瘦素及瘦素受体基因多态性与重度子痫前期发病的相关性  

Association of leptin level and leptin receptor gene polymorphisms with susceptibility to severe pre-eclampsia

作　　者：管立学[1] 高丽[2] 高颖[3] 李海波[1] 于凤飞[1] 杜欣莹[4] 江洪[4] 

机构地区：[1]山东省潍坊市人民医院干细胞实验室,261041 [2]山东省潍坊市人民医院肿瘤内科,261041 [3]山东省潍坊市人民医院检验科,261041 [4]山东省潍坊市人民医院产科,261041

出　　处：《中华医学遗传学杂志》2011年第5期562-567,共6页Chinese Journal of Medical Genetics

基　　金：潍坊市科技发展计划项目（20070214）

摘　　要：目的探讨血清瘦素水平和瘦素受体基因（leptin receptor gene，LEPR）Pro1019Pro（G1019A）和Gln223Arg（A223G）多态性与重度子痫前期发病的相关性。方法采用聚合酶链反应一限制性片段长度多态性方法检测207例重度子痫前期和252名正常妊娠孕妇（对照组）LEPR基因G1019A和A223G多态性；ELISA法检测血清瘦素水平。结果（1）重度子痫前期组患者血清瘦素水平显著高于正常对照组孕妇，新生儿体重明显低于对照组，早产儿发生率显著高于对照组（P〈0．01）。（2）LEPR基因G1019A多态性GA基因型和G等位基因频率重度子痫前期组（33．8％和20．3％）显著高于对照组（19．8％和15．1％）（P〈0．01），携带GA型和G等位基因孕妇发生重度子痫前期的风险较AA型和A等位基因个体分别增加2．04倍（95oACI：0．77～5．42）和1．43倍（95％CI：1．02～2．01）。（3）LEPR基因A223G多态性AG基因型和A等位基因频率分布重度子痫前期组（19．3％和12．6％）明显低于对照组（34．5％和19．2％）（P〈0．01），携带AG型和A等位基因孕妇发生重度子痫前期的风险较GG型和G等位基因个体分别降低0．46倍（95％CI：0．30～0．71）和0．60倍（95％CI：0．42～0．87）。（4）LEPRG1019A和A223G多态性“1019AA＋223AG”联合基因型频率重度子痫组（6．8％）显著低于对照组（24．6％）（P〈0．01），携带者发生重度子痫前期的风险较其它联合基因型个体低0．22倍，95％CI：0．12～0．39；而“1019GA＋223GG”联合基因型频率重度子痫前期组（22．2％）显著高于对照组（11．9％）（P％0．05），携带者发生重度子痫前期的风险增加2．10倍，95％CI：0．78～3．45。（5）LEPR基因G1019A和A223G多态性各基因型之间收缩压、舒张压、体重指数和血清瘦素水平比较差异均无统计学意义（P〉0．05）。结论血清中高浓度的瘦素水平和LEPR基Objective To evaluate the association of serum leptin concentrations and polymorphisms of G1019A and A223G of leptin receptor gene （LEPR） with severe pre-eclampsia. Methods A case-control study was carried out in 207 patients with severe pre-eclampsia （SPE group） and 252 healthy pregnant women （control group） during the third trimester of pregnancy. The serum leptin was determined by enzyme-linked immunosorbent assay. The polymorphisms of LEPR gene G1019A and A223G were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP analysis. Miettinen＇s test was used to estimate the odds ratios （OR） and 95% confidence intervals （CI）. Results （1） In severe pre-eclampsia group, serum leptin levels and rate of premature infant birth were significantly higher than that in normal pregnant women, and birth weight was lower than that in controls （P〈0. 01）. （2） The frequencies of GA genotype and G allele for LEPR gene G1019A in SPE group （33.8% and 20.3%） were markedly higher than that in controls （19.8% and 15.1%） （P〈0.01）, and the carriers of GA genotype and G allele were more frequent in SPE group than in control group, resulting in an OR 2.04= （95%CI：0.77- 5.42） and 1. 43 （95%CI： 1. 02-2. 01） to develop severe pre-eclampsia, compared with carriers of AA genotype and A allele. （3） AG genotype and A allele frequencies of LEPR gene A223G in SPE group （19.3% and 12. 6%） were significantly lower than that in controls （34. 50./oo and 19. 2%） （P〈0. 01）, resulting in an OR of 0. 46 （95%CI：0. 30-0. 71） and 0. 60 （95% CI： 0. 4=2-0. 87） to develop severe preeclampsia, compared with subjects with GG genotype and G allele. （4） The ＂1019AA＋223AG＂ genotype frequency was significantly lower in SPE group （6.8 %） than in controls （24.6 % ） （P〈0.01）, resulting in an OR of 0.22 （95%CI：0. 12-0.39） to develop severe pre-eclampsia, while the ＂1019GA＋223GG＂ was significantly higher in SP

关 键 词：子痫前期 瘦素 瘦素受体 遗传多态性 

分 类 号：R714.244[医药卫生—妇产科学]