5-羟色胺2A受体和腺苷酸环化酶相关基因位点单核苷酸多态性与双相障碍的关联分析

Correlation of serotonin 2A receptor and adenylate cyclase single gene polymorphisms and bipolar disorder

目的 探讨5-羟色胺2A（5-HT2A）受体rs6311、rs6305及腺苷酸环化酶（AC） rs2230739单核苷酸多态性（single gene polymorphisms,SNPs）与双相障碍发病的关系.方法 采用病例对照研究方法,选取了152例双相障碍患者（病例组）和186例性别、年龄相匹配的健康对照者（对照组）作为研究的对象,采用连接酶检测反应（ligase detection reaction,LDR）技术,分别测定病例组和对照组rs6311、rs6305及rs2230739的基因型和等位基因,验证各基因型及等位基因的分布频度与双相障碍的发病是否相关.结果 病例组与对照组比较发现,病例组5-HT2A受体rs6311基因分布（11、12、22基因型频率分别为21％、61％、18％,1、2等位基因频率分别为51％、49％）与对照组（11、12、22基因型频率分别为44％、45％、21％,1、2等位基因频率分别为66％、34％）相比差异均有统计学意义（P＜0.01）,但未发现5-HT2A受体rs6305在病例组及对照组中存在多态性.同时,病例组rs2230739的基因分布（11、12、22基因型频率分别为20％、43％、37％,1、2等位基因频率分别为42％、58％）与对照组（11、12、22基因型频率分别为17％、48％、35％,1、2等位基因频率分别为41％、59％）相比,差异无统计学意义（P=0.661,P=0.846）.结论 5-HT2A基因多态性与双相障碍的发病有关,推测rs6311可能是双相障碍有标志性意义的位点之一.

Objective To explore whether there is association between the polymorphisms of serotonin 2A receptor（ 5-H＇F2A ） rs6311,rs6305 and adenylate cyclase rs2230739 with episode of bipolar disorder.Methods A case-control association study was clone in this study, 152 bipolar disorder patients（ patients group）, and 187 age- and gender-matched controls （control group） were recruited. Ligase detection reaction（LDR） was used to detect the distributive fi＇equency of rs6311, rs6305 and rs2230739 of 152 bipolar disorder patients and 187 normal people. Results The 5-HT2, receptor rs6311 genotypes and alleles frequency distribution between patients group（ 11,12, 22 genotypes ：21% ,61%, 18% ; 1,2 alleles：51% ,49% ） and control group（ 11,12,22 genotypes ：44% ,45%, 11% ; 1,2 alleles：66% ,34%） showed statistically significance （P〈0.01）. There were no difterences of 5-HTzA receptor rs6305 genotypes and alleles between patients group and control group. The frequency of rs2230739 genotypes and alleles distribution between patients group （ 11,12,22 genotypes ： 20%, 43%, 37% ; 1,2 alleles ： 42%, 58% ） and control group（ 11,12,22 genotypes： 17%,48%,35% ;1,2 alleles：41%,59%） showed no significant difference（P= 0.661, P= 0.846）.Conclusion The 5-HTzA receptor rs6311 polymorphism may be responsible for an increase in susceptibility to bipolar disorder, indicating that it maybe an marker to bipolar disorder.