ゲノム部コミュの韓国型精神分裂病の遺伝的要素を発見

いつもオガ酸さんがネタを出しているので,
今日見た真新しい記事を一つ.



韓国型精神分裂病の遺伝的要素を発見

西洋の人にはなく、韓国人の精神分裂病患者にのみあらわれる遺伝子の変移が、韓国内の研究陣によって確認された。

蔚山（ウルサン）医大・ソウル峨山（アサン）病院の宋奎暎（ソン・ギュヨン、生化学科）、金昌潤（キム・チャンウン、精神科）教授らは２３日、精神分裂病の患者３２０人と正常な人３７９人を対象に、体内のＣＯＭＴ（カテコール−０−メチル基転移酵素）遺伝子の一塩基変異多型（ＳＮＰ、特定遺伝子の変移）を調べたところ、７２番のアミノ酸が「アラニン」から「リン酸」に変わる場合、精神分裂病の危険性が高まることが分かった、と発表した。

今回の研究結果は、遺伝体研究分野の米学術誌「ヒューマンジェナティックス」（Ｈｕｍａｎ　Ｇｅｎｅｔｉｃｓ）の今年１月号に掲載された。

2005.01.23 16:29


http://japanese.joins.com/html/2005/0123/20050123162933400.html


掲載されている論文がNCBIから閲覧で来たんで, コピペしておきます.

Hum Genet. 2005 Jan 12; [Epub ahead of print]
Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans

Seong-Gene Lee

Abstract
Catechol-O-methyltransferase (COMT) inactivates circulating catechol hormones, catechol neurotransmitters, and xenobiotic catecholamines by methylating their catechol moieties. The COMT gene has been suggested as a candidate gene for schizophrenia through linkage analyses and molecular studies of velo-cardio-facial syndrome. A coding polymorphism of the COMT gene at codon 108/158 (soluble/membrane-bound form) causing a valine to methionine substitution has been shown to influence enzyme activity, but its association with schizophrenia is inconclusive. We have screened 17 known polymorphisms of the COMT gene in 320 Korean schizophrenic patients and 379 controls to determine whether there is a positive association with a nonsynonymous single-nucleotide polymorphism (rs6267) at codon 22/72 (soluble/membrane-bound form) causing an alanine-to-serine (Ala/Ser) substitution. With the Ala/Ala genotype as a reference group, the combined genotype (Ala/Ser and Ser/Ser)-specific adjusted odds ratio was 1.82 (95% CI=1.19–2.76; P=0.005), suggesting the Ser allele as a risk allele for schizophrenia. However, the Val/Met polymorphism was not associated with an increased risk of schizophrenia in Koreans (OR=0.88, 95% CI=0.64–1.21; P=0.43). The Ala72Ser substitution was correlated with reduced COMT enzyme activity. Our results support previous reports that the COMT haplotype implicated in schizophrenia is associated with low COMT expression.