维生素D受体ApaⅠ和TaqⅠ基因多态性与T2DM合并胫前皮肤黑斑的相关性  

Association of vitamin D receptor Apa Ⅰ and Taq Ⅰ gene polymorphisms with pigmented pretibial patches in T2DM patients

作　　者：苏文凌[1,2] 邱明才[1] 戴斌[1] 张鹏[1] 汤绍芳[1] 

机构地区：[1]天津市医科大学总医院内分泌科,300052 [2]天津市胸科医院内分泌科

出　　处：《中华医学杂志》2015年第30期2451-2454,共4页National Medical Journal of China

摘　　要：目的 探讨维生素D受体（VDR） Apa Ⅰ和Taq Ⅰ基因多态性与2型糖尿病（T2DM）合并胫前皮肤黑斑的关系.方法 2004年6月至2006年1月于天津医科大学总医院住院的233例T2DM患者,根据胫前皮肤有无黑斑将其分为有斑组（106例）和无斑组（127例）.用聚合酶链反应-限制性片段长度多态性分析VDR Apa Ⅰ和Taq Ⅰ基因型.本研究通过天津医科大学总医院伦理委员会批准（200402）.结果 T2DM有斑组和无斑组VDR Apa Ⅰ基因型和等位基因频率差异均无统计学意义（均P ＞0.05）;T2DM有斑组VDR Taq Ⅰ基因型TT的频率[95％ （101/106）]高于无斑组的87％（110/127）,基因型Tt＋ tt的频率[5％（5/106）]低于无斑组的13％（17/127）,均P＜0.05;T2DM有斑组VDR Taq Ⅰ等位基因T的频率[98％ （207/212）]高于无斑组的93％（237/254）,等位基因t的频率[2％（5/212）]低于无斑组的7％（17/254）,均P＜0.05.结论 VDR Taq Ⅰ基因多态性可能为天津地区汉族T2DM合并胫前皮肤黑斑的危险性遗传标志物,而VDR Apa Ⅰ基因多态性可能与T2DM合并胫前皮肤黑斑无关.Objective To explore the association of vitamin D receptor Apa Ⅰ and Taq Ⅰ gene polymorphisms with pigmented pretibial patches （PPPs） in type 2 diabetes mellitus （T2DM） patients.Methods A total of 233 patients with T2DM were enrolled.Patients were assigned to PPPs group （n =106） or non-PPPs （n =127） according to the presence of PPPs.Allelic and genotypic comparisons of VDR-Taq Ⅰ and VDR-Apa Ⅰ between the different groups were evaluated by polymerase chain reactionrestriction fragment length polymorphism （PCR-RFLP）.Results The genotype and allele gene frequency were similar at Apa Ⅰ in two groups （P 〉 0.05）.The PPPs group showed a higher frequency of TT allele at Taq Ⅰ in the T2DM （95%） when compared to that of non-PPPs group （87%）,while the frequency of Tt and tt allele were lower in PPPs group than non-PPPs group in T2DM （5% vs 13%,all P 〈 0.05）.The frequency of T allele were higher at Taq Ⅰ in PPPs group （98%） than non-PPPs group （93%） in T2DM,while PPPs had a lower frequency of t allele （2% vs 7%,all P 〈 0.05）.Conclusion It seems that gene polymorphisms of VDR-Taq Ⅰ,not VDR-Apa Ⅰ,contributes to the risk of PPPs in T2DM patients in the Han nationality in Tianjin area.

关 键 词：受体  骨化三醇 多态现象  遗传 糖尿病  2型 胫前皮肤黑斑 

分 类 号：R758.5[医药卫生—皮肤病学与性病学] R587.1[医药卫生—临床医学]