Moissidis Ioannis, Chinoy Birjis, Yanamandra Krishna, Napper Dawn, Thurmon Theodore, Bocchini Joseph, Bahna Sami L
Allergy and Immunology Section, Louisiana State University Health Sciences Center, 1501 Kings Highway, Shreveport, LA 71130, USA.
Genet Med. 2005 Jul-Aug;7(6):406-10. doi: 10.1097/01.gim.0000170994.24960.48.
IL-13, RANTES (Regulated on Activation, Normal T cells Expressed and Secreted), and cysteinyl leukotrienes are asthma and atopy mediators. Two RANTES -403(G to A) and -28(C to G), an -1055 IL-13(C to T), and a -444(A to C) leukotriene C4 synthase (LTC4S) single nucleotide polymorphisms (SNPs) have been shown in Caucasians and Asians as asthma and atopy risk factors. We studied these SNPs in African Americans with asthma and/or atopy.
We studied 61 patients with asthma and/or atopy and 129 to 157 newborn controls for the -403 RANTES, -28 RANTES, and -1055 IL-13 SNPs, as well as 47 patients and 60 newborn controls for the -444 LTC4S SNP.
The two groups did not significantly differ at the genotypes of the -403 and -28 RANTES SNP. On the other hand, the mutant TT genotype for the -1055 IL-13 SNP was detected in 19.7% of patients versus 12.7% in controls (P < 0.04, OR 2.9, 95% CI 1.0-8.0), and the mutant T allele in 58.3% versus 36.6% in controls (P < 0.02, OR 2.4, 95% CI 1.1-5.2). In a similar fashion, for the -444 LTC4S SNP, the mutant AC genotype was detected in 19.1% versus 10.0% in controls (P > 0.28); mutant C allele had an OR of 2.1 (95% CI 0.7-6.3).
African American asthmatics/atopics had higher frequency of the TT mutant gene for the -1055 IL-13 SNP and of its mutant T allele. Regarding the -444 LTC4S SNP, there was a definite difference, although not statistically significant, with an OR of 2.1 for the mutant AC genotype in patients. If these findings become reproduced by larger studies, it may suggest that IL-13 and LTC4S SNPs can be used as predictive markers for asthma/atopy in African Americans.
白细胞介素-13(IL-13)、调节激活正常T细胞表达和分泌因子(RANTES)以及半胱氨酰白三烯是哮喘和特应性疾病的介质。在白种人和亚洲人中,RANTES基因的两个单核苷酸多态性(SNP)位点-403(G→A)和-28(C→G)、IL-13基因的-1055(C→T)以及白三烯C4合成酶(LTC4S)基因的-444(A→C)已被证明是哮喘和特应性疾病的危险因素。我们对患有哮喘和/或特应性疾病的非裔美国人进行了这些SNP的研究。
我们研究了61例患有哮喘和/或特应性疾病的患者以及129至157例新生儿对照,检测RANTES基因的-403、-28位点以及IL-13基因的-1055位点的SNP;同时研究了47例患者和60例新生儿对照,检测LTC4S基因的-444位点的SNP。
两组在RANTES基因-403和-28位点的基因型上无显著差异。另一方面,IL-13基因-1055位点的突变型TT基因型在19.7%的患者中被检测到,而在对照中为12.7%(P<0.04,比值比[OR]2.9,95%可信区间[CI]1.0 - 8.0);突变型T等位基因在患者中的比例为58.3%,对照中为36.6%(P<0.02,OR 2.4,95%CI 1.1 - 5.2)。同样,对于LTC4S基因的-444位点SNP,突变型AC基因型在患者中的比例为19.1%,对照中为10.0%(P>0.28);突变型C等位基因的OR为2.1(95%CI 0.7 - 6.3)。
患有哮喘/特应性疾病的非裔美国人中,IL-13基因-1055位点的TT突变基因及其突变型T等位基因的频率较高。关于LTC4S基因的-444位点SNP,虽然差异无统计学意义,但患者中突变型AC基因型的OR为2.1,存在一定差异。如果这些发现能在更大规模的研究中得到验证,可能表明IL-13和LTC4S基因的SNP可作为非裔美国人哮喘/特应性疾病的预测标志物。