目的本研究旨在探讨雌激素受体-α(estrogen receptor-α,ESR1)基因PvuⅡ(rs2234693,C>T)和XbaⅠ(rs9340799,A>G)位点多态性与女童1型糖尿病(type 1 diabetes,T1D)易感性的相关性。方法纳入2016年1月至2019年12月于重庆三峡中心...目的本研究旨在探讨雌激素受体-α(estrogen receptor-α,ESR1)基因PvuⅡ(rs2234693,C>T)和XbaⅠ(rs9340799,A>G)位点多态性与女童1型糖尿病(type 1 diabetes,T1D)易感性的相关性。方法纳入2016年1月至2019年12月于重庆三峡中心医院就诊的86例新发T1D女性患儿作为研究对象,并选择同期于本院参加健康体检的100例健康女童作为健康对照。测定研究对象的身高、体重和相关代谢指标;采用毛细管电泳和片段分析(SNaPshot)技术对ESR1基因进行分型;采用实时荧光定量聚合酶链式反应(RT-PCR)法检测ESR1基因的mRNA表达量。结果基因分型结果显示T1D组和对照组的PvuII位点基因型分布差异有统计学意义(χ^2=11.672,P=0.003),而XbaI位点基因型分布差异无统计学意义(χ^2=5.433,P=0.066),T1D组的PvuII位点T等位基因频率和XbaI位点G等位基因频率均显著高于对照组(PvuII T vs C:OR=1.909,95%CI=1.261~2.892,P=0.002;XbaI G vs A:OR=1.815,95%CI=1.112~2.961,P=0.016)。携带PvuII T等位基因的T1D患者糖化血红蛋白(HbA1c)和总胆固醇(total cholesterol,TC)水平显著高于携带CC基因型的患者(P均<0.05),携带XbaI G等位基因的T1D患者低密度脂蛋白(LDL-C)和TC水平显著高于携带AA基因型的患者(P均<0.05)。T1D患者的ESR1基因mRNA相对表达量显著低于对照组(0.42±0.05 vs 1.04±0.16,t=6.227,P<0.001)。PvuII位点CC、CT和TT基因型的T1D患者ESR1基因mRNA相对表达量差异有统计学意义(F=5.823,P<0.001),XbaI位点AA、AG和GG基因型的T1D患者ESR1基因mRNA相对表达量差异也有统计学意义(F=5.415,P<0.001)。结论ESR1基因PvuII和XbaI位点多态性可通过影响基因表达,参与到女童T1D的发生、发展中。展开更多
Background A number of studies have examined the association between estrogen receptor alpha （ESR-a） gene polymorphisms and bone mineral density （BMD）, but previous studies of ESR-a gene Xbal （rs9340799） and Pvu...Background A number of studies have examined the association between estrogen receptor alpha （ESR-a） gene polymorphisms and bone mineral density （BMD）, but previous studies of ESR-a gene Xbal （rs9340799） and Pvull （rs2234693） polymorphisms have been hampered by small sample size, regional restrictions and inconclusive results. Thus a meta-analysis is needed to assess their pooled effects. Methods This study reviewed all published articles indexed in Pubmed using the keywords in the title or abstract. All data were extracted independently by two reviewers using a standard form, the studies were meta-analyzed and minor discrepancies were resolved by authors＇ discussion. Results Twenty seven eligible studies involving 8467 women and 2032 men were identified. The Xbal and Pvull polymorphisms were significantly associated with BMD of the lumbar spine. XX and PP homozygotes had a protective effect in comparison with carriers of the x and p alleles, the effects were more significant in premenopausal women or Western women. At the femoral neck, the results were different. XX served as a protective factor in postmenopausal women, Western women, Western postmenopausal women, and men, while PP was likely to serve as a risk factor in Eastern women, Eastern postmenopausal women, and men. Conclusions The Xbal polymorphism is correlated to BMD at diverse skeletal sites. PP had a protective role for the lumbar spine but might be a risk factor for the femoral neck.展开更多
文摘目的本研究旨在探讨雌激素受体-α(estrogen receptor-α,ESR1)基因PvuⅡ(rs2234693,C>T)和XbaⅠ(rs9340799,A>G)位点多态性与女童1型糖尿病(type 1 diabetes,T1D)易感性的相关性。方法纳入2016年1月至2019年12月于重庆三峡中心医院就诊的86例新发T1D女性患儿作为研究对象,并选择同期于本院参加健康体检的100例健康女童作为健康对照。测定研究对象的身高、体重和相关代谢指标;采用毛细管电泳和片段分析(SNaPshot)技术对ESR1基因进行分型;采用实时荧光定量聚合酶链式反应(RT-PCR)法检测ESR1基因的mRNA表达量。结果基因分型结果显示T1D组和对照组的PvuII位点基因型分布差异有统计学意义(χ^2=11.672,P=0.003),而XbaI位点基因型分布差异无统计学意义(χ^2=5.433,P=0.066),T1D组的PvuII位点T等位基因频率和XbaI位点G等位基因频率均显著高于对照组(PvuII T vs C:OR=1.909,95%CI=1.261~2.892,P=0.002;XbaI G vs A:OR=1.815,95%CI=1.112~2.961,P=0.016)。携带PvuII T等位基因的T1D患者糖化血红蛋白(HbA1c)和总胆固醇(total cholesterol,TC)水平显著高于携带CC基因型的患者(P均<0.05),携带XbaI G等位基因的T1D患者低密度脂蛋白(LDL-C)和TC水平显著高于携带AA基因型的患者(P均<0.05)。T1D患者的ESR1基因mRNA相对表达量显著低于对照组(0.42±0.05 vs 1.04±0.16,t=6.227,P<0.001)。PvuII位点CC、CT和TT基因型的T1D患者ESR1基因mRNA相对表达量差异有统计学意义(F=5.823,P<0.001),XbaI位点AA、AG和GG基因型的T1D患者ESR1基因mRNA相对表达量差异也有统计学意义(F=5.415,P<0.001)。结论ESR1基因PvuII和XbaI位点多态性可通过影响基因表达,参与到女童T1D的发生、发展中。
基金This work was supported by National Natural Science Foundation of China （No. 30973046）.
文摘Background A number of studies have examined the association between estrogen receptor alpha （ESR-a） gene polymorphisms and bone mineral density （BMD）, but previous studies of ESR-a gene Xbal （rs9340799） and Pvull （rs2234693） polymorphisms have been hampered by small sample size, regional restrictions and inconclusive results. Thus a meta-analysis is needed to assess their pooled effects. Methods This study reviewed all published articles indexed in Pubmed using the keywords in the title or abstract. All data were extracted independently by two reviewers using a standard form, the studies were meta-analyzed and minor discrepancies were resolved by authors＇ discussion. Results Twenty seven eligible studies involving 8467 women and 2032 men were identified. The Xbal and Pvull polymorphisms were significantly associated with BMD of the lumbar spine. XX and PP homozygotes had a protective effect in comparison with carriers of the x and p alleles, the effects were more significant in premenopausal women or Western women. At the femoral neck, the results were different. XX served as a protective factor in postmenopausal women, Western women, Western postmenopausal women, and men, while PP was likely to serve as a risk factor in Eastern women, Eastern postmenopausal women, and men. Conclusions The Xbal polymorphism is correlated to BMD at diverse skeletal sites. PP had a protective role for the lumbar spine but might be a risk factor for the femoral neck.
