Berge K E, Berg K
Institute of Medical Genetics, University of Oslo, Norway.
Clin Genet. 1992 Feb;41(2):90-5. doi: 10.1111/j.1399-0004.1992.tb03640.x.
Endothelin is a peptide reported to be one of the most potent vasoconstrictors known. Presumably, endothelin could play a role in the physiological regulation of blood pressure in healthy or hypertensive people. We have studied a normal restriction fragment length polymorphism (RFLP) at the endothelin-I (EDN1) locus detected with the restriction enzyme TaqI. In three different series comprising 166, 120 and 207 unrelated individuals, we found no evidence for association between genotype in this polymorphism and level of systolic or diastolic blood pressure. In two series of 156 and 117 monozygotic (MZ) twin pairs, respectively, there was no difference between genotypes in within-pair variation in systolic or diastolic blood pressure. Thus neither "level gene" nor "variability gene" effects of normal genes at the EDN1 locus could be detected with the polymorphism analyzed, in healthy population samples.
内皮素是一种据报道为已知最强效血管收缩剂之一的肽。据推测，内皮素可能在健康人群或高血压患者的血压生理调节中发挥作用。我们研究了用限制性内切酶TaqI检测到的内皮素-1（EDN1）基因座处的正常限制性片段长度多态性（RFLP）。在由166名、120名和207名无关个体组成的三个不同系列中，我们未发现该多态性的基因型与收缩压或舒张压水平之间存在关联的证据。在分别由156对和117对同卵（MZ）双胞胎组成的两个系列中，同对双胞胎收缩压或舒张压的配对内差异在基因型之间没有差异。因此，在健康人群样本中，通过所分析的多态性无法检测到EDN1基因座正常基因的“水平基因”或“变异性基因”效应。
