CAJ | 학술논문

目的：探讨载脂蛋白（Apo）A1、B、E 基因多态性与激素性股骨头坏死（SONFH）的遗传易感关联性。方法选取45例 SONFH 患者（观察组）和30例应用肾上腺皮质激素治疗半年后未发生 SONFH 的患者（对照组）。提取两组血样品 DNA，采用 SNaPshot 单碱基延伸技术及直接测序法检测 ApoA1（rs1799837）、ApoB（rs693）、ApoB（rs1042031）、ApoE（rs7412）、ApoE（rs429358）位点的单核苷酸多态性，分析其与 SONFH 的关联性。结果观察组中，ApoA1（rs1799837）位点 AG 基因型、A 等位基因以及 ApoB（rs1042031）位点 AG 基因型、A 等位基因的分布频率明显高于对照组（ P ＜0.05），其余位点的基因多态性在两组中分布差异无统计学意义（ P ＞0.05）。ApoA1（rs1799837）位点和 ApoB（rs1042031）位点中，与 AG 基因型相比，GG 基因型 SONFH 的患病风险明显降低（P ＜0.05）；与 A 等位基因相比，G 等位基因 SONFH 的患病风险明显降低（P ＜0.05）。结论 ApoA1（rs1799837）位点与 ApoB（rs1042031位点）的基因多态性可能与 SONFH 的易感性存在关联。
목적：탐토재지단백（Apo）A1、B、E 기인다태성여격소성고골두배사（SONFH）적유전역감관련성。방법선취45례 SONFH 환자（관찰조）화30례응용신상선피질격소치료반년후미발생 SONFH 적환자（대조조）。제취량조혈양품 DNA，채용 SNaPshot 단감기연신기술급직접측서법검측 ApoA1（rs1799837）、ApoB（rs693）、ApoB（rs1042031）、ApoE（rs7412）、ApoE（rs429358）위점적단핵감산다태성，분석기여 SONFH 적관련성。결과관찰조중，ApoA1（rs1799837）위점 AG 기인형、A 등위기인이급 ApoB（rs1042031）위점 AG 기인형、A 등위기인적분포빈솔명현고우대조조（ P ＜0.05），기여위점적기인다태성재량조중분포차이무통계학의의（ P ＞0.05）。ApoA1（rs1799837）위점화 ApoB（rs1042031）위점중，여 AG 기인형상비，GG 기인형 SONFH 적환병풍험명현강저（P ＜0.05）；여 A 등위기인상비，G 등위기인 SONFH 적환병풍험명현강저（P ＜0.05）。결론 ApoA1（rs1799837）위점여 ApoB（rs1042031위점）적기인다태성가능여 SONFH 적역감성존재관련。
Objective To study the correlation between apolipoprotein(Apo)A1,ApoB and ApoE gene poly-morphisms and the susceptibility to the steroid - induced osteonecrosis of the femoral head(SONFH). Methods Forty -five patients with SONFH were enrolled as SONFH group and 30 patients who accepted adrenal cortical hormone for treat-ment in 6 months without SONFH were enrolled as control group. DNA from the blood sample were extracted,and SNaP-shot genotyping analysis and DNA direct sequencing were used to analyze single - nucleotide polymorphisms of ApoA1 (rs1799837),ApoB(rs693),ApoB(rs1042031),ApoE(rs7412)and ApoE(rs429358). Results The frequencies of AG genotype and A allele frequencies in ApoA1(rs1799837),and the frequencies of AG genotype and A allele in ApoB(rs1042031)in SONFH group were significantly higher than those in control group(P < 0. 05). The remaining sites gene polymorphism showed no significantly difference between the two groups(P > 0. 05). In ApoA1(rs1799837) and ApoB(rs1042031),compared to AG genotype,the risk of SONFH of GG genotype was significantly reduced(P <0. 05);compared with A allele,the risk of SONFH of G allele was significantly reduced(P < 0. 05). Conclusion The gene polymorphism of ApoA1(rs1799837)and ApoB(rs1042031)may be related to the susceptibility of SONFH.