[1]汤小峰,蒋艺兰,朱 蓓.糖尿病性骨质疏松患者雌激素受体α 基因XbaI（rs9340799）SNP 和HbA1c 水平交互作用与疾病易感性分析[J].现代检验医学杂志,2023,38(01):38-43.[doi:10.3969/j.issn.1671-7414.2023.01.008]
　TANG Xiao-feng,JIANG Yi-lan,ZHU Bei.Analysis of Interaction between Estrogen Receptorα Gene XbaI (rs9340799) SNP and HbA1c Level and Disease Susceptibility in Patients with Diabetes Osteoporosis[J].Journal of Modern Laboratory Medicine,2023,38(01):38-43.[doi:10.3969/j.issn.1671-7414.2023.01.008]
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糖尿病性骨质疏松患者雌激素受体α 基因XbaI（rs9340799）SNP 和HbA1c 水平交互作用与疾病易感性分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第38卷
期数:
2023年01期
页码:
38-43
栏目:
论著
出版日期:
2023-01-15

文章信息/Info

Title:
Analysis of Interaction between Estrogen Receptorα Gene XbaI (rs9340799) SNP and HbA1c Level and Disease Susceptibility in Patients with Diabetes Osteoporosis
文章编号:
1671-7414（2023）01-038-06
作者:
汤小峰; 蒋艺兰; 朱 蓓
（如皋市人民医院内分泌科，江苏南通 226500）
Author(s):
TANG Xiao-feng;  JIANG Yi-lan ;  ZHU Bei
（Department of Endocrinology, Rugao People’s Hospital, Jiangsu Nantong 226500, China）
关键词:
雌激素受体α 基因; 糖化血红蛋白; 糖尿病性骨质疏松; 单核苷酸多态性; 交互作用
分类号:
R587.2；R392.11
DOI:
10.3969/j.issn.1671-7414.2023.01.008
文献标志码:
A
摘要:
目的 探讨糖尿病性骨质疏松症（diabetic osteoporosis，DO）患者雌激素受体α(estrogen receptor α, ERα) 基因XbaI（rs9340799）单核苷酸多态性（single nucleotide polymorphism, SNP）和糖化血红蛋白(glycosylated hemoglobinA1c，HbA1c) 水平交互作用与疾病易感性的关系。方法 选择2019 年2 月～ 2021 年11 月于如皋市人民医院就诊的DO 患者117 例，T2DM 患者112 例和108 例健康体检者（对照组）。采用高效液相层析法(high pressure liquidchromatography, HPLC) 测定三组人群的HbA1c 水平，并通过双脱氧末端终止法（Sanger 法）检测三组人群ERa 基因XbaI（rs9340799）SNP。采用多因素Logistic 回归模型分析DO 发生的危险因素，估算ERa 基因XbaI39.32SNP 和HbA1c 水平与DO 发病风险的调整比值比（odds ratio, OR）及95% 置信区间（95% confidence interval, 95%CI），分析XbaI SNP 与HbA1c 水平的交互作用。结果 对照组、T2DM 组和DO 组患者HbA1c 水平分别为5.07%±0.85%，7.94%±1.32% 和9.23%±1.40%，差异有统计学意义（F=26.671, P ＜ 0.05）。DO 组、T2DM 组和对照组AA 基因频率（11.11%，33.93% 和46.30%）、AG 基因频率（49.57%，39.28% 和33.33%）、GG 基因频率（39.32%，26.79% 和20.37%），差异均有统计学意义（χ2=37.174, 10.600, 14.307, 均P ＜ 0.05）。DO 组、T2DM 组和对照组等位基因A 基因频率（36.75%, 61.61% 和74.07%）、等位基因G 基因频率（63.25%, 38.39% 和25.93%）差异均有统计学意义（均χ2=36.305，P ＜ 0.001）。Logistic 回归分析结果显示，HbA1c 水平和ERa 基因XbaI（AG/GG）与DO 的发生显著相关（P ＜ 0.05）。单纯6.5% ≤ HbA1c ＜ 9.0% 的ORe1 为6.231，单独携带XbaI（AG）型的ORg1 为5.384，二者同时存在时交互作用ORe1g1 为33.978，交互系数γ=βe1g1/βe1 ＞ 1，ORe1g1 ＞ ORe1×ORg1 为超相乘模型。6.5% ≤ HbA1c ＜ 9.0%和XbaI（AG/GG）、HbA1c ≥ 9.0% 和XbaI（AG/GG）均存在正向交互作用（均γ ＞ 1）。结论 携带XbaI（AG）和XbaI（GG）基因型的个体属DO 高危人群，这些基因型和HbA1c 水平的交互作用促进了DO 的发生发展，临床可通过控制HbA1c 水平以及基因调控达到预防DO 的目的。
Abstract:
