The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree
The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree
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DOI：
10.1007/s100380050148
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发表时间：
1999-01-01
影响因子：
3.5
通讯作者：
Hegele, RA
中科院分区：
文献类型：
--
作者：
Busch, CP;Harris, SB;Hegele, RA
由于内收蛋白调节细胞钠潴留，因此编码内收蛋白a亚基的ADD 1是血压变化的有吸引力的候选基因。在来自不同遗传背景的各种人群样本中进行的关联研究检查了ADD 1密码子460（G460 W）多态性与高血压和血压之间的关系，得到了不一致的结果。我们研究了ADD 1 G460 W多态性和血压变化之间的关联，在一个样本的非糖尿病，主要是血压正常的加拿大Oji-Cree从北方安大略的一个孤立的社区。在481名Oji-Cree受试者中，我们测量了血压和相关的临床表型，并确定了ADD 1 G460 W的基因型。我们观察到ADD 1 W 460变体的等位基因频率为0.08，这是迄今为止在人群中观察到的最低频率。我们发现收缩压和舒张压的变化与性别、年龄、体重指数（BMI）和高血压治疗之间存在显著相关性。然而，我们发现ADD 1 W 460等位基因与血压升高之间没有关联，也没有观察到高血压亚组中W 460等位基因的频率高于血压正常的受试者。虽然ADD 1 W 460的低样本频率与高血压的低样本患病率一致，但与血压和高血压缺乏特异性相关性表明ADD 1 W 460变异体不是这种一般背景的个体中血压的重要决定因素。
Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the a-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, which were performed in a variety of human population samples derived from different genetic backgrounds, have given inconsistent results. We examined the association between the ADD1 G460W polymorphism and variation in blood pressure in a sample of non-diabetic, largely normotensive Canadian Oji-Cree from an isolated community in Northern Ontario. Among 481 Oji-Cree subjects, we measured blood pressure and related clinical phenotypes and determined genotypes of ADD1 G460W, We observed an allele frequency of 0.08 for the ADD1 W460 variant, which is among the lowest so far observed in human populations. We found significant associations between variation in both systolic and diastolic blood pressure and gender, age, body mass index (BMI) and treatment for hypertension. However, we found no association between the ADD1 W460 allele and increased blood pressure, nor did we observe a higher frequency of the W460 allele in a hypertensive subgroup compared with normotensive subjects. While the low sample frequency of ADD1 W460 is consistent with the low sample prevalence of hypertension, the absence of a specific association with both blood pressure and hypertension suggests that the ADD1 W460 variant is not an important determinant of blood pressure among individuals of this generic background.