Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort.

Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort.
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对黑人南非个体血压遗传学的见解:二十个队列的诞生。

DOI:
10.1186/s12920-018-0321-6
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发表时间:
2018-01-17
影响因子:
2.7
通讯作者:
of the AWI-Gen study and as members of the H3Africa Consortium
of the AWI-Gen study and as members of the H3Africa Consortium
中科院分区:
医学3区
文献类型:
--
作者:
Hendry LM;Sahibdeen V;Choudhury A;Norris SA;Ramsay M;Lombard Z;of the AWI-Gen study and as members of the H3Africa Consortium

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心血管疾病(CVD)是全球非传染性疾病死亡的主要原因,高血压是导致CVD的主要风险因素。血压是一种可遗传的特征,在非洲人中进行的遗传研究相对较少。这项研究旨在确定与南非黑人收缩压(SBP)和舒张压(DBP)差异相关的遗传变异。使用Metabochip对出生至20岁队列(n = 1947)的一部分参与者(混合性别;中位年龄17.9)及其成年女性护理人员(中位年龄41.0)进行基因分型。在GEMMA(v0.94.1)中,使用单变量线性混合模型将数据作为合并数据集(所有参与者和护理人员)进行分析,合并中心相关性矩阵以解释个体之间的相关性,并对年龄、性别、BMI和基因型信息的主成分进行调整。关联分析确定了NOS 1AP中的感兴趣区域(DBP:rs112468105 - p = 7.18 × 10−5和SBP:rs4657181 - p = 4.04 × 10−5),MYRF(SBP:rs 11230796- p = 2.16 × 10−7,rs 400075- p = 2.88 × 10−7)和POC 1B(SBP:rs770373 - p = 7.05 × 10−5,rs770374 - p = 9.05 × 10−5)基因和一些基因间区域(DACH 1| LOC 440145(DBP:rs 17240498- p = 4.91 × 10−6和SBP:rs 17240498- p = 2.10 × 10−5)和INTS 10| LPL(SBP:rs55830938 - p = 1.30 × 10−5,rs73599609 - p = 5.78 × 10−5,rs73667448 - p = 6.86 × 10−5)。这项研究进一步深入了解了遗传变异对南非黑人血压的影响。未来需要在更大样本中进行功能和复制研究,以确认所确定的基因座在血压调节中的作用,以及这些变异是否具有非洲特异性。本文的在线版本(10.1186/s12920-018-0321-6)包含补充材料,可供授权用户使用。
Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing to CVDs. Blood pressure is a heritable trait, with relatively few genetic studies having been performed in Africans. This study aimed to identify genetic variants associated with variance in systolic (SBP) and diastolic (DBP) blood pressure in black South Africans. Genotyping was performed using the Metabochip in a subset of participants (mixed sex; median age 17.9) and their adult female caregivers (median age 41.0) from the Birth to Twenty cohort (n = 1947). Data were analysed as a merged dataset (all participants and caregivers together) in GEMMA (v0.94.1) using univariate linear mixed models, incorporating a centered relatedness matrix to account for the relatedness between individuals and with adjustments for age, sex, BMI and principal components of the genotype information. Association analysis identified regions of interest in the NOS1AP (DBP: rs112468105 - p = 7.18 × 10−5 and SBP: rs4657181 - p = 4.04 × 10−5), MYRF (SBP: rs11230796 - p = 2.16 × 10−7, rs400075 - p = 2.88 × 10−7) and POC1B (SBP: rs770373 - p = 7.05 × 10−5, rs770374 - p = 9.05 × 10−5) genes and some intergenic regions (DACH1|LOC440145 (DBP: rs17240498 - p = 4.91 × 10−6 and SBP: rs17240498 - p = 2.10 × 10−5) and INTS10|LPL (SBP: rs55830938 - p = 1.30 × 10−5, rs73599609 - p = 5.78 × 10−5, rs73667448 - p = 6.86 × 10−5)). The study provided further insight into the contribution of genetic variants to blood pressure in black South Africans. Future functional and replication studies in larger samples are required to confirm the role of the identified loci in blood pressure regulation and whether or not these variants are African-specific. The online version of this article (10.1186/s12920-018-0321-6) contains supplementary material, which is available to authorized users.
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