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Genetic variants in the ADD1 and GNB3 genes and bloodpressure response to potassium supplementation

Frontiers of Medicine 2010年第1期4卷 59-66页

作者： Dai-Hai YU De-Pei LIU Lai-Yuan WANG Jing CHeN cashell e.jaquish Dabeeru C.RAO James e.HIXSON Jian-Feng HUANG Chung-Shiuan CHeN Charles GU Ji-Chun CHeN Jie CAO Shu-Feng CHeN Paul K.WHeLTON Jiang He Dong-Feng GU Department of evidence-based Medicine and Population Genetics Cardiovascular Institute and Fu Wai HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100005China Chinese National Human Genome Center at Beijing Beijing 100176China Department of epidemiology Tulane University School of Public Health and Tropical MedicineNew OrleansLA 70112USA Department of Medicine Tulane University School of MedicineNew OrleansLA 70112USA National Heart Lungand Blood InstituteNational Institute of HealthBethesdaMD 20892USA Washington University in St.Louis School of Medicine St.LouisMO 63110USA University of Texas School of Public Health HoustonTX 77030USA Loyola University Medical Center MaywoodIL 60153USA

Dietary potassium-supplementation has been associated with a decreased risk of hypertension and other cardiovascular ***,blood pressure(BP)responses to potassium supplementation vary among *** study was designed to examine the association between 12 single nucleotide polymorphisms(SNPs)in the adducin 1 alpha(ADD1)and guanine nucleotide binding protein(G protein)beta polypeptide 3(GNB3)genes and systolic BP(SBP),diastolic BP(DBP),and mean arterial pressure(MAP)responses to *** conducted a 7-day high-sodium intervention(307.8 mmol sodium/day)followed by a 7-day high-sodium with potassium-supplementation(60 mmol potassium/day)among 1906 Han Chinese participants from rural north *** measurements were obtained at the end of each intervention period using a random-zero *** identiﬁed signiﬁcant associations between ADD1 variant rs17833172 and SBP,DBP,and MAP responses to potassium-supplementation(all Pemained signiﬁcant after adjustment for multiple *** participants that were heterozygous or homozygous for the G allele of this marker,SBP,DBP,and MAP response to potassium-supplementation were–3.52(–3.82,–3.21),–1.41(–1.66,–1.15)and–2.12(–2.37,–1.87),respectively,as compared to the corresponding responses of 1.99(0.25,3.73),–0.65(–0.10,–0.21),and–0.23(–0.37,0.83),respectively,for those who were homozygous for A *** addition,participants with at least one copy of the G allele of rs12503220 of the ADD1 gene had significantly increased DBP and MAP response to potassium-supplementation(P=0.0041 and 0.01,respectively),which was also significant after correction for multiple *** and MAP responses to potassiumsupplementation were–1.36(–1.63,–1.10)and–2.07(–2.32,–1.82)for those with at least G allele compared to corresponding responses of 0.86(–0.68,2.40)and–0.45(–1.74,0.84)for those who were homozygous for A *** summary,our study identified novel associations between

关键词： blood pressure genetics polymorphism dietary potassium potassium sensitivity adducin 1 alpha(ADD1) guanine nucleotide binding protein beta polypeptide 3(GNB3)

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Genome-Wide Linkage and Positional Association Analyses Identify Associations of Novel AFF3 and NTM Genes with Triglycerides:The GenSalt Study

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Journal of Genetics and Genomics 2015年第3期42卷 107-117页

作者： Changwei Li Lydia A.L.Bazzano Dabeeru C.Rao James e.Hixson Jiang He Dongfeng Gu Charles C.Gu Lawrence C.Shimmin cashell e.jaquish Karen Schwander De-Pei Liu Jianfeng Huang Fanghong Lu Jie Cao Shen Chong Xiangfeng Lu Tanika N.Kelly Department of epidemiology Tulane University School of Public Health and Tropical Medicine Department of Medicine Tulane University School of Medicine Division of Biostatistics Washington University School of Medicine Department of epidemiology Human Genetics and Environmental SciencesUniversity of Texas School of Public Health State Key Laboratory of Cardiovascular Disease Fuwai HospitalNational Center of Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical College Division of Prevention and Population Sciences National HeartLungBlood Institute National Laboratory of Medical Molecular Biology Institute of Basic Medical SciencesChinese Academy of Medical Sciences and Peking Union Medical College Institute of Basic Medicine Shandong Academy of Medical Sciences Department of epidemiology and Biostatistics Nanjing Medical University School of Public Health

