Franceschini Nora, Wojczynski Mary K, Göring Harald H H, Peralta Juan Manuel, Dyer Thomas D, Li Xia, Li Hao, North Kari E
Department of Epidemiology, University of North Carolina Chapel Hill, Bank of America Center, 137 East Franklin Street, Suite 306, CB #8050, Chapel Hill, North Carolina 27514, USA.
BMC Proc. 2007;1 Suppl 1(Suppl 1):S85. doi: 10.1186/1753-6561-1-s1-s85. Epub 2007 Dec 18.
In order to identify regulatory genes, we determined the heritability of gene transcripts, performed linkage analysis to identify quantitative trait loci (QTLs), and evaluated the evidence for shared genetic effects among transcripts with co-localized QTLs in non-diseased participants from 14 CEPH (Centre d'Etude du Polymorphisme Humain) Utah families. Seventy-six percent of transcripts had a significant heritability and 54% of them had LOD score >or= 1.8. Bivariate genetic analysis of 15 transcripts that had co-localized QTLs on 4q28.2-q31.1 identified significant genetic correlation among some transcripts although no improvement in the magnitude of LOD scores in this region was noted. Similar results were found in analysis of 12 transcripts, that had co-localized QTLs in the 13q34 region. Principal-component analyses did not improve the ability to identify chromosomal regions of co-localized gene expressions.
为了鉴定调控基因,我们测定了基因转录本的遗传力,进行连锁分析以鉴定数量性状位点(QTL),并评估了来自14个CEPH(人类多态性研究中心)犹他州家族的非患病参与者中具有共定位QTL的转录本之间共享遗传效应的证据。76%的转录本具有显著的遗传力,其中54%的转录本LOD得分≥1.8。对在4q28.2 - q31.1上具有共定位QTL的15个转录本进行双变量遗传分析,发现一些转录本之间存在显著的遗传相关性,尽管该区域的LOD得分幅度没有提高。在对12个在13q34区域具有共定位QTL的转录本进行分析时也发现了类似结果。主成分分析并没有提高鉴定共定位基因表达染色体区域的能力。