Rihet P, Traoré Y, Abel L, Aucan C, Traoré-Leroux T, Fumoux F
Institut National de la Santé et de la Recherche Médicale (INSERM) U 399, Immunology and Genetics of Parasitic Diseases, Marseille, France.
Am J Hum Genet. 1998 Aug;63(2):498-505. doi: 10.1086/301967.
Plasmodium falciparum malaria remains a major cause of morbidity and mortality in many tropical countries, especially those in sub-Saharan Africa. Human genetic control of malaria infection is poorly understood; in particular, genes controlling P. falciparum blood infection levels remain to be identified. We recently evidenced the existence of complex genetic factors controlling blood infection levels in an urban population living in Burkina Faso. We performed, on 153 sibs from 34 families, sib-pair linkage analyses between blood infection levels and chromosome 5q31-q33, which contains numerous candidate genes encoding immunological molecules. Our results, obtained by means of the two-point Haseman-Elston (HE) method and a nonparametric (NP) approach, show linkage of parasitemia to D5S393 (P=.002) and D5S658 (P=.0004). Multipoint analyses confirmed linkage, with a peak close to D5S658 (P=.0013 and P=.0007 with the HE and NP methods, respectively). The heritability of the locus was .48, according to the two-point results, and .43, according to the multipoint results; this indicates that its variation accounted for approximately 45% of the variance of blood infection levels and that the locus plays a central role in the control of parasitemia. The identification of the gene is, therefore, of major interest in understanding the mechanisms controlling P. falciparum parasitemia.
恶性疟原虫疟疾仍是许多热带国家,尤其是撒哈拉以南非洲国家发病和死亡的主要原因。人们对疟疾感染的人类基因控制了解甚少;特别是,控制恶性疟原虫血液感染水平的基因仍有待确定。我们最近证明,在布基纳法索生活的城市人群中存在控制血液感染水平的复杂遗传因素。我们对来自34个家庭的153名同胞进行了血液感染水平与5号染色体q31-q33之间的同胞对连锁分析,该区域包含许多编码免疫分子的候选基因。我们通过两点哈斯曼-埃尔斯顿(HE)方法和非参数(NP)方法获得的结果显示,疟原虫血症与D5S393(P = 0.002)和D5S658(P = 0.0004)存在连锁。多点分析证实了连锁关系,峰值接近D5S658(HE方法和NP方法的P值分别为0.0013和0.0007)。根据两点结果,该基因座的遗传力为0.48,根据多点结果为0.43;这表明其变异约占血液感染水平方差的45%,且该基因座在疟原虫血症的控制中起核心作用。因此,该基因的鉴定对于理解控制恶性疟原虫疟原虫血症的机制具有重要意义。