Table 4. Family-based association results between DN-associated SNPs and nephropathy (normoalbuminuria vs. high microalbuminuria/proteinuria/ESRD) among diabetic family members.
Affecteds Only | Affecteds and Unaffecteds | ||||||||||||
SNP (risk allele)* | Chr. | Allele | Allele Frequency | # Families | S-E(S) | Var(S) | Z score | P-value (adjusted P-value) | # Families | S-E(S) | Var(S) | Z score | P-value (adjusted P-value) |
rs39075 (G) | 7p14.3 | G | 0.554 | 51 | 9.44 | 75.06 | 1.09 | 0.276 | 57 | 5.67 | 72.49 | 0.67 | 0.504 |
A | 0.446 | 51 | −9.44 | 75.06 | −1.09 | (1.00) | 57 | −5.67 | 72.49 | −0.67 | (1.00) | ||
rs1888747 (G) | 9q21.32 | G | 0.690 | 47 | 26.63 | 72.33 | 3.13 | 1.74×10−3 | 53 | 23.78 | 55.52 | 3.19 | 1.42×10−3 |
C | 0.310 | 47 | −26.63 | 72.33 | −3.13 | (0.010) | 53 | −23.78 | 55.52 | −3.19 | (0.009) | ||
rs10868025 (A) | 9q21.32 | A | 0.601 | 44 | 21.51 | 61.66 | 2.74 | 6.17×10−3 | 49 | 20.76 | 51.83 | 2.88 | 3.94×10−3 |
G | 0.399 | 44 | −21.51 | 61.66 | −2.74 | (0.037) | 49 | −20.76 | 51.83 | −2.88 | (0.024) | ||
rs451041(A) | 11p15.4 | A | 0.561 | 48 | 2.79 | 56.49 | 0.37 | 0.711 | 54 | 0.24 | 54.55 | 0.03 | 0.975 |
G | 0.439 | 48 | −2.79 | 56.49 | −0.37 | (1.00) | 54 | −0.24 | 54.55 | −0.03 | (1.00) | ||
rs1411766(A) | 13q33.3 | G | 0.598 | 53 | −4.06 | 64.70 | −0.51 | 0.614 | 55 | −0.46 | 54.62 | −0.06 | 0.950 |
A | 0.402 | 53 | 4.06 | 64.70 | 0.51 | (1.00) | 55 | 0.46 | 54.62 | 0.06 | (1.00) | ||
rs9521445(A) | 13q33.3 | A | 0.548 | 44 | 8.54 | 62.44 | 1.08 | 0.280 | 51 | 4.79 | 63.44 | 0.60 | 0.548 |
C | 0.452 | 44 | −8.54 | 62.44 | −1.08 | (1.00) | 51 | −4.79 | 63.44 | −0.60 | (1.00) |
Families = number of nuclear families informative for the FBAT analysis.
S-E(S) = observed minus the expected transmission for each allele.
Var(S) = variance of the observed transmission for each allele.
Z score: positive values indicate risk alleles (i.e., increased transmission to affected individuals), negative values indicate protective alleles (i.e., reduced transmission to affected individuals).
Associations achieving nominal significance (P-value<0.05) are indicated in bold.
Risk allele reported in Pezzolesi et al. [18]