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

Sandra J. Hasstedt, Yuanpei Xin, Paul N. Hopkins, Steven Hunt

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Objectives The sodium pump consists of the membrane-bound enzyme sodium/potassium-ATPase, which exchanges internal sodium ions for external potassium ions. Obesity, hypertension, and diabetes associate with the activity of the sodium pump, motivating gene discovery for sodium pump number. Methods Variance components linkage analysis was applied to the number of red blood cell sodium pump sites measured by ouabain-binding assays on 1375 members of 46 Utah pedigrees. Both one-dimensional (1D) and two-dimensional (2D) autosome-wide linkage analyses of pump number were performed on the combined sample as well as separately on the male and female subsets. Results Two significant 1D linkages were identified: on chromosome 1p13 in the combined sample [1D logarithm of odds (LOD) score = 3.76] and on chromosome 17p21 in the female subset (1D LOD score = 3.24). In addition, two significant 2D linkages were identified in the female subset: on chromosome 10q22 interacting with chromosome 18q11 (2D LOD score = 7.18) and on chromosome 13q21 interacting with chromosome 4q31 (2D LOD score = 6.05). Single-nucleotide polymorphism rs17376826 in neuropeptide Y receptor Y2, an obesity-associated gene and a candidate in the chromosome 4q31 linkage region, is associated with pump number (P = 0.046 in the combined sample and P = 0.042 in the female subset). Conclusion Pump number is influenced by multiple genes, possibly including neuropeptide Y receptor Y2.

Original languageEnglish
Pages (from-to)740-747
Number of pages8
JournalJournal of Hypertension
Volume28
Issue number4
DOIs
Publication statusPublished - Apr 2010
Externally publishedYes

Fingerprint

Sodium-Potassium-Exchanging ATPase
Chromosomes
Neuropeptide Y Receptors
Obesity
Ions
Genetic Association Studies
Ouabain
Pedigree
Genes
Single Nucleotide Polymorphism
Potassium
Erythrocytes
Sodium
Hypertension
Membranes
Enzymes

Keywords

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

ASJC Scopus subject areas

  • Internal Medicine
  • Physiology
  • Cardiology and Cardiovascular Medicine

Cite this

Two-dimensional, sex-specific autosomal linkage scan of the number of sodium pump sites. / Hasstedt, Sandra J.; Xin, Yuanpei; Hopkins, Paul N.; Hunt, Steven.

In: Journal of Hypertension, Vol. 28, No. 4, 04.2010, p. 740-747.

Research output: Contribution to journalArticle

Hasstedt, Sandra J. ; Xin, Yuanpei ; Hopkins, Paul N. ; Hunt, Steven. / Two-dimensional, sex-specific autosomal linkage scan of the number of sodium pump sites. In: Journal of Hypertension. 2010 ; Vol. 28, No. 4. pp. 740-747.
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abstract = "Objectives The sodium pump consists of the membrane-bound enzyme sodium/potassium-ATPase, which exchanges internal sodium ions for external potassium ions. Obesity, hypertension, and diabetes associate with the activity of the sodium pump, motivating gene discovery for sodium pump number. Methods Variance components linkage analysis was applied to the number of red blood cell sodium pump sites measured by ouabain-binding assays on 1375 members of 46 Utah pedigrees. Both one-dimensional (1D) and two-dimensional (2D) autosome-wide linkage analyses of pump number were performed on the combined sample as well as separately on the male and female subsets. Results Two significant 1D linkages were identified: on chromosome 1p13 in the combined sample [1D logarithm of odds (LOD) score = 3.76] and on chromosome 17p21 in the female subset (1D LOD score = 3.24). In addition, two significant 2D linkages were identified in the female subset: on chromosome 10q22 interacting with chromosome 18q11 (2D LOD score = 7.18) and on chromosome 13q21 interacting with chromosome 4q31 (2D LOD score = 6.05). Single-nucleotide polymorphism rs17376826 in neuropeptide Y receptor Y2, an obesity-associated gene and a candidate in the chromosome 4q31 linkage region, is associated with pump number (P = 0.046 in the combined sample and P = 0.042 in the female subset). Conclusion Pump number is influenced by multiple genes, possibly including neuropeptide Y receptor Y2.",
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