云南地区汉族ABCB1基因多态性与糖皮质激素诱导的骨质疏松的相关性研究
发布时间：2019-02-27 09:23
【摘要】：目的：探讨应用糖皮质激素(glucocorticoid, GC)治疗患者ABCB1基因多态性及临床指标与骨密度的相关性,寻找GC诱导骨质疏松发生的危险因素及预测指标。方法：收集77例正在接受GC治疗的患者作为GC组及116名健康者作为对照组。根据骨密度Z值将GC组分为骨量正常亚组及骨质疏松亚组。应用双能X线吸收仪测定腰椎骨密度,收集性别、年龄、体重指数(body mass index BMI)、患病时间、GC应用时间等临床资料。应用PCR-RFLP方法分析ABCB1基因C3435T、C1236T、G2677T/A位点的基因多态性。分析以上因素与GC诱导的骨质疏松之间的相关性。结果： (1)GC组骨质疏松患者占32.47%,对照组骨质疏松人数占11.21%,差异有统计学意义(P0.01)；GC组L1-L4的BMI)平均值1.03±0.15,对照组L1-L4的BMD平均值1.13±0.14,差异有统计学意义(P0.01)。(2)在GC内,骨质疏松亚组患者GC服用时间及原发病病程高于骨量正常亚组,差异有统计学意义(P0.01)。(3) ABCB1基因C1236T、G2677T/A、C3435T位点基因多态性在NOP亚组和OP亚组间的分布频率差异无统计学意义；C1236T-G2677T/A-C3435T构成的常见单倍体型TTT、TGC、CGC、CAC在NOP亚组和OP亚组间分布频率差异无统计学意义。(4)ABCB1基因C1236T、G2677T/A、C3435T位点各基因型间L1-L4的BMD、Z值差异无统计学意义。(5)ABCB1基因C1236T、G2677T/A、C3435T位点有一定连锁不平衡；G2677T/A-C3435T两点存在高度连锁不平衡D’=0.81,r2=0.48; C1236T-C3435T、C1236T-G2677T/A的连锁不平衡系数分别为D’=0.72、r2=0.19和D'=0.64、r2=0.16。从C1236T-G2677T/A-C3435T构建的单倍体型结果来看,TTT、TGC、CGC和CAC单倍体型较常见。(6)RA组、PNS组3个SNPs位点基因多态性与对照组比较,差异无统计学意义。结论：(1)自身免疫性疾病及PNS患者服用GC治疗,其骨质疏松的发生较对照组人高,且与GC服用时间相关,可能与原发病病程有关。(2) ABCB1 C3435T、 G2677T/A、C1236T位点基因多态性与GC诱导的骨质疏松无关；C1236T-G2677T/A-C3435T构建的常见单倍体型TTT、TGC、CGC、CAC与GC诱导的骨质疏松无关。(3)ABCB1基因位点C3435T、C1236T、G2677T/A基因型多态性与PNS及RA患病易感性无关。
[Abstract]:Aim: to investigate the relationship between ABCB1 gene polymorphism, clinical markers and bone mineral density (BMD) in patients treated with glucocorticoid (glucocorticoid, GC), and to find out the risk factors and predictors of osteoporosis induced by GC. Methods: 77 patients undergoing GC treatment were collected as GC group and 116 healthy persons as control group. According to bone mineral density (BMD) Z value, GC group was divided into normal bone mass subgroup and osteoporosis subgroup. Bone mineral density (BMD) of lumbar spine was measured by dual energy X-ray absorptiometry. Clinical data such as sex, age, time of onset of body mass index (body mass index BMI),) and time of GC application were collected. The polymorphism of ABCB1 gene C3435T, C1236T and G2677T was analyzed by PCR-RFLP. To analyze the correlation between the above factors and GC-induced osteoporosis. Results: (1) the number of osteoporosis patients in GC group was 32.47%, and that in control group was 11.21%, the difference was statistically significant (P0.01). The BMI of L1-L4 in GC group was 1.03 卤0.15, and the BMD of L1-L4 in control group was 1.13 卤0.14, the difference was statistically significant (P0.01). (2) in GC. The duration of taking GC and the course of primary disease in osteoporosis subgroup were significantly higher than those in normal bone mass subgroup (P0.01). (3), ABCB1 gene C1236T, G2677T, the difference was statistically significant (P0.01). (3). There was no significant difference in the frequency of C3435T polymorphism between NOP subgroup and OP subgroup. There was no significant difference in the frequency of haplotype TTT,TGC,CGC,CAC of C1236T-G2677T/A-C3435T between NOP subgroup and OP subgroup. (4) ABCB1 gene C1236T, G2677T / A, L1-L4 BMD, among genotypes of C3435T locus. (5) there were linkage disequilibrium at C1236T, G2677T and C3435T loci of ABCB1 gene. The linkage disequilibrium coefficients of C1236T, C1236T and C1236T / G2677T were 0.72, 0.19 and 0.64, respectively, and the linkage disequilibrium coefficients of C1236T / C3435T, C1236T / G2677T / G2677T/A-C3435T were 0.64, 0.64 and 0.64, respectively. Haplotypes constructed by C1236T-G2677T/A-C3435T showed that haplotypes of TTT,TGC,CGC and CAC were more common. (6) there was no significant difference in polymorphism of three SNPs loci between RA group and PNS group compared with control group. Conclusion: (1) the occurrence of osteoporosis in patients with autoimmune diseases and PNS treated with GC is higher than that in the control group, and it is related to the duration of GC administration, which may be related to the course of primary disease. (2) ABCB1 C3435T, G2677T / A, There was no relationship between C1236T gene polymorphism and GC-induced osteoporosis. The common haplotype TTT,TGC,CGC,CAC constructed by C1236T-G2677T/A-C3435T was not associated with GC-induced osteoporosis. (3) the ABCB1 gene loci C3435T, C1236T, G2677T genotype polymorphism were not associated with the susceptibility to PNS and RA.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R580