Objective To investigate the interaction between estrogen receptor alpha (ERa) single nucleotide polymorphism (SNP) and glycosylated hemoglobin A1c (HbA1c) level and the relationship of susceptibility to diabetic osteoporosis (DO). Method A total of 117 patients with DO, 112 patients with type 2 diabetes mellitus (T2DM) were selected, and 108 healthy subjects were selected as the control group. The glycated hemoglobin (HbA1c) levels of the three groups was determined by high pressure liquid chromatography （HPLC), and the ERα gene XbaI (rs9340799) SNP was detected by dideoxy terminal termination method. Multivariate Logistic regression model was used to analyze the risk factors for the occurrence of DO, and the adjusted odds ratio (OR) and 95% confidence interval (95% CI) of the levels of ERa gene XbaI SNP and HbA1c and the risk of DO incidence were estimated. Interaction of XbaI SNPs with HbA1c levels. Results The level of HbA1c in control group, T2DM group and DO group were 5.07%±0.85%, 7.94%±1.32% and 9.23%±1.40%，respectively，and the difference was statistically significant (F=26.671, P ＜ 0.05). The frequencies of AA gene(11.11%, 33.93% and 46.30%). AG gene (49.57%, 39.28% and 33.33%), and GG gene (39.32%, 26.79%, 20.37%), in the three groups were statistically significant (χ2=37.174, 10.600, 14.307, all P ＜ 0.05). The distribution of gene A (36.75%, 61.61%, 74.07%) and gene G (63.25%, 38.29%, 25.93%), in the three groups were statistically significant (all χ2=36.305, P ＜ 0.001). Logistic regression analysis showed that HbA1c level and ERα gene XbaI (AG/GG) were significantly correlated with DO (P ＜ 0.05). ORe1 with pure 6.5% ≤ HbA1c<9.0% was 6.231, and ORg1 with XbaI (AG) type alone was 5.384. The interaction ORe1g1 was 33.978, when the two were present at the same time, and the interaction coefficient γ=βe1g1/βe1 ＞ 1, ORe1g1 ＞ ORe1×ORg1 was a super multiplication model. 6.5% ≤ HbA1c ＜ 9.0% and XbaI(AG/GG), HbA1c ≥ 9.0% and XbaI (AG/GG) all had positive interaction (all γ> 1). Conclusion Individuals carrying XbaI (AG) and XbaI (GG) genotypes belong to the high-risk group of DO. The interaction between these genotypes and HbA1c levels promotes the occurrence and development of DO. Clinically, the purpose of preventing DO could be achieved by controlling HbA1c levels and gene regulation.

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备注/Memo

备注/Memo:
作者简介：汤小峰（1984-），男，本科，主治医师，研究方向：糖尿病与肥胖，E-mail：Xiaojing1987623@163.com。
通讯作者：蒋艺兰（1972-），女，主任医师，研究方向：1 型糖尿病免疫异常及干预治疗，E-mail：jylhwd@163.com。
更新日期/Last Update: 2023-01-15