Major quantitative trait locus for eosinophil count is located on chromosome 2q
Major quantitative trait locus for eosinophil count is located on chromosome 2q
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DOI：
10.1016/j.jaci.2004.05.060
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发表时间：
2004-10-01
影响因子：
14.2
通讯作者：
Martin, NG
中科院分区：
文献类型：
--
作者：
Evans, DM;Zhu, G;Martin, NG
背景：嗜酸性粒细胞是与哮喘和特应性疾病有关的粒细胞。哮喘患者血液中嗜酸性粒细胞增多的程度与哮喘症状的严重程度相关。嗜酸性粒细胞计数的QTL连锁分析可能是定位哮喘相关基因的一种更有效的策略，而不是使用受影响的亲属对进行连锁分析。方法：对738对12岁、14岁、16岁的双生子进行纵向嗜酸粒细胞计数测定。我们分出了757个高度多态的微卫星标记，平均间距与基因组中的5个厘米器官相似。结果：我们在12岁的双胞胎中发现了染色体2q33上的高度显著的连锁(优势数的对数=4.6；P=0.000002)，并提示在14岁的双胞胎中存在相同区域的连锁(优势数的对数=1.0；P=0.016)。我们还发现了基因组其他区域连锁的提示证据，包括第2、3、4、8、9、11、12、17、20和22号染色体上的区域。结论：2q33号染色体上存在一个与嗜酸性粒细胞计数有关的QTL。该QTL可能代表了一个参与哮喘病理生理的基因。
Background: Eosinophils are granulocytic white blood cells implicated in asthma and atopic disease. The degree of eosinophilia in the blood of patients with asthma correlates with the severity of asthmatic symptoms. Quantitative trait loci (QTL) linkage analysis of eosinophil count may be a more powerful strategy of mapping genes involved in asthma than linkage analysis using affected relative pairs. 1Objective: To identify QTLs responsible for variation in eosinophil count in adolescent twins.Methods: We measured eosinophil count longitudinally in 738 pairs of twins at 12, 14, and 16 years of age. We typed 757 highly polymorphic microsatellite markers at an average spacing of similar to5 centimorgans across the genome. We then used multipoint variance components linkage analysis to test for linkage between marker loci and eosinophil concentrations at each age across the genome.Results: We found highly significant linkage on chromosome 2q33 in 12-year-old twins (logarithm of the odds = 4.6; P = .000002) and suggestive evidence of linkage in the same region in 14-year-olds (logarithm of the odds = 1.0; P = .016). We also found suggestive evidence of linkage at other areas of the genome, including regions on chromosomes 2, 3, 4, 8, 9, 11, 12, 17, 20, and 22.Conclusion: A QTL for eosinophil count is present on chromosome 2q33. This QTL might represent a gene involved in asthma pathophysiology.