本文编号：2431327
[Abstract]:Aim: to investigate the relationship between ABCB1 gene polymorphism, clinical markers and bone mineral density (BMD) in patients treated with glucocorticoid (glucocorticoid, GC), and to find out the risk factors and predictors of osteoporosis induced by GC. Methods: 77 patients undergoing GC treatment were collected as GC group and 116 healthy persons as control group. According to bone mineral density (BMD) Z value, GC group was divided into normal bone mass subgroup and osteoporosis subgroup. Bone mineral density (BMD) of lumbar spine was measured by dual energy X-ray absorptiometry. Clinical data such as sex, age, time of onset of body mass index (body mass index BMI),) and time of GC application were collected. The polymorphism of ABCB1 gene C3435T, C1236T and G2677T was analyzed by PCR-RFLP. To analyze the correlation between the above factors and GC-induced osteoporosis. Results: (1) the number of osteoporosis patients in GC group was 32.47%, and that in control group was 11.21%, the difference was statistically significant (P0.01). The BMI of L1-L4 in GC group was 1.03 卤0.15, and the BMD of L1-L4 in control group was 1.13 卤0.14, the difference was statistically significant (P0.01). (2) in GC. The duration of taking GC and the course of primary disease in osteoporosis subgroup were significantly higher than those in normal bone mass subgroup (P0.01). (3), ABCB1 gene C1236T, G2677T, the difference was statistically significant (P0.01). (3). There was no significant difference in the frequency of C3435T polymorphism between NOP subgroup and OP subgroup. There was no significant difference in the frequency of haplotype TTT,TGC,CGC,CAC of C1236T-G2677T/A-C3435T between NOP subgroup and OP subgroup. (4) ABCB1 gene C1236T, G2677T / A, L1-L4 BMD, among genotypes of C3435T locus. (5) there were linkage disequilibrium at C1236T, G2677T and C3435T loci of ABCB1 gene. The linkage disequilibrium coefficients of C1236T, C1236T and C1236T / G2677T were 0.72, 0.19 and 0.64, respectively, and the linkage disequilibrium coefficients of C1236T / C3435T, C1236T / G2677T / G2677T/A-C3435T were 0.64, 0.64 and 0.64, respectively. Haplotypes constructed by C1236T-G2677T/A-C3435T showed that haplotypes of TTT,TGC,CGC and CAC were more common. (6) there was no significant difference in polymorphism of three SNPs loci between RA group and PNS group compared with control group. Conclusion: (1) the occurrence of osteoporosis in patients with autoimmune diseases and PNS treated with GC is higher than that in the control group, and it is related to the duration of GC administration, which may be related to the course of primary disease. (2) ABCB1 C3435T, G2677T / A, There was no relationship between C1236T gene polymorphism and GC-induced osteoporosis. The common haplotype TTT,TGC,CGC,CAC constructed by C1236T-G2677T/A-C3435T was not associated with GC-induced osteoporosis. (3) the ABCB1 gene loci C3435T, C1236T, G2677T genotype polymorphism were not associated with the susceptibility to PNS and RA.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R580
【参考文献】
相关期刊论文 前1条
1 王培;刘仁慧;王秀娟;;糖皮质激素抵抗机制的研究进展[J];中国实验方剂学杂志;2011年06期
，本文编号：2431327
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