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A Quantitative Trait Locus on Chromosome 5p Influences D-Dimer Levels in the San Antonio Family Heart Study

机译:在圣安东尼奥家庭心脏研究中,染色体5p的定量性状基因座影响D-二聚体水平

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Background. D-dimer is associated with increasing severity of atherosclerosis and with increased risk of a cardiovascular disease (CVD).Methods and Results. To better understand this risk factor, we performed a genome scan on 803 (301 males and 502 females) Mexican Americans in the San Antonio Family Heart Study (SAFHS). The SAFHS is ideal for the discovery of quantitative trait loci (QTLs) influencing CVD because CVD risk factors are prevalent in Mexican Americans of San Antonio and because the study design involves large families, which is optimal for QTL discovery. D-dimer levels were normalized in our study. We found that D-dimer levels were heritable, at about 23% heritability (P≈.00001). In a linkage analysis employing 432 microsatellite markers, we found strong evidence of a QTL on chromosome 5p with a lod score of 3.32 at 21 centiMorgans (cM). We also found suggestive evidence of a QTL on chromosome 2q with a lod score of 2.33 at 207 cM.Conclusions. To our knowledge, the putative QTL on chromosome 5p is novel. The possible QTL on chromosome 2q is discussed in relation to a recent report of linkage of a related hemostatic factor to the same location. These results warrant further investigation.
机译:背景。 D-二聚体与动脉粥样硬化的严重程度增加和心血管疾病(CVD)的风险增加有关。方法与结果。为了更好地了解这一危险因素,我们在圣安东尼奥家庭心脏研究(SAFHS)中对803名(301名男性和502名女性)墨西哥裔美国人进行了基因组扫描。 SAFHS非常适合发现影响CVD的数量性状基因位点(QTL),因为CVD危险因素在圣安东尼奥的墨西哥裔美国人中普遍存在,并且因为研究设计涉及大家族,这对于QTL发现是最佳的。 D-二聚体水平在我们的研究中被标准化。我们发现D-二聚体水平是可遗传的,遗传力约为23%(P≈.00001)。在采用432个微卫星标记的连锁分析中,我们发现了5p染色体上QTL的有力证据,其在21厘摩(cM)时的lod得分为3.32。我们还发现在2q染色体上有一个QTL的暗示证据,在207 cM处的lod得分为2.33。据我们所知,在5p染色体上的QTL是新颖的。关于相关止血因子与相同位置的连锁关系的最新报道,讨论了染色体2q上可能的QTL。这些结果值得进一步调查。

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