Shek L P, Tay A H, Chew F T, Goh D L, Lee B W
Department of Paediatrics, National University of Singapore, Lower Kent Ridge Road, Singapore 119074.
Allergy. 2001 Aug;56(8):749-53. doi: 10.1034/j.1398-9995.2001.056008749.x.
Asthma and atopy are complex genetic traits, influenced by the interaction of multiple genes and environmental factors. Linkage of these traits to chromosome 5q31-33 has been shown in other populations, but has not been well studied in the Chinese. We studied linkage between asthma and atopy with markers on chromosome 5q31-33 in the Singapore Chinese. This region contains many candidate genes, including the cytokine gene cluster.
We recruited 88 Chinese families with at least two affected offspring, totaling 373 subjects, with 125 and 119 sib-pairs for atopy and asthma, respectively. All individuals were genotyped with 19 polymorphic microsatellite markers spanning a distance of 41 cM along chromosome 5q31-33. Affected sib-pair and multipoint linkage analysis was performed.
There was evidence for linkage of the asthma and atopy phenotypes with three markers, D5S2110, D5S2011, and D5S412 (P values of 0.001 to 0.00001). Multipoint analysis further substantiated this (nonparametric linkage scores of 1.8-2.9). These findings suggest that susceptibility genes for asthma and atopy are found in this region in the Chinese.
This study has shown linkage of atopy and asthma to chromosome 5q31-33 in a heterogeneous Chinese population. These findings further substantiate the notion that chromosome 5q31-33 contains "universally" important susceptibility genes for these traits.
哮喘和特应性是复杂的遗传性状,受多个基因与环境因素相互作用的影响。在其他人群中已显示这些性状与5号染色体q31 - 33区域存在连锁关系,但在中国人群中尚未得到充分研究。我们对新加坡华人中哮喘和特应性与5号染色体q31 - 33上的标记进行了连锁研究。该区域包含许多候选基因,包括细胞因子基因簇。
我们招募了88个至少有两个患病后代的华人家族,共373名受试者,其中分别有125对和119对同胞对患有特应性和哮喘。所有个体均使用沿5号染色体q31 - 33跨度为41厘摩的19个多态微卫星标记进行基因分型。进行了患病同胞对和多点连锁分析。
有证据表明哮喘和特应性表型与三个标记D5S2110、D5S2011和D5S412存在连锁关系(P值为0.001至0.00001)。多点分析进一步证实了这一点(非参数连锁分数为1.8 - 2.9)。这些发现表明,在中国人群中,该区域存在哮喘和特应性的易感基因。
本研究显示了在一个异质性华人群体中特应性和哮喘与5号染色体q31 - 33的连锁关系。这些发现进一步证实了5号染色体q31 - 33包含这些性状“普遍”重要的易感基因这一观点。