Davoudi Samaneh, Sobrin Lucia
Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA.
Rev Diabet Stud. 2015 Fall-Winter;12(3-4):243-59. doi: 10.1900/RDS.2015.12.243. Epub 2016 Jan 25.
Both type 1 and type 2 diabetes mellitus can lead to the common microvascular complications of diabetic retinopathy, kidney disease, and neuropathy. Diabetic patients do not universally develop these complications. Long duration of diabetes and poor glycemic control explain a lot of the variability in the development of microvascular complications, but not all. Genetic factors account for some of the remaining variability because of the heritability and familial clustering of these complications. There have been a large number of investigations, including linkage studies, candidate gene studies, and genome-wide association studies, all of which have sought to identify the specific variants that increase susceptibility. For retinopathy, several genome-wide association studies have been performed in small or midsize samples, but no reproducible loci across the studies have been identified. For diabetic kidney disease, genome-wide association studies in larger samples have been performed, and loci for this complication are beginning to emerge. However, validation of the existing discoveries, and further novel discoveries in larger samples is ongoing. The amount of genetic research into diabetic neuropathy has been very limited, and much is dedicated to the understanding of genetic risk factors only. Collaborations that pool samples and aim to detect phenotype classifications more precisely are promising avenues for a better explanation of the genetics of diabetic microvascular complications.
1型和2型糖尿病均可导致糖尿病视网膜病变、肾病和神经病变等常见微血管并发症。糖尿病患者并非都会出现这些并发症。糖尿病病程长和血糖控制不佳在很大程度上解释了微血管并发症发生情况的差异,但并非全部。由于这些并发症具有遗传性和家族聚集性,遗传因素导致了部分剩余的差异。已经开展了大量研究,包括连锁研究、候选基因研究和全基因组关联研究,所有这些研究都试图确定增加易感性的特定变异。对于视网膜病变,已经在小样本或中等规模样本中进行了多项全基因组关联研究,但尚未在各项研究中鉴定出可重复的基因座。对于糖尿病肾病,已经在更大样本中开展了全基因组关联研究,该并发症的基因座开始显现。然而,现有发现的验证以及在更大样本中的进一步新发现仍在进行中。对糖尿病神经病变的基因研究数量非常有限,且大多仅致力于了解遗传风险因素。汇集样本并旨在更精确地检测表型分类的合作研究,是更好地解释糖尿病微血管并发症遗传学的有前景的途径。