Increased burden of risk alleles across independent loci was associated with higher odds of SSNS, with younger age of onset across all cohorts, and with increased odds of complete remission across histologies in NEPTUNE children. rs1063348 associated with decreased glomerular expression of HLA-DRB1, HLA-DRB5, and HLA-DQB1.<b>Conclusions</b> Transethnic GWAS empowered discovery of three independent risk SNPs for pediatric SSNS.
<i>HLA-DRB1*08:02-DQB1*03:02</i> (<i>Pc</i>=7.01×10<sup>-11</sup>; OR, 3.60; 95% CI, 2.46 to 5.29) was identified as the most significant genetic susceptibility factor.<b>Conclusions</b> The most significant association with childhood SSNS was detected in the <i>HLA-DR/DQ</i> region.
We determined the HLA class I (HLA- A* and HLA-B*) as well as class II (HLA- DRB1*, HLA- DQB1*) gene polymorphisms using the polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) technique, in patients with SRNS (n=64) and normal controls (n=236 for HLA- A*, n=80 for HLA- B*, HLA- DRB1* and HLA- DQB1*).
Their relative risks are significantly high [38.9, confidence interval (CI)=10.7-140.7, and 23.4, CI=6.7-81.9, respectively]; (2) the frequency of DRB1 *11 alleles was low in SSNS patients (3.75% vs. 32.2% in controls), but was not significant when P was corrected (P=0.005, Pc=NS).