分子诊断与治疗杂志
分子診斷與治療雜誌
분자진단여치료잡지
JOURNAL OF MOLECULAR DIAGNOSIS AND THERAPY
2013年
5期
301-305
,共5页
耿启彬%李媛媛%李红%杨学习
耿啟彬%李媛媛%李紅%楊學習
경계빈%리원원%리홍%양학습
高血压%Beta-adducin(Add2)基因%单核苷酸多态性%基质辅助激光解吸电离飞行时间质谱%遗传易感性
高血壓%Beta-adducin(Add2)基因%單覈苷痠多態性%基質輔助激光解吸電離飛行時間質譜%遺傳易感性
고혈압%Beta-adducin(Add2)기인%단핵감산다태성%기질보조격광해흡전리비행시간질보%유전역감성
Hypertension%Beta-adducin (Add2)%Single nucleotide polymorphism%MALDI-TOF-MS%Genetic susceptibility
目的探讨Beta-adducin（Add2）基因的rs3755351单核苷酸多态性与福建和广东人群中高血压发病的相关性。方法应用MassARRAY?-IPLEX技术和基质辅助激光解吸电离飞行时间质谱平台（Matrix-assisted laser desorption/ionization time of flight mass spectrometry，MALDI-TOF-MS）对广东和福建940例高血压患者和944名健康查体者对照进行Add2基因rs3755351位点的基因分型。用χ2检验统计分析病例组和对照组基因型和等位基因的频率；采用非条件Logistic回归分析，计算比值比（OR）和95%CI，评价多态性位点与高血压遗传易感性的相关性。结果 Add2基因rs3755351多态位点有AA， AC和CC三种基因型，在隐性模型中，Add2基因的rs3755351多态位点AA、AC-CC基因型在福建高血压人群中的分布频率为10.5%和89.5%，与对照组（14.2%、85.8%）相比差异有统计学意义（P<0.05），与AC或CC基因型相比，携带AA基因型能显著降低患高血压的发病危险（OR=0.65，95%CI：0.43~0.99， P=0.044）；rs3755351的AA、AC和CC基因型在广东高血压人群中的分布频率为15.1%、53.0%和31.8%，与对照组（12.4%、52.4%和35.2%）相比差异无统计学意义（P>0.05）。结论 Add2基因的rs3755351多态位点与福建人群的高血压遗传易感性相关，与AC或CC基因型相比，携带AA基因型能显著降低患高血压的发病危险；rs3755351在广东人群中未发现与高血压的遗传易感性相关。
目的探討Beta-adducin（Add2）基因的rs3755351單覈苷痠多態性與福建和廣東人群中高血壓髮病的相關性。方法應用MassARRAY?-IPLEX技術和基質輔助激光解吸電離飛行時間質譜平檯（Matrix-assisted laser desorption/ionization time of flight mass spectrometry，MALDI-TOF-MS）對廣東和福建940例高血壓患者和944名健康查體者對照進行Add2基因rs3755351位點的基因分型。用χ2檢驗統計分析病例組和對照組基因型和等位基因的頻率；採用非條件Logistic迴歸分析，計算比值比（OR）和95%CI，評價多態性位點與高血壓遺傳易感性的相關性。結果 Add2基因rs3755351多態位點有AA， AC和CC三種基因型，在隱性模型中，Add2基因的rs3755351多態位點AA、AC-CC基因型在福建高血壓人群中的分佈頻率為10.5%和89.5%，與對照組（14.2%、85.8%）相比差異有統計學意義（P<0.05），與AC或CC基因型相比，攜帶AA基因型能顯著降低患高血壓的髮病危險（OR=0.65，95%CI：0.43~0.99， P=0.044）；rs3755351的AA、AC和CC基因型在廣東高血壓人群中的分佈頻率為15.1%、53.0%和31.8%，與對照組（12.4%、52.4%和35.2%）相比差異無統計學意義（P>0.05）。結論 Add2基因的rs3755351多態位點與福建人群的高血壓遺傳易感性相關，與AC或CC基因型相比，攜帶AA基因型能顯著降低患高血壓的髮病危險；rs3755351在廣東人群中未髮現與高血壓的遺傳易感性相關。
목적탐토Beta-adducin（Add2）기인적rs3755351단핵감산다태성여복건화엄동인군중고혈압발병적상관성。방법응용MassARRAY?-IPLEX기술화기질보조격광해흡전리비행시간질보평태（Matrix-assisted laser desorption/ionization time of flight mass spectrometry，MALDI-TOF-MS）대엄동화복건940례고혈압환자화944명건강사체자대조진행Add2기인rs3755351위점적기인분형。용χ2검험통계분석병례조화대조조기인형화등위기인적빈솔；채용비조건Logistic회귀분석，계산비치비（OR）화95%CI，평개다태성위점여고혈압유전역감성적상관성。결과 Add2기인rs3755351다태위점유AA， AC화CC삼충기인형，재은성모형중，Add2기인적rs3755351다태위점AA、AC-CC기인형재복건고혈압인군중적분포빈솔위10.5%화89.5%，여대조조（14.2%、85.8%）상비차이유통계학의의（P<0.05），여AC혹CC기인형상비，휴대AA기인형능현저강저환고혈압적발병위험（OR=0.65，95%CI：0.43~0.99， P=0.044）；rs3755351적AA、AC화CC기인형재엄동고혈압인군중적분포빈솔위15.1%、53.0%화31.8%，여대조조（12.4%、52.4%화35.2%）상비차이무통계학의의（P>0.05）。결론 Add2기인적rs3755351다태위점여복건인군적고혈압유전역감성상관，여AC혹CC기인형상비，휴대AA기인형능현저강저환고혈압적발병위험；rs3755351재엄동인군중미발현여고혈압적유전역감성상관。
Objective To determine the association of Add2 rs3755351 with the genetic susceptibility of hypertension in Chinese population from Fujian and Guangdong province. Methods Add2 rs3755351 was genotyped by MassARRAY? SNP genotyping system in 940 patients with hypertension and 944 controls, which collected in Guangdong and Fujian from 2010~2012. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95%confidence interval (95%CI). Results Genotypes AA, AC and CC in the Add2 rs3755351 1ocus were detected. In Fujian population, the frequencies of genotypes AA, AC-CC were 10.5%, 89.5%in hypertension patients, which were significantly different from that in controls (14.2%, 85.8%), P<0.05. Compared with homozygote and heterozygote variant forms (AA and AC), AA genotype can significantly reduce the risk of developing hypertension (OR=0.65, 95%CI:0.43~0.99, P=0.044). In Guangdong population, the frequencies of genotypes AA, AC, CC were 15.1%, 53.0%, 31.8% in hypertension patients, which were not significantly different from that in controls (12.4%, 52.4%, and 35.2%), P>0.05. Conclusion There was an significant association between rs3755351 and the susceptibility of hypertension in Fujian population. Compared with rs3755351 AC or CC genotype, carrying the AA genotype can significantly reduce the risk of high blood pressure. While no association were found between rs3755351 and the susceptibility of hypertension in Guangdong population .
