摘要
目的 探讨cAMP反应元件结合蛋白（cyclic adenosine monophosphate response elementbinding protein,CREB1）基因与抑郁症的关联关系.方法 采用聚合酶链反应-限制性片段长度多态性方法检测105个抑郁症核心家系CREB1基因上单核苷酸多态性（single nucleotide polymorphisms,SNP）rs10932201和rs6740584的等位基因与基因型分布情况.进行单位点及单倍型的传递/不平衡检验（transmission disequilibrium test,TDT）.结果 CREB1基因上SNP位点rs10932201和rs6740584与抑郁症均无显著性关联,TDT χ2 值分别为2.700（P=0.1004）和0.458（P=0.4986）,差异均无统计学意义.单倍型TDT分析结果显示由rs10932201和rs6740584构成的单倍型与抑郁症存在显著性关联,差异有统计学意义（总χ2=23.458,df=3,P=0.00003241）.单个单倍型A-C和A-T与抑郁症也均有显著性关联,差异有统计学意义（χ2 值分别为5.405和13.623,P值分别为0.020和0.00022）.结论 CREB1基因上SNP位点rs10932201和rs6740584与抑郁症均无显著性关联,但由这2个SNP位点构成的单倍型与抑郁症存在显著性关联,提示CREB1基因rs10932201-rs6740584单倍型可能在抑郁症的遗传学发病机制中具有重要作用.
Objective To investigate the association between single nucleotide polymorphisms （SNPs） in cyclic adenosine monophosphate response element-binding protein （CREB1） gene and major depressive disorder （MDD）. Methods We recruited 105 parent-offspring trios of Chinese descent, extracted whole blood genomic DNA, and genotyped the SNPs in rs10932201 and rs6740584 loci. Single-marker transmission disequilibrium test （TDT）, pairwise-SNP linkage disequilibrium （LD） and haplotype-based TDT were performed. Results No significant association with MDD was observed for SNPs rs10932201 and rs6740584 （P=0. 1004 and P=0. 4986）. However, there was strong positive association between the rs10932201-rs6740584 haplotype and MDD （P = 0. 00003241）, and both haplotypes of A-C and A-T were significantly associated with MDD （P = 0. 020 and P = 0. 00022）. Conclusion The rs10932201-rs6740584 haplotype of the CREB1 gene may play an important role in the pathogenesis of MDD.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2010年第3期263-266,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（30270729）
关键词
抑郁症
CREB1基因
单核苷酸多态性
单倍型
major depressive disorder
CREB1 gene
single nucleotide polymorphisms
haplotype
