Table 1.

Variants of susceptibility genes of DKD in MODY families

GeneGenetic Architecture of DKD in MODY Families
1-P1-F2-P2-B3-P4-P5-P5-M6-P6-M7-P7-M7-F8-P8-B8-F9-P9-M9-F
ACACBp.M930V
ACEp.N160Sp.N160Sp.R265Qp.R265Q
p.R570Wp.R570W
AFF3p.N905Sap.H889Qp.H889Qap.G1108E
p.G1108E
AGTp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tbp.M268Tb
AGTR1c.*86A>Cbc.*86A>Cb
CCR5p.R223Qp.R223Qp.T177Np.R223Qp.R223Q
CDKN2Ap.Q57Ra
COL4A3p.M1209Iap.M1209Ip.R408Hbp.R408Ha,bp.R408Hbp.R408Ha,bp.R408Hbp.R408Hb
CUBNp.E304Kp.E304Kp.P1474Sp.P1474Sp.E304Kp.S1736L
p.F2263C
ENPP1p.T779Pp.T779Pp.T779P
FABP2p.T55Aa,bp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Abp.T55Ab
IRS2p.A512Tp.A512T
KCNQ1p.G643Sac.1128+5c.1128+5p.P448Rp.P448Rp.P448R
G>AaG>A
LIMK2p.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rbp.Q684Rp.Q684Rb
MMP-9p.A20Vap.A20Vp.A20Vp.A20Vp.Q279Rbp.Q279Rb
MTHFRp.A222Vbp.A222Vbp.A222Vbp.A222Va,bp.A222Vbp.A222Vbp.A222Vbp.A222Vbp.A222Vbp.A222Vbp.A222Vbp.A222Vb
PON1p.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Ra,bp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rp.Q192Rbp.Q192Rbp.Q192Rbp.Q192Rb
p.A252Ga,b
PTPN13p.V1597Mp.V1597Mp.N1262Sap.N1262Sp.H1852Dp.R982Wp.R982Wp.R982W
p.V2189Ip.V2189I
PTX3c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9c.130+9
A>GbA>GbA>GbA>GbA>GbA>GbA>GbA>GbA>Ga,bA>GbA>GbA>GbA>GbA>GbA>GbA>GbA>Gb
SFI1p.K433Nap.N49Sp.K433Nap.Q780Hp.Q780Hp.Q780Hp.R685Cp.R685C
p.V923I
SLC12A3p.R913Qbp.R913Qb
TGF-B1p.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lbp.P10Lb
TRIB3p.Q84Rbp.Q84Rb
OR2AK2p.V203Mbp.V203Mbp.V203Mbp.V203Mbp.V203Mbp.V203Mbp.V203Ma,bp.V203Mbp.V203Mbp.V203Mbp.V203Ma,bp.V203Ma,b
RGMAp.R433Wa
  • DKD, diabetic kidney disease; MODY, maturity-onset diabetes in young.

  • a Represents variants with minor allele frequency <0.05 and predicted to be deleterious or pathogenic by Polyphen2 and Sorting Intolerant From Tolerant.

  • b Represents variants relate with DKD which have been reported.