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RYBP 和 AOAH 基因多态性与中国人群慢性鼻-鼻窦炎的相关性:一项复制研究。

Polymorphisms in RYBP and AOAH genes are associated with chronic rhinosinusitis in a Chinese population: a replication study.

机构信息

Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, People's Republic of China.

出版信息

PLoS One. 2012;7(6):e39247. doi: 10.1371/journal.pone.0039247. Epub 2012 Jun 19.

Abstract

BACKGROUND

The development of CRS is believed to be the result of combined interactions between the genetic background of the affected subject and environmental factors.

OBJECTIVES

To replicate and extend our recent findings from genetic association studies in chronic rhinosinusitis (CRS) performed in a Canadian Caucasian population in a Chinese population.

METHODS

In a case-control replication study, DNA samples were obtained from CRS with (n  = 306; CRSwNP) and without (n = 332; CRSsNP) nasal polyps, and controls (n = 315) in a Chinese population. A total of forty-nine single nucleotide polymorphisms (SNPs) selected from previous identified SNPs associated with CRS in Canadian population, and SNPs from the CHB HapMap dataset were individually genotyped.

RESULTS

We identified two SNPs respectively in RYBP (rs4532099, p = 2.15E-06, OR = 2.59) and AOAH (rs4504543, p = 0.0001152, OR = 0.58) significantly associated with whole CRS cohort. Subgroup analysis for the presence of nasal polyps (CRSwNP and CRSsNP) displayed significant association in CRSwNP cohorts regarding to one SNP in RYBP (P = 3.24(E)-006, OR = 2.76). Evidence of association in the CRSsNP groups in terms of 2 SNPs (AOAH_rs4504543 and RYBP_rs4532099) was detected as well. Stratifying analysis by gender demonstrated that none of the selected SNPs were associated with CRSwNP as well as CRSsNP. Meanwhile 3 SNPs (IL1A_rs17561, P = 0.005778; IL1A_rs1800587, P = 0.009561; IRAK4_rs4251513, P = 0.03837) were associated with serum total IgE level.

CONCLUSIONS

These genes are biologically plausible, with roles in regulation of transcription (RYBP) and inflammatory response (AOAH). The present data suggests the potential common genetic basis in the development of CRS in Chinese and Caucasian population.

摘要

背景

CRS 的发展被认为是受影响个体的遗传背景与环境因素共同作用的结果。

目的

在中国人群中,对我们之前在加拿大白种人群中进行的慢性鼻-鼻窦炎(CRS)遗传关联研究的发现进行复制和扩展。

方法

在病例对照复制研究中,从中国人群的 CRS 患者(伴有鼻息肉,n = 306;CRSwNP)、无鼻息肉的 CRS 患者(n = 332;CRSsNP)和对照组(n = 315)中获得 DNA 样本。从先前在加拿大人群中与 CRS 相关的已确定的 SNP 中选择了 49 个单核苷酸多态性(SNP),并对 CHB HapMap 数据集的 SNP 进行了单独基因分型。

结果

我们在中国人群中发现了两个分别位于 RYBP(rs4532099,p = 2.15E-06,OR = 2.59)和 AOAH(rs4504543,p = 0.0001152,OR = 0.58)的 SNP 与整个 CRS 队列显著相关。对伴有鼻息肉(CRSwNP 和 CRSsNP)的亚组分析显示,在 CRSwNP 队列中,一个位于 RYBP 的 SNP(P = 3.24E-006,OR = 2.76)与该队列显著相关。在 CRSsNP 组中也检测到了 2 个 SNP(AOAH_rs4504543 和 RYBP_rs4532099)的关联证据。按性别分层分析表明,没有一个选择的 SNP 与 CRSwNP 或 CRSsNP 相关。同时,3 个 SNP(IL1A_rs17561,P = 0.005778;IL1A_rs1800587,P = 0.009561;IRAK4_rs4251513,P = 0.03837)与血清总 IgE 水平相关。

结论

这些基因在转录调控(RYBP)和炎症反应(AOAH)中具有生物学意义。本研究数据提示了中国人和白种人群中 CRS 发病的潜在共同遗传基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b65f/3378692/da06785968bb/pone.0039247.g001.jpg

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