Association of SLC34A2 variation and sodium-lithium countertransport activity in humans and baboons.
Association of SLC34A2 variation and sodium-lithium countertransport activity in humans and baboons.
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SLC34A2 变异与人类和狒狒中钠-锂反转运活动的关联。
DOI：
10.1038/ajh.2008.355
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发表时间：
2009
影响因子：
3.2
通讯作者：
Ferrell,RobertE
中科院分区：
文献类型：
--
作者：
Zheng,Xiaojing;Kammerer,CandaceM;Cox,LauraA;Morrison,Alanna;Turner,StephenT;Ferrell,RobertE
研究背景钠-锂反向转运（SLC）活性是原发性高血压的一种中间表型，与狒狒5号染色体的一个区域有关，该区域与人类染色体4p同源。人SLC 34 A2基因位于染色体4p15.1-p15.3，是SLC的位置候选基因。本研究的具体目的是确定狒狒和人类的SLC 34 A2基因的遗传变异，并研究这些多态性与SLC活性和血压的关系。方法通过对24只狒狒创始人和94名无关个体的SLC 34 A2基因进行测序，确定单核苷酸多态性（SNP）。对来自252个欧洲混合血统家系的1,856名个体进行了SLC 34 A2中所有标签SNPs的基因分型。对11个家系的634只狒狒进行了3个单核苷酸多态性的基因分型。（rs 12501856）的单倍型2虽然未通过多重比较校正，但其等位基因C在多重比较校正后显示与SLC有较强的关联性（P= 0.0037）。该单倍型也与舒张压和收缩压轻微相关。这一发现在狒狒中得到证实，其中在SLC和狒狒SNPAsn 136 Asn之间检测到高度显著的关联（P= 0.0001）。然而，相关的SNP不能解释狒狒5号染色体上的连锁信号。结论在两个不同物种中的一致结果表明SLC 34 A2与SLC活性和血压相关。American Journal of Hypertension 2009; doi：10.1038/ajh.2008.355
BackgroundSodium–lithium countertransport (SLC) activity, an intermediate phenotype of essential hypertension, has been linked to a region of baboon chromosome 5, homologous to human chromosome 4p. HumanSLC34A2, located at chromosome 4p15.1–p15.3, is a positional candidate gene for SLC. The specific aim of this study was to identify genetic variants of theSLC34A2gene in both baboon and human, and to examine the relationship of these polymorphisms with SLC activity and blood pressure.MethodsSingle-nucleotide polymorphism (SNP) was identified by sequencing theSLC34A2gene in 24 baboon founders and 94 unrelated individuals. All tag SNPs inSLC34A2were genotyped in 1,856 individuals from 252 pedigrees of mixed European ancestry. Three SNPs in baboon were genotyped in 634 baboons comprising 11 pedigrees.ResultsIn human, one SNP (rs12501856) was found to be significantly associated with SLC individually, though it did not pass multiple testing correction; however, haplotype 2 containing allele C of SNP rs12501856 showed strong evidence of association with SLC (P= 0.0037) after multiple comparison adjustment. This haplotype was also marginally associated with diastolic blood pressure and systolic blood pressure. This finding was confirmed in baboons, where a highly significant association was detected between SLC and baboon SNPAsn136Asn(P= 0.0001). However, the associated SNP did not account for the linkage signal on baboon chromosome 5.ConclusionsConsistent results in two different species imply thatSLC34A2is associated with SLC activity and blood pressure.American Journal of Hypertension2009; doi:10.1038/ajh.2008.355
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影响因子：
9.8
作者：
Almasy, L;Blangero, J
通讯作者：
Blangero, J
高血压黑人非洲人血压正常的后代的钠-锂反转运活动
影响因子：
2.7
作者：
A. Obasohan;C. Osuji;I. Oforofuo
通讯作者：
I. Oforofuo
5 至 89 岁白种人钠锂逆转运和血压的分布。
DOI：
10.1161/01.hyp.13.4.378
发表时间：
1989
期刊：
Hypertension (Dallas, Tex. : 1979)
影响因子：
--
作者：
Turner,ST;Weidman,WH;Michels,VV;Reed,TJ;Ormson,CL;Fuller,T;Sing,CF
通讯作者：
Sing,CF
47 至 89 岁白种人的钠-锂逆转运和高血压概率。
DOI：
10.1161/01.hyp.20.6.841
发表时间：
1992
期刊：
Hypertension (Dallas, Tex. : 1979)
影响因子：
--
作者：
Turner,ST;Rebbeck,TR;Sing,CF
通讯作者：
Sing,CF
原发性高血压的遗传多态性和红细胞钠锂反转运。
DOI：
10.1016/0009-8981(96)06389-9
发表时间：
1996
期刊：
Clinica chimica acta; international journal of clinical chemistry
影响因子：
--
作者：
K. Tournoy;J. Delanghe;D. Duprez;M. D. De Buyzere;R. Verbeeck;D. Vergauwe;G. Leroux;D. Clement
通讯作者：
D. Clement