Meng N, Zhang Y, Ma J, Li H, Zhou F, Qu Y
Department of Ophthalmology, Qilu Hospital of Shandong University, Jinan, China.
Eye (Lond). 2015 Feb;29(2):266-71. doi: 10.1038/eye.2014.254. Epub 2014 Oct 31.
To examine the association of Angiotensin I converting enzyme 2 (ACE2) gene polymorphisms and retinopathy in a Chinese type 2 diabetes mellitus (T2DM) cohort.
A total of 743 T2DM participants were involved in this study including 408 female and 335 male cases. Female cases were divided into two groups: diabetes without retinopathy (DNR group, n=171) and with retinopathy (DR group, n=237), the latter was further subclassified into nonproliferative DR (NPDR group, n=121) and proliferative DR (PDR group, n=116). Male cases were assigned to DNR group (n=153) and DR group (n=182) which was further grouped into NPDR group (n=86) and PDR group (n=96). Two single nucleotide polymorphisms (SNPs; rs2074192 and rs714205) in ACE2 gene were genotyped.
In female cases, the frequency of genotypes TT in rs2074192 and CC in rs714205 were higher in DR and PDR group than in DNR group (P<0.05). The frequency of alleles T in SNP rs2074192 and C in SNP rs714205 was higher in DR group (P<0.05) and PDR group (P<0.05) than in DNR group. The frequency of allele T in SNP rs2074192 was higher in PDR group (P=0.04) than in NPDR group. The frequency of haplotype TC and CG was higher in DR and PDR groups, respectively (P<0.05). No positive results were found in male cases.
Our results revealed that SNPs rs2074192 and rs714205 in ACE2 gene were associated with the susceptibility of DR and PDR.
在中国2型糖尿病（T2DM）队列中研究血管紧张素I转换酶2（ACE2）基因多态性与视网膜病变的关联。
本研究共纳入743例T2DM患者，其中女性408例，男性335例。女性患者分为两组：无视网膜病变的糖尿病患者（DNR组，n = 171）和有视网膜病变的糖尿病患者（DR组，n = 237），后者进一步细分为非增殖性DR组（NPDR组，n = 121）和增殖性DR组（PDR组，n = 116）。男性患者分为DNR组（n = 153）和DR组（n = 182），DR组再进一步分为NPDR组（n = 86）和PDR组（n = 96）。对ACE2基因中的两个单核苷酸多态性（SNP；rs2074192和rs714205）进行基因分型。
在女性患者中，rs2074192的TT基因型频率和rs714205的CC基因型频率在DR组和PDR组中高于DNR组（P < 0.05）。SNP rs2074192的T等位基因频率和SNP rs714205的C等位基因频率在DR组（P < 0.05）和PDR组（P < 0.05）中高于DNR组。SNP rs2074192的T等位基因频率在PDR组（P = 0.04）中高于NPDR组。单倍型TC和CG的频率分别在DR组和PDR组中较高（P < 0.05）。在男性患者中未发现阳性结果。
我们的结果表明，ACE2基因中的SNP rs2074192和rs714205与DR和PDR的易感性相关。
