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目的探讨5-羟色胺2A、2C 受体基因多态性与阻塞性睡眠呼吸暂停低通气综合征(OSAHS)的相关性,寻找与 OSAHS 发生有关的基因型。方法采用聚合酶链反应-限制性片段长度多态性方法,对65例 OSAHS 患者(OSAHS组)及54例健康对照组5-羟色胺2A 受体 T102C、A1438G和2C 受体 G796C 位点的基因多态性进行检测,比较两组基因型分布及等位基因频率的差异,分析基因型与 OSAHS 患者多导睡眠图参数及肥胖指标的相关性。采用方差分析、Fisher 检验、t 检验、X~2检验进行统计学分析。结果两组5-羟色胺2A 受体 T102C 和2C 受体 G796C 位点的基因型分布及等位基因频率无明显差别;OSAHS 组5-羟色胺2A 受体 T102C 位点 TT、TC、CC 基因型和 T、C 等位基因频率与健康对照组无明显差别;OSAHS 组5-羟色胺2C 受体 G796C 位点男性 G、C 半合子型,女性GG、GC 基因型和 G、C 等位基因频率与健康对照组无明显差别;OSAHS组5-羟色胺2A 受体 A1438G位点的 AA 基因型和 A 等位基因频率[63.1%(41/65)、74.6%(97/130)]明显高于健康对照组[27.8%(15/54)、40.7%(44/108)];OSAHS 组 AA 型的阻塞性呼吸暂停低通气指数[(40±9)次/h]明显高于 AG、GG 型[(25±9)次/h、(20±11)次/h],AA 型的最长呼吸暂停时间[(94±10)s]明显长于 AG、GG 型[(88±9)s、(75±12)s],AA 型最低血氧饱和度[(69±12)%]明显低于 AG、GG 型[(78±10)%、(80±9)%],3种基因型的体重指数、颈围和腰臀比无明显差别。结论 5-羟色胺2A受体 T102C 和2C 受体 G796C 位点的基因多态性可能与汉族人群 OSAHS 的发病无关,5-羟色胺2A受体 A1438G 位点的 AA 基因型可能与汉族人群 OSAHS 的发病有关,A 等位基因可能是易感基因。
Objective To investigate the association between serotonin 2A and 2C receptor gene polymorphism and obstructive sleep apnea-hypopnea syndrome (OSAHS) and to find the genotypes associated with OSAHS. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the polymorphisms of serotonin 2A receptor T102C, A1438G and 2C receptor G796C in OSAHS patients (group OSAHS) and 54 healthy controls The differences of genotype distribution and allele frequencies between the two groups were compared. The correlation between genotypes and OSAHS polysomnography parameters and obesity indices was analyzed. ANOVA, Fisher test, t test, X ~ 2 test were used for statistical analysis. Results There was no significant difference in the genotype distribution and allele frequency between the serotonin 2A receptor T102C and 2C receptor G796C loci in the two groups. The TT, TC, CC genotypes of serotonin 2A receptor T102C in OSAHS group and T , The frequency of C allele was not significantly different from that in healthy controls. The frequency of G, C haplotypes, GG genotypes and G, C alleles in OSAHS group at G796C site of serotonin 2C receptor was significantly higher than that in healthy controls There was no significant difference between the two groups (P> 0.05). The frequencies of AA genotype and A allele in OSAHS serotonin 2A receptor A1438G site (63.1% (41/65), 74.6% (97/130)] were significantly higher than those in healthy controls [ The obstructive apnea-hypopnea index of OSAHS group [(40 ± 9) times / h] was significantly higher than that of AG and GG-type [(25 ± 2) ± 27.8%, 40.7% (94 ± 10) s] was significantly longer than that of AG, GG type [(88 ± 9) s, (75 ± 12) / g, (20 ± 11) ) s]. The minimum oxygen saturation of type AA [(69 ± 12)%] was significantly lower than that of AG and GG [(78 ± 10)%, (80 ± 9)%] Neck circumference and waist-hip ratio no significant difference. Conclusions The gene polymorphisms of T102C and 2C receptor G796C of serotonin 2A receptor may not be related to OSAHS in Han population. The AA genotype of A1438G site of serotonin 2A receptor may be related to the pathogenesis of OSAHS in Han population , A allele may be a susceptibility gene.