摘要
目的探讨血管紧张素转换酶（ＡＣＥ）基因插入／缺失（Ｉ／Ｄ）多态性与Ⅱ型糖尿病（ＮＩＤＤＭ）及其肾脏合并症发病的关系。方法应用聚合酶链反应（ＰＣＲ）扩增技术检测了１０９例ＮＩＤＤＭ患者及１５５例健康对照者的ＡＣＥ基因Ｉ／Ｄ多态性。结果位于ＡＣＥ基因第１６内含子的Ｉ／Ｄ多态性经ＰＣＲ技术扩增后分为三种基因型：纯合子缺失型（ＤＤ），纯合子插入型（Ｉ）及杂合子插入／缺失型（ＩＤ）。１０９例ＮＩＤＤＭ患者与１５５例正常对照组之间基因型及等位基因频率差异均无显著意义；ＮＩＤＤＭ合并肾病者（ＤＮ）的基因型与未合并肾病者无显著性差异，但等位基因则有显著性差异（Ｄ、Ｉ等位基因为０４５和０５５对０３０和０７０）（Ｐ＜００２）；ＮＩＤＤＭ病程≤１年即伴有肾病者与病程≥５年仍无肾病者比较，ＤＤ型及Ｄ等位基因均显著高于无肾病组（Ｐ均＜００５），后者以Ｉ型及Ｉ等位基因占绝对优势。结论ＡＣＥ基因多态性与ＮＩＤＤＭ发病无关，而与其肾脏合并症则明显相关，ＤＤ型是ＤＮ的易感基因，而Ｉ型则为其保护基因。
Objective To investigate the relationship between insertion/deletion
(I/D) polymorphism of ACE gene and NIDDM and its renal complication. ZMethods Polymerase
chain reaction (PCR) was used to determine the genotypes for an I/D polymorphism in intron 16
of the ACE gene in 109 cases of NIDDM and 155 healthy subjects as controls. Results The I/D
polymorphism in intron 16 of the ACE gene was categorized into three genotypes:two deletion
alleles (genotype DD),heterozygous alleles (genotype ID),and two insertion alleles (genotype
II).The genotype pattern of DD,ID,II and the D allele were similar between 109 cases of NIDDM
and 155 control subjects (20%,35%,45%,38% vs 20%,46%,34%,43%,P>005).Although the
distribution of genotype was not significantly different,there was a significant difference in allele
frequencies between 55 with and 54 without diabetic nephropathy patients (the alleles D and I
were 045,055 vs 030,070,P<002).DD genotype and D allele were more common in patients with
diabetic nephropathy which the duration of diabetes was less than 1 year when compared with
those without diabetic nephropathy with over 5 years duration of diabetes (028,046 vs 010,015,
P<005).The patients without diabetic nephropathy with over 5 years duration of diabetes were
predominant over I allele (085) and genotype II(080). Conclusion The I/D polymorphism of the
ACE gene is not associated with susceptibility to NIDDM,but may be a predictive factor for
early-onset diabetic nephropathy in NIDDM.The II genotype is a marker of reduced risk for
diabetic nephropathy, and DD is a risk factor in a Chinese NIDDM population.
出处
《中华肾脏病杂志》
CAS
CSCD
北大核心
1999年第1期36-39,共4页
Chinese Journal of Nephrology
关键词
糖尿病
并发症
肾疾病
ACE
基因多态性
NIDDM
ngiotensinconverting enzymeGene polymorphism Noninsulin dependent diabetes
mellitus Diabetic nephropathy
