Department of Human Genetics, University of Utah School of Medicine, University of Utah, Salt Lake City, Utah 84112, USA.
J Hypertens. 2010 Apr;28(4):740-7. doi: 10.1097/HJH.0b013e3283353d41.
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.
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.
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).
Pump number is influenced by multiple genes, possibly including neuropeptide Y receptor Y2.
钠泵由膜结合酶钠/钾-ATP 酶组成，该酶将细胞内的钠离子交换为细胞外的钾离子。肥胖、高血压和糖尿病与钠泵的活性有关，这促使人们发现与钠泵数量相关的基因。
应用方差分量连锁分析方法，对 46 个犹他州家系的 1375 名成员进行哇巴因结合试验测量的红细胞钠泵数量进行分析。对泵数量进行了一维（1D）和二维（2D）全染色体连锁分析，分别对男女子样本进行了分析。
在男女子样本中均发现两个显著的 1D 连锁：在男女子样本中均在 1p13 染色体上（1D 对数优势（LOD）评分=3.76），在女性子样本中在 17p21 染色体上（1D LOD 评分=3.24）。此外，在女性子样本中还发现两个显著的 2D 连锁：在 10q22 染色体与 18q11 染色体相互作用（2D LOD 评分=7.18），在 13q21 染色体与 4q31 染色体相互作用（2D LOD 评分=6.05）。肥胖相关基因神经肽 Y 受体 Y2 上的单核苷酸多态性 rs17376826 位于染色体 4q31 连锁区域的候选基因，与泵数量相关（男女子样本的 P 值分别为 0.046 和 0.042）。
泵数量受多个基因影响，可能包括神经肽 Y 受体 Y2。
