García-Martín Elena, Ayuso P, Luengo Antonio, Martínez Carmen, Agúndez José Ag
Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.
BMC Med Genet. 2008 Mar 17;9:15. doi: 10.1186/1471-2350-9-15.
Changes in the density and expression of histamine receptors (HRH) have been detected in Parkinson's disease (PD) patients, and HRH antagonists bring about improvements in motor and other symptoms, thus suggesting that HRH play a role in the clinical response of PD patients. This study is aimed to analyse polymorphic variations of HRH in patients with PD.
Leukocytary DNA from 195 PD patients and a control group of 231 unrelated healthy individuals was studied for the nonsynonymous HRH1Leu449Ser and the promoter HRH2G-1018A polymorphisms by using amplification-restriction analyses.
The HRH1Leu449Ser amino acid substitution was identified in two women with late-onset PD whereas it was not observed among healthy subjects. The HRH2G-1018A polymorphism was observed with allele frequencies = 3.59 (95% CI = 1.74-5.44) and 5.0 (95% CI = 3.00-6.96) for patients with PD and healthy controls, respectively. These frequencies were independent of gender and age of onset of the disease. Multiple comparison analyses revealed that differences were not statistically significant.
These results indicate that the polymorphisms analyzed are not a major risk factor for PD, although the HRH1Leu449Ser amino acid substitution might be related to PD.
在帕金森病(PD)患者中已检测到组胺受体(HRH)密度和表达的变化,且HRH拮抗剂可改善运动及其他症状,这表明HRH在PD患者的临床反应中发挥作用。本研究旨在分析PD患者中HRH的多态性变异。
采用扩增-限制性分析,对195例PD患者及231名无亲缘关系的健康个体组成的对照组的白细胞DNA进行研究,以检测非同义HRH1Leu449Ser和启动子HRH2G-1018A多态性。
在两名晚发性PD女性患者中鉴定出HRH1Leu449Ser氨基酸替代,而在健康受试者中未观察到。PD患者和健康对照的HRH2G-1018A多态性的等位基因频率分别为3.59(95%CI = 1.74 - 5.44)和5.0(95%CI = 3.00 - 6.96)。这些频率与疾病的性别和发病年龄无关。多重比较分析显示差异无统计学意义。
这些结果表明,所分析的多态性不是PD的主要危险因素,尽管HRH1Leu449Ser氨基酸替代可能与PD有关。