汉族人群磷酸二酯酶-4A基因单核苷酸多态性与双相障碍的关联分析

Association study between phosphodiestierase-4A SNPs and bipolar disorder in the Han Chinese population

目的探讨汉族人群磷酸二酯酶-4A（PDE4A）基因单核苷酸多态性（SNPs）与双相障碍的关系。方法采用病例对照研究，纳入432例双相障碍患者（病例组），健康对照569名（对照组）；采用荧光实时定量PCR技术，分别检测病例组和对照组PDE4A的rsl057738和rs7256672的基因型和等位基因。结果病例组与对照组比较发现，PDE4Arsl057738病例组的基因分布（AA、AC、CC的基因型频率分别为12％、8％、80％，A、c等位基因频率分别为16％、84％）与对照组（AA、AC、CC的基因型频率分布为2％、19％、79％，A、C等位基因频率分别为12％、88％）相比，差异均有统计学意义（P〈0．001）；PDE4Ars7256672病例组的基因分布（GG、GT、TT的基因型频率分别为18％、50％、32％，G、T等位基因频率分别为43％、57％）与对照组（GG、GT、TT的基因型频率分别为20％、48％、32％，G、T等位基因频率分别为45％、55％）相比，基因型和等位基因频率均未发现差异有统计学意义（P=0．620，P=0．446）。结论PDE4Arsl051738与双相障碍存在关联，可能是具有标志性意义的功能位点。

Objective To explore whether there is an association between the single nucleotide polymorphisms （SNPs） of phosphodiestierase-4A （ PDE4A ） and bipolar disorder in Han population. Methods A casecontrol association study was done in this study, 432 bipolar disorder patients （patients group ） , and 569 age and gender-matched controls（ control group）were recruited.Real-time fluorescent quantitative polymerase chain reaction （PCR） was used to detect genotypes and alleles distributive frequency of rs1051738 and rs7256672 of 432 bipolar disorder patients and 569 normal people.Results The PDE4A rs1051738 genotypes and alleles frequency distribution between patients group （ AA, AC, CC genotypes ： 12%, 8%, 80%, A, C alleles ： 16%, 84% ） and control group （ AA, AC, CC genotypes ： 2%, 19%, 79%, A, C alleles ： 12%, 88% ） showed statistically significance （P〈 0.01 ）. The frequency of PDE4A rs7256672 genotypes and alleles distribution between patients group（ GG, GT, TF genotypes： 18%, 50%, 32%, G, T alleles ： 43%, 57% ） and control group （ GG, GT, TT genotypes ： 20%, 48%, 32%, G, T alleles：45% ,55%）showed no significant difference（P=0.620, P= 0.446） .Conclusion The PDE4A rs1051738 polymorphism may be responsible for an increase in susceptibility to bipolar disorder,indicating that it maybe a functional site with marked significance to bipolar disorder.