luise M, Blackburn GL, Flier JS. Reduced activity of the red-cell sodium-potassium pump in human obesity. N Engl J Med 1980; 303:1017-1022.
19. Ash KO, Smith JB, Kemp JW, Lynch MB, Moody FG, Raymond JL, et al. The effect of diet on ouabain binding to erythrocytes from obese subjects. Clin Physiol Biochem 1983; 1 :293-299.
20. Hasstedt SJ. jPAP: document-driven software for genetic analysis. Genet Epidemiol 2005; 29:255.
21. Rao DC, Gu C. False positives and false negatives in genome scans. Adv Genet 2001; 42:487-498.
22. Self SG, Liang KY. Asymptotic properties of maximum likelihood estimators and likelihood ratio tests under nonstandard conditions. J Am Stat Assoc 1987; 82:605-610.
23. Bell JT, Wallace C, Dobson R, Wiltshire S, Mein C, Pembroke J, et al. Twodimensional genome-scan identifies novel epistatic loci for essential hypertension. Hum Mol Genet 2006; 15:1365-1374.
24. Torekov SS, Larsen LH, Andersen G, Albrechtsen A, Glumer C, Borch-Johnsen K, et al. Variants in the 5' region of the neuropeptide Y receptor Y2 gene (NPY2R) are associated with obesity in 5,971 white subjects. Diabetologia 2006; 49:2653-2658.
25. Patsopoulos NA, Tatsioni A, Ioannidis JP. Claims of sex differences: an empirical assessmentin genetic associations. JAMA 2007; 298:880-893.
26. Ober C, Loisel DA, Gilad Y. Sex-specific genetic architecture of human disease. Nat Rev Genet 2008; 9:911-922.
27. Weiss LA, Pan L, Abney M, Ober C. The sex-specific genetic architecture of quantitative traits in humans. Nat Genet 2006; 38:218-222.
28. Tschritter O, Machicao F, Stefan N, Schäfer S, Weigert C, Staiger H, et al. A new variant in the human Kv1.3 gene is associated with low insulin sensitivity and impaired glucose tolerance. J Clin Endocrinol Metab 2006; 91 :654-658.
29. Lynn KS, Li LL, Lin YJ, Wang CH, Sheng SH, Lin JH, et al. A neural network model for constructing endophenotypes of common complex diseases: an application to male young-onset hypertension microarray data. Bioinformatics 2009; 25:981-988.
30. TomásM, Vázquez E, Fernández-Fernández JM, Subirana I, Plata C, Heras M, et al. Genetic variation in the KCNMA1 potassium channel alpha subunit as risk factor for severe essential hypertension and myocardial infarction. J Hypertens 2008; 26:2147-2153.