No association of serotonin transporter gene (SLC6A4) with schizophrenia and bipolar disorder in Japanese patients: association analysis based on linkage disequilibrium
No association of serotonin transporter gene (SLC6A4) with schizophrenia and bipolar disorder in Japanese patients: association analysis based on linkage disequilibrium
复制标题
DOI：
10.1007/s00702-005-0349-6
复制
发表时间：
2006-07-01
影响因子：
3.3
通讯作者：
Ozaki, N.
中科院分区：
文献类型：
--
作者：
Ikeda, M.;Iwata, N.;Ozaki, N.
5-羟色胺转运体基因(SLC6A4)是精神分裂症(SCZ)、双相情感障碍(BP)等精神障碍的候选基因之一。5HTTLPR和5HTTVNTR2个功能多态已成为遗传关联分析的焦点，但尚未得到确凿的结果。我们进行了SLC6A4的突变搜索，2)LD作图选择标记标记(10个SNP和5HTTVNTR，而5HTTLPR因其等位基因形式而被视为独立标记)，以及3)这些标记标记和独立标记(5HTTLPR和Asn605Lys)与日本患者的SCZ和BP的关联分析。在这次突变搜索中，检测到了一个非同义SNP Asn605Lys。没有发现标记标记和独立标记与这些条件的关联。这些结果表明SLC6A4在日本患者的SCZ和BP中可能不起主要作用，这一发现与常见疾病-常见变异假说和常见疾病-罕见变异假说相一致。
Serotonin transporter gene (SLC6A4) is one of the most promising candidate genes for psychiatric disorders such as schizophrenia (SCZ) and bipolar disorder (BP). Two functional polymorphisms, 5HTTLPR and 5HTTVNTR, have been a focus for genetic association analyses; however, no conclusive results have been obtained. We conducted, 1) a mutation search of SLC6A4, 2) LD mapping to select 'tagging' markers (10 SNPs and 5HTTVNTR, while 5HTTLPR was treated as an independent marker because of its allelic form), and 3) association analysis of these 'tagging' markers and independent markers (5HTTLPR and Asn605Lys) with SCZ and BP in Japanese patients. In this mutation search, a nonsynonymous SNP, Asn605Lys, was detected. No associations of 'tagging' markers and independent markers with such conditions were found. These results indicate that SLC6A4 might not play a major role in SCZ and BP in Japanese patients, a finding that agrees with both the common disease-common variant hypothesis and common disease-rare variant hypothesis.