Thr175Ala of Toll-like receptor-4 gene is a common non-synonymous single nucleotide polymorphism in a Japanese population

N. Okayama, Y. Suehiro, Koji Ueno, S. Hazama, M. Oka, Y. Hinoda
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Abstract

It has been shown that a non-synonymous polymorphism Asp299Gly of Toll-like receptor-4 (TLR-4) gene could be associated with lipopolysaccharide hyporesponsiveness and decreased risk of atherosclerosis in Caucasians. However, this polymorphism is not detected in Asians including Japanese and hence considered to be a population-specific one. To investigate if there are common non-synonymous SNPs of TLR-4 gene in Japanese, 100 DNA samples randomly selected from 613 healthy volunteers were sequenced for exons 2 and 3. As a result, Thr175Ala (A690G) was found in 6 out of 100 samples. Genotyping of Thr175Ala was then performed for 842 DNA samples from 613 healthy volunteers and 229 patients with ulcerative colitis. Frequency of heterozygote (Thr/Ala) or homozygote (Ala/Ala) in healthy subjects was 2.3% (14/613) or 0% (0/613), respectively. There was no significant difference of the genotype distribution between ulcerative colitis patients and age- and gender-matched controls. Furthermore, Thr175 is known to be involved in a potential N-linked glycosylation site and hence the polymorphism might affect the function of TLR-4. These data suggest that Thr175Ala is a common non-synonymous polymorphism of TLR-4 gene in a Japanese population.
toll样受体-4基因Thr175Ala是日本人群中常见的非同义单核苷酸多态性
研究表明,toll样受体-4 (TLR-4)基因的非同义多态性Asp299Gly可能与白种人脂多糖低反应性和动脉粥样硬化风险降低有关。然而,这种多态性在包括日本人在内的亚洲人中没有发现,因此被认为是一种特定于人群的多态性。为了研究日本人TLR-4基因是否存在共同的非同义snp,从613名健康志愿者中随机抽取100份DNA样本,对其外显子2和3进行了测序。结果,在100个样品中有6个样品中发现了Thr175Ala (A690G)。然后对来自613名健康志愿者和229名溃疡性结肠炎患者的842份DNA样本进行Thr175Ala基因分型。健康人群杂合子(Thr/Ala)和纯合子(Ala/Ala)的频率分别为2.3%(14/613)和0%(0/613)。溃疡性结肠炎患者与年龄和性别匹配对照组的基因型分布无显著差异。此外,已知Thr175参与潜在的n链糖基化位点,因此多态性可能影响TLR-4的功能。这些数据表明,Thr175Ala是日本人群中TLR-4基因常见的非同义多态性。
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