Comprehensive evaluation of genetic variation in S100A7 suggests an association with the occurrence of allergic rhinitis.
Comprehensive evaluation of genetic variation in S100A7 suggests an association with the occurrence of allergic rhinitis.
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DOI：
10.1186/1465-9921-9-29
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发表时间：
2008-03-28
影响因子：
5.8
通讯作者：
Cardell LO
中科院分区：
文献类型：
--
作者：
Bryborn M;Halldén C;Säll T;Adner M;Cardell LO
S100A7是一种钙结合蛋白，具有趋化和抗菌特性。持续变应性鼻炎患者的鼻灌洗液中S100A7蛋白水平降低，提示S100A7在变应性气道炎症中的作用。本研究的目的是描述S100A7的遗传变异，并寻找这种变异与变应性鼻炎之间的关系。收集了184例有花粉过敏性鼻炎病史的特应性患者和378例非特应性个体的外周血，均为瑞典血统。提取DNA，并在47个随机选择的特应性个体中对S100A7基因进行重测序。对184名特应性个体和378名非特应性个体的9个多态性进行了基因分型，并随后调查了与变应性鼻炎以及皮肤点刺试验结果的关系。估计并比较两组的单倍型。在S100A7中鉴定出13个多态性，其中7个先前未描述过。rs3014837 （G/C）引起Asp→Glu氨基酸移位，显著增加了特应性个体的次要等位基因频率。在所有位点均含有主等位基因的主单倍型在非特应性个体中更为常见，而在rs3014837位点含有次要等位基因的单倍型在特应性个体中同样更为常见。此外，与纯合子相比，该位点的杂合子在皮肤点刺试验中对11种过敏原中的9种具有显着更高的得分。这是第一个描述S100A7中与过敏相关的遗传变异的研究。结果表明rs3014837与瑞典人群的变应性鼻炎有关，并使S100A7成为进一步研究其在变应性炎症中的作用的强有力候选者。
S100A7 is a calcium-binding protein with chemotactic and antimicrobial properties. S100A7 protein levels are decreased in nasal lavage fluid from individuals with ongoing allergic rhinitis, suggesting a role for S100A7 in allergic airway inflammation. The aims of this study were to describe genetic variation in S100A7 and search for associations between this variation and allergic rhinitis. Peripheral blood was collected from 184 atopic patients with a history of pollen-induced allergic rhinitis and 378 non-atopic individuals, all of Swedish origin. DNA was extracted and the S100A7 gene was resequenced in a subset of 47 randomly selected atopic individuals. Nine polymorphisms were genotyped in 184 atopic and 378 non-atopic individuals and subsequently investigated for associations with allergic rhinitis as well as skin prick test results. Haplotypes were estimated and compared in the two groups. Thirteen polymorphisms were identified in S100A7, of which 7 were previously undescribed. rs3014837 (G/C), which gives rise to an Asp → Glu amino acid shift, had significantly increased minor allele frequency in atopic individuals. The major haplotype, containing the major allele at all sites, was more common in non-atopic individuals, while the haplotype containing the minor allele at rs3014837 was equally more common among the atopic individuals. Additionally, heterozygotes at this site had significantly higher scores in skin prick tests for 9 out of 11 tested allergens, compared to homozygotes. This is the first study describing genetic variation, associated with allergy, in S100A7. The results indicate that rs3014837 is linked to allergic rhinitis in our Swedish population and render S100A7 a strong candidate for further investigations regarding its role in allergic inflammation.
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影响因子：
4.4
作者：
SCHAFER, BW;WICKI, R;HEIZMANN, CW
通讯作者：
HEIZMANN, CW
影响因子：
5.8
作者：
Hoffjan S;Nicolae D;Ober C
通讯作者：
Ober C
影响因子：
10.3
作者：
Sugiura, H;Ebise, H;Kimura, T
通讯作者：
Kimura, T
影响因子：
4.8
作者：
Wolf, R;Mirmohammadsadegh, A;Ruzicka, T
通讯作者：
Ruzicka, T
影响因子：
14.2
作者：
Leynaert, N;Neukirch, C;Neukirch, F
通讯作者：
Neukirch, F