Association of a polymorphism of the 5HT2A receptor gene promoter region with alcohol dependence

Association of a polymorphism of the 5HT2A receptor gene promoter region with alcohol dependence
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DOI:
10.1038/sj.mp.4000474
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发表时间:
1999-01-01
影响因子:
11
通讯作者:
Higuchi, S
Higuchi, S
中科院分区:
医学1区
文献类型:
--
作者:
Nakamura, T;Matsushita, S;Higuchi, S

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尽管乙醛脱氢酶 2 (ALDH2) 处于非活性形式,但大约 10% 的日本酗酒者仍会患上这种疾病,(1) 由于饮酒后的不良反应,被称为酗酒的遗传威慑因素。(2) 此类酗酒者被认为在基因研究中具有优势,因为他们应表现出较低的异质性,并具有导致酒精依赖易感性的遗传因素。对 225 名 ALDH2 失活的日本酗酒者的血清素 2A (5HT2A) 受体基因 -1438 A/G 多态性进行的检查显示,与 361 名对照受试者相比,存在明显更多的 G 等位基因。 282 名具有活性 ALDH2 的酗酒者的 G 等位基因频率介于对照组和具有非活性 ALDH2 受试者的 G 等位基因频率之间。这些数据表明,虽然影响相对较小,但 5HT2A 受体的遗传变异与酒精依赖的发展有关。
Approximately 10% of Japanese alcoholics develop their disease despite having an inactive form of aldehyde dehydrogenase-2 (ALDH2),(1) known as a genetic deterrent of heavy drinking due to adverse reactions after drinking.(2) Such alcoholics are considered to be advantageous in genetic research because they should show reduced heterogeneity and possess genetic factors conferring susceptibility to alcohol dependence. Examination of the -1438 A/G polymorphism of the serotonin 2A (5HT2A) receptor gene in 225 Japanese alcoholics with inactive ALDH2 revealed the presence of significantly more of the G allele than was found in 361 control subjects. The frequency of the G allele in 282 alcoholics with active ALDH2 fell between the G allele frequencies of controls and subjects with inactive ALDH2. These data suggest that although the effect is relatively small, genetic variability in the 5HT2A receptor is involved in the development of alcohol dependence.