Human genetics of diabetic nephropathy

Figures & data

Table 1. Genetic linkage analysis for diabetic nephropathy.

Chromosome region	Population studied	Reference
2q14.1	Caucasian and African-Americans	26
3q	Pima Indians	21^,27
7p	African-American-Americans	24^,27
7q	Caucasian and African-Americans	25
7q21.1, 7q21.3	Caucasian and African-Americans	26
10p15.3	Caucasian and African-Americans	26
14q23.1	Caucasian and African-Americans	26
15q26.3	Caucasian and African-Americans	26
16q13	Japanese	23
18q, 18q22.3-23	Turkish	22^,24
20p	Caucasian and African-Americans	27
22q	Caucasian and African-Americans	25

Table 2. Genetic association analysis for diabetic nephropathy.

Polymorphism	Candidate gene	Reference
rs1805101	ENPP1/PC-1	17^,39
rs35448603	CATALASE	41
rs4673	CYBA	43
rs1800625	RAGE	44
rs1800624	RAGE	44
rs1799883	FABP2	45
rs1801282	PPARγ2	46
rs39059	CPVL/CHN2	21
rs39075	CPVL/CHN2	21
rs1888747	FRMD3	21
rs10868025	FRMD3	21
rs739401	CARS	21
rs451041	CARS	21
rs1411766	IRS2/MYO16	21
rs39075	CPVL/CHN2	21
rs1888746	FRMD3	21
rs13289150	FRMD3	21
rs451041	CARS	21

Table 3. mtDNA association analysis for diabetic nephropathy.

Haplogroup	Phenotype	p Value	Reference
U3	Nephropathy	0.0154	59
V	Renal failure	0.0103	59
H3	Renal failure	0.0143	59

Table 4. miRNA involved in diabetic nephropathy.

miRNA	Target tissue	Reference
miR-192	Kidney	122
miR-107	Pancreas, adipose	20^,38
miR-125(a/b)	Liver, vascular tissue	8^,123
miR-216a	Kidney	124^,125
miR-217	Kidney	124^,125
miR-320	Adipose, vascular endothelium	126^,127

Iyengar SK, Abboud HE, Goddard KA, et al. Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: The family investigation of nephropathy and diabetes (FIND). Diabetes. 2007;56:1577–1585

 PubMed Web of Science ®Google Scholar

Imperatore G, Hanson RL, Pettitt DJ, et al. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes. 1998;47:821–830

 PubMed Web of Science ®Google Scholar

Rogus JJ, Poznik GD, Pezzolesi MG, et al. High-density single nucleotide polymorphism genome-wide linkage scan for susceptibility genes for diabetic nephropathy in type 1 diabetes: Discordant sibpair approach. Diabetes. 2008;57:2519–2526

 PubMedGoogle Scholar

Bowden DW, Colicigno CJ, Langefeld CD, et al. A genome scan for diabetic nephropathy in African Americans. Kidney Int. 2004;66:1517–1526

 PubMed Web of Science ®Google Scholar

Krolewski AS, Poznik GD, Placha G, et al. A genome-wide linkage scan for genes controlling variation in urinary albumin excretion in type II diabetes. Kidney Int. 2006;69:129–136

 PubMed Web of Science ®Google Scholar

Tanaka N, Babazono T, Saito S, et al. Association of solute carrier family 12 (sodium/chloride) member 3 with diabetic nephropathy, identified by genome-wide analyses of single nucleotide polymorphisms. Diabetes. 2003;52:2848–2853

 PubMed Web of Science ®Google Scholar

Vardarli I, Baier LJ, Hanson RL, et al. Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23. Kidney Int. 2002;62:2176–2183

 PubMed Web of Science ®Google Scholar

Weber JL. Human DNA polymorphisms and methods of analysis. Curr Opin Biotechnol. 1990;1:166–171

 PubMedGoogle Scholar

Yip J, Mattock MB, Morocutti A, et al. Insulin resistance in insulin-dependent diabetic patients with microalbuminuria. Lancet. 1993;342:883–887

 PubMedGoogle Scholar

Pizzuti A, Frittitta L, Argiolas A, et al. A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. Diabetes. 1999;48:1881–1884

 PubMed Web of Science ®Google Scholar

Santos KG, Canani LH, Gross JL, et al. Relationship of p22phox C242T polymorphism with nephropathy in type 2 diabetic patients. J Nephrol. 2005;18:733–738

 PubMed Web of Science ®Google Scholar

Pezzolesi MG, Poznik GD, Mychaleckyj JC, et al. Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. Diabetes. 2009;58:1403–1410

 PubMed Web of Science ®Google Scholar

Maeda S, Araki S, Babazono T, et al. Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. Diabetes. 2010;59:2075–2079

 PubMed Web of Science ®Google Scholar

Hoover KB, Bryant PJ. The genetics of the protein 4.1 family: Organizers of the membrane and cytoskeleton. Curr Opin Cell Biol. 2000;12:229–234

 PubMed Web of Science ®Google Scholar

Achilli A, Olivieri A, Pala M, et al. Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole. PLoS One. 2011;6:e21029

 PubMed Web of Science ®Google Scholar

Sydorova M, Lee MS. Vascular endothelial growth factor levels in vitreous and serum of patients with either proliferative diabetic retinopathy or proliferative vitreoretinopathy. Ophthalmic Res. 2005;37:188–190

 PubMed Web of Science ®Google Scholar

Glazier AM, Nadeau JH, Aitman TJ. Finding genes that underlie complex traits. Science. 2002;298:2345–2349

 PubMed Web of Science ®Google Scholar

Perassolo MS, Almeida JC, Pra RL, et al. Fatty acid composition of serum lipid fractions in type 2 diabetic patients with microalbuminuria. Diabetes Care. 2003;26:613–618

 PubMedGoogle Scholar

Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996;273:1516–1517

 PubMed Web of Science ®Google Scholar

Park HK, Ahn CW, Lee GT, et al. (AC)(n) polymorphism of aldose reductase gene and diabetic microvascular complications in type 2 diabetes mellitus. Diabetes Res Clin Pract. 2002;55:151–157

 PubMed Web of Science ®Google Scholar

Awata T, Inoue K, Kurihara S, et al. A common polymorphism in the 5′-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes. Diabetes. 2002;51:1635–1639

 PubMed Web of Science ®Google Scholar

Santos KG, Tschiedel B, Schneider J, Souto K, Roisenberg I. Diabetic retinopathy in Euro-Brazilian type 2 diabetic patients: Relationship with polymorphisms in the aldose reductase, the plasminogen activator inhibitor-1 and the methylenetetrahydrofolate reductase genes. Diabetes Res Clin Pract. 2003;61:133–136

 PubMed Web of Science ®Google Scholar

Richeti F, Noronha RM, Waetge RT, et al. Evaluation of AC(n) and C(-106)T polymorphisms of the aldose reductase gene in Brazilian patients with DM1 and susceptibility to diabetic retinopathy. Mol Vis. 2007;13:740–745

 PubMed Web of Science ®Google Scholar

Uthra S, Raman R, Mukesh BN, et al. Association of VEGF gene polymorphisms with diabetic retinopathy in a south Indian cohort. Ophthalmic Genet. 2008;29:11–15

 PubMed Web of Science ®Google Scholar