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

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.

• Authors: Sandra J Hasstedt, Yuanpei Xin, Paul N Hopkins, Steven C Hunt
• Journal: Journal of hypertension (J Hypertens) Vol. 28 Issue 4 Pg. 740-7 (Apr 2010) ISSN: 1473-5598 [Electronic] England
• PMID: 20009768 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• Sodium-Potassium-Exchanging ATPase

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 1
• Chromosomes, Human, Pair 10
• Chromosomes, Human, Pair 13
• Chromosomes, Human, Pair 17
• Chromosomes, Human, Pair 18
• Chromosomes, Human, Pair 4
• Diabetes Mellitus, Type 2 (genetics)
• Female
• Genetic Linkage
• Humans
• Hypertension (genetics)
• Male
• Obesity (genetics)
• Pedigree
• Polymorphism, Single Nucleotide
• Sex
• Sodium-Potassium-Exchanging ATPase (genetics)