Plasma lipoprotein(a) (Lp(a)) is a quantitative trait associated with atherothrombotic disease in European and Asian populations. Lp(a) concentrations vary widely within and between populations, with Africans exhibiting on average two- to threefold higher Lp(a) levels and a different distribution compared to Europeans. The apo(a) gene locus on chromosome 6q26-27 (LPA, MIM 152200) has been identified as the major quantitative trait locus (QTL) for Lp(a) concentrations in Europeans and populations of African descent (North American and South African Blacks) but data on autochthonous Black Africans are lacking.Here, we have analysed Lp(a) plasma concentrations, apo(a) isoforms in plasma and four polymorphisms in the LPA gene in 31 African families with 54 children from Gabon. Weighted midparent-offspring regression estimated a heritability h2=0.76. The correlation of Lp(a) levels associated with LPA alleles identical by descent (IBD) resulted in a heritability estimate of 0.801. Our data demonstrate that Lp(a) concentrations are highly heritable in a Central African population without admixture and high Lp(a) (median 43 mg/dl). LPA is the major QTL, explaining most or all of the heritability of Lp(a) in this population.

译文

:血浆脂蛋白(a)(Lp(a))是与欧洲和亚洲人群中的动脉粥样硬化血栓形成疾病相关的定量性状。 Lp(a)浓度在人群内部和人群之间差异很大,与欧洲人相比,非洲人的Lp(a)水平平均高出2到3倍,分布也有所不同。染色体6q26-27(LPA,MIM 152200)上的apo(a)基因基因座已被确定为欧洲人和非洲人后裔(北美和南非黑人)Lp(a)浓度的主要定量性状基因座(QTL) ),但缺乏有关当地黑人非洲人的数据。在此,我们分析了31个非洲家庭(有54名加蓬儿童)的血浆Lp(a)血浆浓度,血浆apo(a)亚型以及LPA基因的四个多态性。加权的中父母-后代回归估计遗传力h2 = 0.76。与血统相同的LPA等位基因相关的Lp(a)水平的相关性(IBD)导致遗传度估计为0.801。我们的数据表明,Lp(a)的浓度在没有混合和高Lp(a)(中值43 mg / dl)的中非人群中是高度可遗传的。 LPA是主要的QTL,解释了该人群Lp(a)的大部分或全部遗传力。

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