中国心血管杂志
中國心血管雜誌
중국심혈관잡지
CHINESE JOURNAL OF CARDIOVASOLOGY
2014年
4期
252-256
,共5页
上皮细胞钠通道%基因%单核苷酸多态性%原发性高血压
上皮細胞鈉通道%基因%單覈苷痠多態性%原髮性高血壓
상피세포납통도%기인%단핵감산다태성%원발성고혈압
Epithelial sodium channel%Gene%Single nucleotide polymorphism%Essential hypertension
目的：研究上皮细胞钠离子通道β亚单位基因SCNN1 B羧基端单核苷酸多态性与北京市汉族高血压家系原发性高血压的关系。方法在北京市汉族常住人群中纳入原发性高血压家系108个(433人),分成高血压患者组(229人)、高血压患者第一代和第二代亲属(血压正常)组(118人)和高血压患者配偶(血压正常)组(86人)。检测生化指标及心电图 Sv1+Rv5数值,并分析SCNN1B基因13号外显子及两翼部分单核苷酸多态性。结果在SCNN1B基因13号外显子的两翼部分符合最小等位基因频率≥5%的位点只有两个即rs3743966(A/T)、rs34618783(A/G)。3组间比较,高血压组的 AA/rs3743966基因型频率明显高于其他两组(55.5%比44.9%和32.6%,χ2=13.768,P﹤0.01),TT基因型频率明显低于其他两组(9.6%比15.3%和38.3%,χ2=37.205,P ﹤0.01)。 rs34618783位点基因型频率在3组间比较,差异无统计学意义。 TT/rs3743966纯合子组的收缩压和舒张压水平比AA纯合子组平均低15.69 mmHg和9.14 mmHg,差异有统计学意义(均为P﹤0.01),其他生化指标在3组间比较差异均无统计学意义(均为P﹥0.05)。多因素Logistic回归分析显示,TT/rs3743966基因型进入方程(OR：0.239,95%CI：0.117~0.489,P﹤0.001)。结论 SCNN1B基因rs3743966位点TT基因型可能是北京市汉族高血压家系原发性高血压的保护性因素之一。
目的：研究上皮細胞鈉離子通道β亞單位基因SCNN1 B羧基耑單覈苷痠多態性與北京市漢族高血壓傢繫原髮性高血壓的關繫。方法在北京市漢族常住人群中納入原髮性高血壓傢繫108箇(433人),分成高血壓患者組(229人)、高血壓患者第一代和第二代親屬(血壓正常)組(118人)和高血壓患者配偶(血壓正常)組(86人)。檢測生化指標及心電圖 Sv1+Rv5數值,併分析SCNN1B基因13號外顯子及兩翼部分單覈苷痠多態性。結果在SCNN1B基因13號外顯子的兩翼部分符閤最小等位基因頻率≥5%的位點隻有兩箇即rs3743966(A/T)、rs34618783(A/G)。3組間比較,高血壓組的 AA/rs3743966基因型頻率明顯高于其他兩組(55.5%比44.9%和32.6%,χ2=13.768,P﹤0.01),TT基因型頻率明顯低于其他兩組(9.6%比15.3%和38.3%,χ2=37.205,P ﹤0.01)。 rs34618783位點基因型頻率在3組間比較,差異無統計學意義。 TT/rs3743966純閤子組的收縮壓和舒張壓水平比AA純閤子組平均低15.69 mmHg和9.14 mmHg,差異有統計學意義(均為P﹤0.01),其他生化指標在3組間比較差異均無統計學意義(均為P﹥0.05)。多因素Logistic迴歸分析顯示,TT/rs3743966基因型進入方程(OR：0.239,95%CI：0.117~0.489,P﹤0.001)。結論 SCNN1B基因rs3743966位點TT基因型可能是北京市漢族高血壓傢繫原髮性高血壓的保護性因素之一。
목적：연구상피세포납리자통도β아단위기인SCNN1 B최기단단핵감산다태성여북경시한족고혈압가계원발성고혈압적관계。방법재북경시한족상주인군중납입원발성고혈압가계108개(433인),분성고혈압환자조(229인)、고혈압환자제일대화제이대친속(혈압정상)조(118인)화고혈압환자배우(혈압정상)조(86인)。검측생화지표급심전도 Sv1+Rv5수치,병분석SCNN1B기인13호외현자급량익부분단핵감산다태성。결과재SCNN1B기인13호외현자적량익부분부합최소등위기인빈솔≥5%적위점지유량개즉rs3743966(A/T)、rs34618783(A/G)。3조간비교,고혈압조적 AA/rs3743966기인형빈솔명현고우기타량조(55.5%비44.9%화32.6%,χ2=13.768,P﹤0.01),TT기인형빈솔명현저우기타량조(9.6%비15.3%화38.3%,χ2=37.205,P ﹤0.01)。 rs34618783위점기인형빈솔재3조간비교,차이무통계학의의。 TT/rs3743966순합자조적수축압화서장압수평비AA순합자조평균저15.69 mmHg화9.14 mmHg,차이유통계학의의(균위P﹤0.01),기타생화지표재3조간비교차이균무통계학의의(균위P﹥0.05)。다인소Logistic회귀분석현시,TT/rs3743966기인형진입방정(OR：0.239,95%CI：0.117~0.489,P﹤0.001)。결론 SCNN1B기인rs3743966위점TT기인형가능시북경시한족고혈압가계원발성고혈압적보호성인소지일。
Objective To investigate the relationship between common polymorphisms in the C-terminus of SCNN1B gene encoding the β- subunit of epithelial sodium channel ( ENaC) and essential hypertension ( EH) in Beijing Chinese hypertensive families. Methods A total of 433 subjects from 108 essential hypertension families were recruited. They were divided into three groups: EH probands ( n =229), first-and second-degree relatives (without EH) of probands (n=118) and spouses (without EH) ( n=86). Biochemical indicators, Sv1+Rv5 of ECG and systematic screening of the C-terminus of SCNN1B were performed. Results rs3743966 and rs34618783 satisfied minor allele frequency≥5% were found. Compared with the control subjects, hypertensive patients ( probands) were observed with a significantly higher frequency of AA genotype of rs3743966 (55. 5% vs. 44. 9% and 32. 6%,χ2 =13. 768, P﹤0. 01) and a significantly lower frequency of TT genotype ( 9. 6% vs. 15. 3% and 38. 3%,χ2 =37. 205, P ﹤0. 01) . There were no differences in terms of rs34618783 genotype frequencies among the three groups. Homozygotes for the rarer T allele had on average a 15. 69 mmHg lower SBP and a 9. 14 mmHg lower DBP than homozygotes for the common A allele ( both P ﹤0. 01 ) . In multivariable regression analyses, TT genotype of rs3743966 was found to be an independent protective factor of hypertension (OR:0. 239, 95%CI:0. 117-0. 489, P ﹤0. 001 ) . TT genotype of rs3743966 may be an independent protective factor of hypertension in Beijing Chinese hypertensive families.
