云南地區(qū)漢族ABCB1基因多態(tài)性與糖皮質(zhì)激素誘導的骨質(zhì)疏松的相關性研究
發(fā)布時間：2019-02-27 09:23
【摘要】：目的：探討應用糖皮質(zhì)激素(glucocorticoid, GC)治療患者ABCB1基因多態(tài)性及臨床指標與骨密度的相關性,尋找GC誘導骨質(zhì)疏松發(fā)生的危險因素及預測指標。方法：收集77例正在接受GC治療的患者作為GC組及116名健康者作為對照組。根據(jù)骨密度Z值將GC組分為骨量正常亞組及骨質(zhì)疏松亞組。應用雙能X線吸收儀測定腰椎骨密度,收集性別、年齡、體重指數(shù)(body mass index BMI)、患病時間、GC應用時間等臨床資料。應用PCR-RFLP方法分析ABCB1基因C3435T、C1236T、G2677T/A位點的基因多態(tài)性。分析以上因素與GC誘導的骨質(zhì)疏松之間的相關性。結果： (1)GC組骨質(zhì)疏松患者占32.47%,對照組骨質(zhì)疏松人數(shù)占11.21%,差異有統(tǒng)計學意義(P0.01)；GC組L1-L4的BMI)平均值1.03±0.15,對照組L1-L4的BMD平均值1.13±0.14,差異有統(tǒng)計學意義(P0.01)。(2)在GC內(nèi),骨質(zhì)疏松亞組患者GC服用時間及原發(fā)病病程高于骨量正常亞組,差異有統(tǒng)計學意義(P0.01)。(3) ABCB1基因C1236T、G2677T/A、C3435T位點基因多態(tài)性在NOP亞組和OP亞組間的分布頻率差異無統(tǒng)計學意義；C1236T-G2677T/A-C3435T構成的常見單倍體型TTT、TGC、CGC、CAC在NOP亞組和OP亞組間分布頻率差異無統(tǒng)計學意義。(4)ABCB1基因C1236T、G2677T/A、C3435T位點各基因型間L1-L4的BMD、Z值差異無統(tǒng)計學意義。(5)ABCB1基因C1236T、G2677T/A、C3435T位點有一定連鎖不平衡；G2677T/A-C3435T兩點存在高度連鎖不平衡D’=0.81,r2=0.48; C1236T-C3435T、C1236T-G2677T/A的連鎖不平衡系數(shù)分別為D’=0.72、r2=0.19和D'=0.64、r2=0.16。從C1236T-G2677T/A-C3435T構建的單倍體型結果來看,TTT、TGC、CGC和CAC單倍體型較常見。(6)RA組、PNS組3個SNPs位點基因多態(tài)性與對照組比較,差異無統(tǒng)計學意義。結論：(1)自身免疫性疾病及PNS患者服用GC治療,其骨質(zhì)疏松的發(fā)生較對照組人高,且與GC服用時間相關,可能與原發(fā)病病程有關。(2) ABCB1 C3435T、 G2677T/A、C1236T位點基因多態(tài)性與GC誘導的骨質(zhì)疏松無關；C1236T-G2677T/A-C3435T構建的常見單倍體型TTT、TGC、CGC、CAC與GC誘導的骨質(zhì)疏松無關。(3)ABCB1基因位點C3435T、C1236T、G2677T/A基因型多態(tài)性與PNS及RA患病易感性無關。
[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 鹵0.15, and the BMD of L1-L4 in control group was 1.13 鹵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.
【學位授予單位】：昆明醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R580
本文編號：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 鹵0.15, and the BMD of L1-L4 in control group was 1.13 鹵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.
【學位授予單位】：昆明醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R580
【參考文獻】
相關期刊論文 前1條
1 王培;劉仁慧;王秀娟;;糖皮質(zhì)激素抵抗機制的研究進展[J];中國實驗方劑學雜志;2011年06期
，本文編號：2431327
本文鏈接：http://sikaile.net/yixuelunwen/nfm/2431327.html
最近更新
教材專著
