白细胞介素 -15,单核苷酸多态性,自发性早产,胎膜早破,遗传易感性 ," /> 白细胞介素 -15,单核苷酸多态性,自发性早产,胎膜早破,遗传易感性 ,"/> Interleukin-15,Single nucleotide polymorphisms, Spontaneous preterm birth,Premature rupture of membranes, Genetic susceptibility ,"/> <div> <span style="line-height:2;font-size:14px;">白细胞介素 -15 基因 rs10833 位点多态性</span><span style="line-height:2;font-size:14px;">与自发性早产遗传易感性的病例对照研究</span> </div>
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发育医学电子杂志  2020, Vol. 8 Issue (3): 227-233    DOI: 10.3969/j.issn.2095-5340.2020.03.007
  临床遗传   论著 |
白细胞介素 -15 基因 rs10833 位点多态性与自发性早产遗传易感性的病例对照研究
朱丽娜 杨晓 马秀伟 彭薇 王艳
解放军总医院第七医学中心 八一儿童医院 出生缺陷防控关键技术国家工程实验室 儿童器官功能衰竭北京市重点实验
室,北京 100700
A case-control study on the interleukin-15 rs10833 polymorphisms and susceptibility to spontaneous preterm birth
Zhu Lina , Yang Xiao , Ma Xiuwei,et al
1.Bayi Children’s Hospital, TheSeventh Medical Center of PLA General Hospital, Beijing 100700, China; 2.National Engineering LaboratoryFor Birth Defects Prevention and Control of Key Technology, Beijing 100700, China; 3.Beijing KeyLaboratory of Pediatric Organ Failure, Beijing 100700, China
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摘要 
【摘要】 目的  探讨白细胞介素 -15(interleukin-15,IL-15)基因 rs10833 位点多态性与自发性早产遗
传易感性的关联性,以获得中国人群的易感基因和单核苷酸多态性(single nucleotide polymorphisms,
SNPs)。 方法 2009 年 1 月至 2014 年 9 月,在解放军总医院第七医学中心八一儿童医院早产儿监护病房住院的新生儿中,选择遗传学上无关联的北京及周边地区的汉族人纳入研究。病例组为胎龄 <37 周、单胎妊娠、自发性早产的新生儿;对照组为胎龄≥ 37 周的单胎妊娠,孕妇无自发性早产或早产胎膜早破(preterm rupture of membranes,PPROM)。采集新生儿 EDTA 抗凝血样本,采用最新 SequenomMassARRAY?SNP 检测技术对 IL-15 基因 rs10833 位点多态性位点进行 SNP 分型。每个 SNP 位点的基因型频率和等位基因用频数(百分率)表示,并在共显性、显性、超显性、加性和隐性 5 种遗传模式中进行分析。采用 χ2 检验、Logistic 回归进行统计学分析。 结果  病例组 718 例,进一步分为 3 个亚组(超早产组 59 例、极早产组 186 例、轻度早产组 473 例),对照组 641 例。病例组及 3 个亚组分别与对照组比较,等位基因 G、A 的分布频率、以及 GG、GA、AA 基因型的构成比,差异均无统计学意义(P>0.05);Logistic 回归分析显示,IL-15 基因 rs10833 位点与自发性早产的遗传易感性不相关,与超早产、极早产和轻度早产的遗传易感性也均不相关(P>0.05)。病例组进一步分为 PPROM 组 197 例、无 PPROM 组521 例。PPROM 组与对照组比较,A 等位基因分布频率低于对照组(χ2 =5.660,P=0.020);两组间 GG、GA、AA 基因型构成比的差异无统计学意义(χ2 =5.510,P=0.060);Logistic 回归分析显示,IL-15 基因
rs10833 位点的 A 等位基因是 PPROM 的保护性等位基因且具有剂量效应,GA 基因型是 PPROM 的保
护性基因型。无 PPROM 组与对照组比较,A 等位基因分布频率高于对照组(χ2 =4.310,P=0.038);两组
间 GG、GA、AA 基因型构成比的差异无统计学意义(χ2 =5.340,P=0.070);Logistic 回归分析显示,IL-15
基因 rs10833 位点 A 等位基因是不合并 PPROM 的危险等位基因且具有剂量效应,A 等位型(GA+AA基因型)是不合并 PPROM 的自发性早产的风险基因型。 结论 IL-15 基因 rs10833 多态性位点的 A等位基因和 GA 基因型可降低 PPROM 的患病风险。
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关键词:  白细胞介素 -15')" href="#">    
Abstract: 
【Abstract】 Objective To analyze the association between the genetic polymorphisms of rs10833
locus of interleukin (IL)-15 gene and genetic susceptibility to spontaneous preterm birth (SPTB) and
to obtain susceptibility genes and single nucleotide polymorphisms (SNPs) in Chinese population.
