[1]平 楠,王旭兰,吴娉娉.变应性鼻炎患儿BPIFA1基因rs750064，rs1078761位点多态性与哮喘易感性的关联研究[J].现代检验医学杂志,2025,40(04):18-23.[doi:10.3969/j.issn.1671-7414.2025.04.004]
　PING Nan,WANG Xulan,WU Pingping.Association between Polymorphism of BPIFA1 Gene rs750064, rs1078761 Loci and Susceptibility to Asthma in Pediatric Patients with Allergic Rhinitis[J].Journal of Modern Laboratory Medicine,2025,40(04):18-23.[doi:10.3969/j.issn.1671-7414.2025.04.004]
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变应性鼻炎患儿BPIFA1基因rs750064，rs1078761位点多态性与哮喘易感性的关联研究()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年04期
页码:
18-23
栏目:
论著
出版日期:
2025-07-15

文章信息/Info

Title:
Association between Polymorphism of BPIFA1 Gene rs750064, rs1078761 Loci and Susceptibility to Asthma in Pediatric Patients with Allergic Rhinitis
文章编号:
1671-7414（2025）04-018-06
作者:
平 楠，王旭兰，吴娉娉
(长治医学院附属和平医院儿科，山西长治 046000)
Author(s):
PING Nan, WANG Xulan, WU Pingping
(Department of Pediatric, Heping Hospital Affilited to Changzhi Medical College, Shanxi Changzhi 046000, China)
关键词:
变应性鼻炎; 哮喘; BPI 折叠包含家族A 成员1 基因; 基因多态性; 遗传易感性
分类号:
R765.21；Q786
DOI:
10.3969/j.issn.1671-7414.2025.04.004
文献标志码:
A
摘要:
目的 探究变应性鼻炎（AR）患者BPI 折叠包含家族A 成员1（BPIFA1）基因rs750064，rs1078761 位点多态性与哮喘易感性的关联。方法 选取2021 年3 月～ 2024 年5 月长治医学院附属和平医院收治的136 例AR 病例为研究对象，年龄2 ～ 10 岁，其中70 例AR 患儿伴哮喘为观察组；66 例单纯AR 为对照组。收集患儿实验室指标，分子量阵列基因分析（MassArray）系统对BPIFA1 基因rs750064，rs1078761 位点进行基因分型；比较两组基因型分布和等位基因频率的差异，非条件Logistic 回归分析BPIFA1 基因rs750064，rs1078761 位点对AR 患儿哮喘易感性的相关性。结果 与对照组比较，观察组白细胞介素-6(IL-6)、呼出气一氧化氮（FeNO）、免疫球蛋白E（IgE）水平显著升高，用力肺活量（FVC）水平显著降低，差异具有统计学意义（t=-22.648 ～ 4.879，均P<0.05）；对照组与观察组的BPIFA1 基因rs750064，rs1078761 位点基因型分布均符合Hardy-Weinberg 平衡定律（χ2=1.492 ～ 5.549，均P>0.05），具有群体代表性。观察组BPIFA1 基因rs750064 位点的等位基因T 和基因型TT，rs1078761 位点等位基因A 和基因型AA 分布频率均高于对照组，差异具有统计学意义（χ2=8.251 ～ 10.273，均P<0.05）；非条件Logistic 回归分析显示，BPIFA1 基因rs750064 位点在共显性模型(CC vs CT) 下，CC 基因型携带者患病风险低于TT 基因型携带者(OR=0.537，95%CI：0.276 ～ 1.804)。显性模型(CT+CC vs TT) 和隐性模型(CT+TT vs CC) 下，rs750064 位点多态性与AR 患儿哮喘的患病风险关联性差异具有统计学意义（均P<0.05）。BPIFA1 基因rs1078761 位点在共显性模型(GG vs AG) 下，GG基因型携带者患病风险低于AA 基因型携带者(OR=0.498，95%CI：0.176~1.205)；显性模型(AG+GG vs AA) 和隐性模型(AG+AA vs GG) 下，rs1078761 位点多态性与AR 患儿哮喘的患病风险关联性差异具有统计学意义（均P<0.05）。在调整各因素后，rs750064，rs1078761 位点在三种遗传模型下与AR 并发哮喘的发病风险的关联性，差异具有统计学意义(均P<0.05)。结论 BPIFA1 基因多态性与AR 患儿哮喘易感性明显相关，AR 患儿rs750064 位点基因型TT 携带者，rs1078761 位点基因型AA 携带者更易发生哮喘。
Abstract:
Objective To explore the association between rs750064，rs1078761 loci polymorphisms of BPI fold containing family A member 1 (BPIFA1) gene and susceptibility to asthma in pediatric patients with allergic rhinitis(AR). Methods A total of 136 cases of AR admitted to Heping Hospital Affiliated to Changzhi Medical College from March 2021 to May 2024, aged 2 ～ 10 years old, were selected as the observation group, including 70 cases of asthma with AR, the control group was 66 cases with AR alone.The laboratory indicators of the children were collected, the rs750064 and rs1078761 loci of BPIFA1 gene were genotyped by MassArray System.The differences in genotype distribution and allele frequency between the two groups were compared. The correlation between rs750064 and rs1078761 loci of BPIFA1 gene and susceptibility to asthma in children with AR was analyzed by unconditional Logistic regression. Results Compared with the control group, interleukin -6 (IL-6), fractional exhaled nitric oxide (FeNO) and immunoglobulin E (IgE) levels in the observation group were significantly increased, while forced vital capacity (FVC) levels were significantly decreased, with statistical significance (t=-22.648 ~ 4.879, all P<0.05).The genotypes of rs750064 and rs1078761 of BPIFA1 gene in control group and observation group were in line with Hardy-Weinberg equilibrium law (χ2=1.492 ~ 5.549，all P>0.05), indicating population representation .The distribution frequencies of allele T and genotype TT at rs750064 of BPIFA1 gene and allele A and genotype AA at rs1078761 locus in the observation group were higher than those in the control group, and the differences were statistically significant (χ2=8.251 ~ 10.273，all P<0.05).The results of unconditional Logistic regression showed that in the co-dominant model (CC vs CT) of rs750064, the risk of CC genotype carriers was lower than that of TT genotype carriers (OR=0.537, 95%CI： 0.276 ～ 1.804).In the dominant model (CT+CC vs TT) and the recessive model (CT+TT vs CC), rs750064 polymorphism was associated with the risk of AR with asthma (all P<0.05).In the co-dominant model (GG vs AG), the risk of rs1078761 in GG genotype carriers was lower than that in AA genotype carriers (OR=0.498, 95%CI：0.176 ~ 1.205).Under the dominant model (AG+GG vs AA) and recessive model (AG+AA vs GG), rs1078761 polymorphism was associated with the risk of AR combined asthma with statistical significance (all P<0.05). After adjusting various factors, rs750064 and rs1078761 were associated with the risk of AR combined with asthma under the three genetic models, and the differences were statistically significant (all P<0.05). Conclusion The polymorphism of BPIFA1 gene is significantly related to the susceptibility of asthma in children with AR. TT carriers of rs750064 locus and AA carriers of rs1078761 locus are more likely to develop asthma in children with AR.

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备注/Memo

备注/Memo:
作者简介：平楠（1984-），女，硕士研究生，主治医师，研究方向：儿科呼吸系统及内分泌系统疾病，E-mail：meiz0623@163.com。
更新日期/Last Update: 2025-07-15