We conducted a genome-wide linkage scan and positional association study to identify genes and variants influencing blood lipid levels among participants of the Genetic epidemiology Network of Salt-Sensitivity （GenSalt） study. The GenSalt study was conducted among 1906 participants from 633 Han Chinese families. Lipids were measured from overnight fasting blood samples using standard methods. Multipoint quantitative trait genome-wide linkage scans were performed on the high-density lipoprotein, low-density lipoprotein, and log- transformed triglyceride phenotypes. Using dense panels of single nucleotide polymorphisms （SNPs）, single-marker and gene-based association analyses were conducted to follow-up on promising linkage signals. Additive associations between each SNP and lipid phenotypes were tested using mixed linear regression models. Gene-based analyses were performed by combining P-values from single- marker analyses within each gene using the truncated product method （TPM）. Significant associations were assessed for replication among 777 Asian participants of the Multi-ethnic Study of Atherosclerosis （MeSA）. Bonferroni correction was used to adjust for multiple testing. In the GenSalt study, suggestive linkage signals were identified at 2p11.2-2q12.1 [maximum multipoint LOD score （MML） = 2.18 at 2q11.2] and t lq24.3-11q25 （MML = 2.29 at 11q25） for the log-transformed triglyceride phenotype. Follow-up analyses of these two regions revealed gene-based associations of charged multivesicular body protein 3 （CHMP3）, ring finger protein 103 （RNF103）, AF4/FMR2 family, member 3 （AFF3）, and neurotrirnin （NTM） with triglycerides （P = 4 ×10^-4, 1.00 × 10^-5, 2.00 × 10^-5, and 1.00 × 10^-7, respectively）. Both the AFF3 and NTM triglyceride associations were replicated among MeSA study participants（P = 1.00 × 10^-7 and 8.00× 10^-5, respectively）. Furthermore, NTM explained the linkage signal on chromosome 11, In conclusion, we identified novel genes associated with lipid

关键词： Lipids Linkage analysis Positional association analysis Gene-based analysis

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内皮系统基因与血压改变和高血压发病的关系:盐敏感遗传流行病学研究

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中华高血压杂志 2015年第10期23卷 998-998页

作者： Fangchao Liu Jiang He Dongfeng Gu Dabeeru C.Rao Jianfeng Huang James e.Hixson cashell e.jaquish Jichun Chen Changwei Li Xueli Yang Jianxin Li Treva K.Rice Lawrence C.Shimmin Tanika N.Kelly

研究者在一个纵向家庭研究中以单标记和新基因为基础的方法探讨内皮系统基因与血压改变和高血压发病率的关系。方法：盐敏感性的遗传流行病学随访研究共纳入633个汉族家庭的1768位成员。使用随机零点血压计,获取基线和随访调查的共9次... 详细信息

研究者在一个纵向家庭研究中以单标记和新基因为基础的方法探讨内皮系统基因与血压改变和高血压发病率的关系。方法：盐敏感性的遗传流行病学随访研究共纳入633个汉族家庭的1768位成员。使用随机零点血压计,获取基线和随访调查的共9次血压值。

关键词：遗传流行病学内皮系统盐敏感性高血压新基因发病率随访研究随访调查

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中国人基因变异和体力活动的相互作用与血压相关

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中华高血压杂志 2012年第2期20卷 198-198页

作者： May e.Montasser Lawrence C.Shimmin Charles Gu Tanika N.Kelly cashell e.jaquish Treva Rice Dabeeru C.Rao Paul K.Whelton James e.Hixson 罗冬梅叶鹏

维持血压动态平衡涉及遗传和非遗传因素之间复杂的相互作用，这对明确影响血压和高血压的遗传因素有巨大的挑战。该研究选取中国农村遗传基因相对均一的一人群队列，研究基因变异与体力活动相互作用对血压的影响。方法：根据是否进行体... 详细信息

维持血压动态平衡涉及遗传和非遗传因素之间复杂的相互作用，这对明确影响血压和高血压的遗传因素有巨大的挑战。该研究选取中国农村遗传基因相对均一的一人群队列，研究基因变异与体力活动相互作用对血压的影响。方法：根据是否进行体力活动将3142名入选者进行分组（体力活动组与非体力活动组），应用广义估计方程分析收缩压和舒张压与血压调控通路中24个基因表型改变的关系[包括196单核苷酸多态性（single-nucleotide polymorphisms，SNP）]。

关键词：体力活动血压动态相互作用基因变异中国农村非遗传因素单核苷酸多态性广义估计方程

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