Methods From January 2009 to September 2014, among the newborns hospitalized in the premature
intensive care unit of Bayi Children's Hospital, the Seventh Medical Center of PLA General Hospital, Han
nationality newborns from Beijing and surrounding areas who were not genetically related were selected
for the study. In the case group, the newborns with gestational age less than 37 weeks, singleton pregnancy
and SPTB were included. In the control group, the newborns with gestational age greater than 37 weeks and
singleton pregnancy were included, and the pregnant women had no history of SPTB or preterm rupture of
membranes (PPROM). Neonatal blood samples were collected and SNP typing of rs10833 polymorphism of
IL-15 gene was carried out by using Sequenom MassARRAY?SNP technology. The genotype frequency and
allele of each SNP locus were expressed by frequency (percentage), and were analyzed in fifive genetic models
of codominance, dominance, superdominance, additiveness and recessiveness. The statistical analysis were
performed by χ2 test and Logistic regression. Results 718 cases in the case group were further divided into
three subgroups (59 cases in the super preterm group, 186 cases in the extremely preterm group and 473 cases
in the mild preterm group). The control group was 641 cases. There was no signifificant difference between the
case group and the three subgroups compared with the control group in the distribution frequency of alleles G,
A and the proportion of GG, GA, AA genotypes (P>0.05). Logistic regression analysis showed that rs10833
locus of IL-15 gene was not related to the genetic susceptibility of SPTB, and was not related to the genetic
susceptibility of super preterm birth, extremely preterm birth and mild preterm birth (P>0.05). The patients
of case group were further divided into two groups: PPROM group (197 cases) and without PPROM group
(521 cases). The distribution frequency of A allele in PPROM group was lower than that in the control group
(χ2 =5.660, P=0.020), but there was no signifificant difference in the proportion of GG, GA and AA genotypes
in two groups (χ2 =5.510, P=0.060). Logistic regression analysis showed that the A allele of IL-15 rs10833
was the protective allele of PPROM and had dose effect, and GA genotype was the protective genotype of
PPROM. The distribution frequency of A allele in the group without PPROM was higher than that in the
control group (χ2 =4.310, P=0.038), but there was no signifificant statistical difference in the proportion of GG,
GA, AA genotypes in two groups (χ2 =5.340,P=0.070). Logistic regression analysis showed that the A allele
of IL-15 rs10833 was a risk allele without PPROM and had dose effect. The A allele (GA + AA genotype) was a risk genotype of SPTB without PPROM. Conclusion The A allele and GA genotype of rs10833 polymorphism of IL-15 gene can reduce the risk of PPROM.
Key words:  Interleukin-15')" href="#">
收稿日期:  2019-06-27                出版日期:  2020-07-30      发布日期:  2020-07-28      期的出版日期:  2020-07-30
基金资助: 
国家重点研发计划(2018YFC1002701)
通讯作者:  杨晓    E-mail:  yangxiao8156@163.com
引用本文:    
朱丽娜 杨晓 马秀伟 彭薇 王艳.
白细胞介素 -15 基因 rs10833 位点多态性与自发性早产遗传易感性的病例对照研究
[J]. 发育医学电子杂志, 2020, 8(3): 227-233.
Zhu Lina , Yang Xiao , Ma Xiuwei, et al.
A case-control study on the interleukin-15 rs10833 polymorphisms and susceptibility to spontaneous preterm birth
. Journal of Developmental Medicine(Electronic Version), 2020, 8(3): 227-233.
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