中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
5期
562-567
,共6页
管立学%高丽%高颖%李海波%于凤飞%杜欣莹%江洪
管立學%高麗%高穎%李海波%于鳳飛%杜訢瑩%江洪
관립학%고려%고영%리해파%우봉비%두흔형%강홍
子痫前期%瘦素%瘦素受体%遗传多态性
子癇前期%瘦素%瘦素受體%遺傳多態性
자간전기%수소%수소수체%유전다태성
pre-eclampsia%leptin%leptin receptor%genetic polymorphism
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-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病前期的风险较AA型和A等位基因个体分别增加2.04倍(95％CI: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)LEPR G1019A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),携带者发生重度子病前期的风险增加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基因G1019A、A223G多态性与重度子痫前期发病可能存在关联,血清瘦素水平与LEPR基因G1019A和A223G多态性无关；G1019A GA基因型和“1019GA+ 223GG”联合基因型可能是重度子痫前期的易感基因型.
目的 探討血清瘦素水平和瘦素受體基因(leptin receptor gene,LEPR)Pro1019Pro (G1019A)和Gln223Arg(A223G)多態性與重度子癇前期髮病的相關性.方法 採用聚閤酶鏈反應-限製性片段長度多態性方法檢測207例重度子癇前期和252名正常妊娠孕婦(對照組)LEPR基因G1019A和A223G多態性；ELISA法檢測血清瘦素水平.結果 (1)重度子癇前期組患者血清瘦素水平顯著高于正常對照組孕婦,新生兒體重明顯低于對照組,早產兒髮生率顯著高于對照組(P＜0.01).(2) LEPR基因G1019A多態性GA基因型和G等位基因頻率重度子癇前期組(33.8％和20.3％)顯著高于對照組(19.8％和15.1％)(P＜0.01),攜帶GA型和G等位基因孕婦髮生重度子病前期的風險較AA型和A等位基因箇體分彆增加2.04倍(95％CI:0.77～5.42)和1.43倍(95％CI:1.02～2.01).(3)LEPR基因A223G多態性AG基因型和A等位基因頻率分佈重度子癇前期組(19.3％和12.6％)明顯低于對照組(34.5％和19.2％)(P＜0.01),攜帶AG型和A等位基因孕婦髮生重度子癇前期的風險較GG型和G等位基因箇體分彆降低0.46倍(95％CI:0.30～0.71)和0.60倍(95％ CI:0.42～0.87).(4)LEPR G1019A和A223G多態性“1019AA+223AG”聯閤基因型頻率重度子癇組(6.8％)顯著低于對照組(24.6％)(P＜0.01),攜帶者髮生重度子癇前期的風險較其它聯閤基因型箇體低0.22倍,95％CI:0.12～0.39；而“1019GA+223GG”聯閤基因型頻率重度子癇前期組(22.2％)顯著高于對照組(11.9％)(P＜0.05),攜帶者髮生重度子病前期的風險增加2.10倍,95％CI:0.78～3.45.(5)LEPR基因G1019A和A223G多態性各基因型之間收縮壓、舒張壓、體重指數和血清瘦素水平比較差異均無統計學意義(P＞0.05).結論 血清中高濃度的瘦素水平和LEPR基因G1019A、A223G多態性與重度子癇前期髮病可能存在關聯,血清瘦素水平與LEPR基因G1019A和A223G多態性無關；G1019A GA基因型和“1019GA+ 223GG”聯閤基因型可能是重度子癇前期的易感基因型.
목적 탐토혈청수소수평화수소수체기인(leptin receptor gene,LEPR)Pro1019Pro (G1019A)화Gln223Arg(A223G)다태성여중도자간전기발병적상관성.방법 채용취합매련반응-한제성편단장도다태성방법검측207례중도자간전기화252명정상임신잉부(대조조)LEPR기인G1019A화A223G다태성；ELISA법검측혈청수소수평.결과 (1)중도자간전기조환자혈청수소수평현저고우정상대조조잉부,신생인체중명현저우대조조,조산인발생솔현저고우대조조(P＜0.01).(2) LEPR기인G1019A다태성GA기인형화G등위기인빈솔중도자간전기조(33.8％화20.3％)현저고우대조조(19.8％화15.1％)(P＜0.01),휴대GA형화G등위기인잉부발생중도자병전기적풍험교AA형화A등위기인개체분별증가2.04배(95％CI:0.77～5.42)화1.43배(95％CI:1.02～2.01).(3)LEPR기인A223G다태성AG기인형화A등위기인빈솔분포중도자간전기조(19.3％화12.6％)명현저우대조조(34.5％화19.2％)(P＜0.01),휴대AG형화A등위기인잉부발생중도자간전기적풍험교GG형화G등위기인개체분별강저0.46배(95％CI:0.30～0.71)화0.60배(95％ CI:0.42～0.87).(4)LEPR G1019A화A223G다태성“1019AA+223AG”연합기인형빈솔중도자간조(6.8％)현저저우대조조(24.6％)(P＜0.01),휴대자발생중도자간전기적풍험교기타연합기인형개체저0.22배,95％CI:0.12～0.39；이“1019GA+223GG”연합기인형빈솔중도자간전기조(22.2％)현저고우대조조(11.9％)(P＜0.05),휴대자발생중도자병전기적풍험증가2.10배,95％CI:0.78～3.45.(5)LEPR기인G1019A화A223G다태성각기인형지간수축압、서장압、체중지수화혈청수소수평비교차이균무통계학의의(P＞0.05).결론 혈청중고농도적수소수평화LEPR기인G1019A、A223G다태성여중도자간전기발병가능존재관련,혈청수소수평여LEPR기인G1019A화A223G다태성무관；G1019A GA기인형화“1019GA+ 223GG”연합기인형가능시중도자간전기적역감기인형.
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 (34.5％ and 19.2％) (P＜0.01),resulting in an OR of 0.46 (95％CI:0.30-0.71) and 0.60 (95％CI:0.42-0.87) 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 SPE group (22.2％) than in controls (11.9％) (P＜0.05),resulting in an OR of 2.10(95％CI:0.78-3.45) to develop severe pre-eclampsia.(5) No significant differences were found in SBP,DBP,BMI and serum leptin levels in subjects with different genotypes in the two groups (P＞0.05).Conclusion Elevated serum leptin level and LEPR gene G1019A and A223G polymorphisms might play a role in severe pre-eclampsia,while the level of serum leptin was not associated with genotypes of LEPR gene G1019A and A223G polymorphisms.The genotypes GA and “1019GA+223GG” of G1019A may be genetic susceptibility factors to severe pre-eclampsia.
