与血小板单胺氧化酶活性相关的单胺氧化酶A单倍型。
MAOA haplotypes associated with thrombocyte-MAO activity.
作者信息
Jansson Mårten, McCarthy Shane, Sullivan Patrick F, Dickman Paul, Andersson Björn, Oreland Lars, Schalling Martin, Pedersen Nancy L
机构信息
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
出版信息
BMC Genet. 2005 Sep 20;6:46. doi: 10.1186/1471-2156-6-46.
BACKGROUND
The aim was to ascertain whether thrombocyte MAO (trbc-MAO) activity and depressed state are genetically associated with the MAO locus on chromosome X (Xp11.3 - 11.4). We performed novel sequencing of the MAO locus and validated genetic variants found in public databases prior to constructing haplotypes of the MAO locus in a Swedish sample (N = 573 individuals).
RESULTS
Our results reveal a profound SNP desert in the MAOB gene. Both the MAOA and MAOB genes segregate as two distinct LD blocks. We found a significant association between two MAOA gene haplotypes and reduced trbc-MAO activity, but no association with depressed state.
CONCLUSION
The MAO locus seems to have an effect on trbc-MAO activity in the study population. The findings suggest incomplete X-chromosome inactivation at this locus. It is plausible that a gene-dosage effect can provide some insight into the greater prevalence of depressed state in females than males.
背景
目的是确定血小板单胺氧化酶（trbc-MAO）活性和抑郁状态是否与X染色体（Xp11.3 - 11.4）上的单胺氧化酶基因座存在遗传关联。我们对单胺氧化酶基因座进行了全新测序，并在构建瑞典样本（N = 573人）中单胺氧化酶基因座的单倍型之前，验证了公共数据库中发现的遗传变异。
结果
我们的结果揭示了MAOB基因中存在一个显著的单核苷酸多态性缺失区域。MAOA和MAOB基因均作为两个不同的连锁不平衡（LD）模块进行分离。我们发现MAOA基因的两种单倍型与trbc-MAO活性降低之间存在显著关联，但与抑郁状态无关。
结论
在研究人群中，单胺氧化酶基因座似乎对trbc-MAO活性有影响。研究结果表明该基因座存在不完全的X染色体失活。基因剂量效应有可能为女性抑郁状态患病率高于男性提供一些见解。
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