摘要
目的 探讨维生素D受体 (VDR)基因多态性与中国人自身免疫性肝炎 (AIH)和原发性胆汁性肝硬化 (PBC)发病的相关性。方法 采用限制性长度多态性分析 (restrictionfragmentlengthpolymorphismanalysis ,RFLP)法分析 4 9例AIH、5 8例PBC患者外周血单核细胞基因组DNAVDR外显子2和外显子 7～外显子 9处限制性内切酶FokI、BsmI、ApaI和TaqI基因多态性 ,并与 16 0例正常对照组比较。结果 FokI基因多态性与AIH相关 ,AIH患者ff表型携带者明显高于正常对照组 (34 7%vs18 8% ,P =0 0 19) ;BsmI基因多态性与PBC相关 ,PBC患者携带Bb表型者较正常人明显降低(5 2 %vs 17 5 % ,P =0 0 2 1) ,而bb表型者明显升高 (94 8%vs 80 6 % ,P =0 0 1)。结论 研究结果表明VDR基因多态性与中国人AIH、PBC发病间存在基因连锁。虽然VDR基因表型分布不同 ,但不同人种 ,包括高加索人均存在相似的基因连锁。
Objective To study the association between the polymorphisms of vitamin D receptor (VDR) gene and autoimmune liver diseases and (AIH) and primary biliary cirrhosis (PBC) in Chinese. Methods PCR-RELP was used to investigate the polymorphisms in exon 2, and exon 7 to exon 9 of VDR among 49 AIH patients, 58 PBC patients, and 160 healthy controls, all Chinese. VDR polymorphisms were assessed by FokI, BsmI, ApaI, and TaqI endonucleases restriction fragment length polymorphism analysis after specific polymerase chain reaction (PCR) amplification. Results The distribution of VDR gene polymorphism in Chinese was similar to those in Koreans and Japanese, and different from those in the Germans and Spaniards. The percentage of ff phenotype carriers was significantly higher in the AIH patients than in the healthy controls (34.7% vs. 48.1%, χ2=5.47, P=0.019) and the percentage of Ff phenotype carriers was lower in the AIH patients than in the healthy controls (34.7% vs. 48.1%, P=0.057). The percentage of Bb phenotype carriers was significantly lower in the PBC patients than in the healthy controls (5.2% vs. 17.5%, P=0.021) and. the percentage of bb phenotype carriers was significantly higher in the PBC patients than in the healthy controls (94.8% vs. 80.6%, χ2=6.52, P=0.01). We also detected a significant association of the BsmI polymorphisms in PBC patients in comparison with controls (P=0.01). Furthermore we found the difference in the FokI, BsmI, ApaI, and TaqI genetype distribution between Chinese health controls and Caucasian health controls. Conclusion There is a significant association between FokI polymorphism and AIH and a significant association between the BsmI polymorphisms and PBC in Chinese.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2003年第21期1852-1855,共4页
National Medical Journal of China
