Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population.
Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population.
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SLC12A3 的遗传变异调节一组蒙古族谱系人群的血清脂质谱。
DOI：
10.1186/s12944-018-0737-1
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发表时间：
2018-04-16
影响因子：
4.5
通讯作者：
Su X
中科院分区：
文献类型：
--
作者：
An C;Liang J;Zhang K;Su X
血脂谱，包括低密度脂蛋白胆固醇水平，与高血压有关，高血压是脑血管疾病的主要原因，占全球死亡率的30%。以前的工作也证明了SLC12A3基因的遗传变异在蒙古族人群中对人类心血管疾病、高血压和其他疾病的重要作用。然而，SLC12A3基因多态性与个体血脂谱之间的关系尚不清楚。在424名蒙古族家系队列中，对SLC12A3基因的15个SNPs进行了基因分型。用家系关联检验(FBAT)分析SLC12A3基因多态性与4种血脂谱的相关性，并用单倍型分析进行验证。从单位点和单倍型分析来看，SLC12A3基因多态性与低密度脂蛋白胆固醇水平密切相关。两个单核苷酸多态性rs5803和rs711746与个体血清低密度脂蛋白水平显著相关(z = − 2.08，P-e = 0.038；z = 2.09，P-e = 0.023)，两个单核苷酸多态性构成的单倍型分布也与受试者血清低密度脂蛋白水平显著相关(Global Chi2 = 9.06 DF = 3，P = 0.028)。我们的结果证明了SLC12A3基因多态性在个体血脂谱差异中的重要性，从而提供了证据，表明在某些情况下，该基因变异可能通过调节人的低密度脂蛋白-C水平和血压而促进心血管疾病的发生。本文的在线版本(10.1186/s12944-0180737-1)包含补充材料，可供授权用户使用。
The serum lipid profile, including LDL-C level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate. Previous work also demonstrated important roles of genetic variants of SLC12A3 gene on human CVD, hypertension and other diseases in Mongolian population. However, the relationship between SLC12A3 gene polymorphisms on individuals’ lipid profile is still unknown. A panel of 15 SNPs of SLC12A3 gene was genotyped within a 424 Mongolians pedigree cohort. The associations between SLC12A3 polymorphisms and four lipid profiles were analyzed by family-based association test (FBAT) and confirmed with haplotype analysis. From both single site and haplotype analyses, the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level. Two SNPs, rs5803 and rs711746 showed significant associations with individuals’ serum LDL-C level (z = − 2.08, P-e = 0.038; z = 2.09, P-e = 0.023, respectively), and distribution of haplotypes constructed by two SNPs also associated with participants’ serum LDL-C level, significantly (Global Chi2 = 9.06 df = 3, P = 0.028). Our results demonstrated the importance of SLC12A3 polymorphisms in individuals’ difference about their serum lipid profiles, thereby providing evidence that the genetic variants may contribute to CVD development via modulating person’s LDL-C level and blood pressure, in certain contexts. The online version of this article (10.1186/s12944-018-0737-1) contains supplementary material, which is available to authorized users.
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影响因子：
64.8
作者：
通讯作者：
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高血压和心血管疾病的遗传学及其相互联系的途径：大型研究的教训。
影响因子：
5.6
作者：
Kraja, Aldi T.;Hunt, Steven C.;Rao, D. C.;Davila-Roman, Victor G.;Arnett, Donna K.;Province, Michael A.
通讯作者：
Province, Michael A.
影响因子：
16.6
作者：
Gallardo-Montejano VI;Saxena G;Kusminski CM;Yang C;McAfee JL;Hahner L;Hoch K;Dubinsky W;Narkar VA;Bickel PE
通讯作者：
Bickel PE
影响因子：
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作者：
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通讯作者：
Park JU
影响因子：
9.3
作者：
Yin RX;Wu DF;Miao L;Aung LH;Cao XL;Yan TT;Long XJ;Liu WY;Zhang L;Li M
通讯作者：
Li M