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. Author manuscript; available in PMC: 2016 May 1.
Published in final edited form as: J Pediatr. 2015 Mar 11;166(5):1152–1157.e6. doi: 10.1016/j.jpeds.2015.01.044

Figure 6.

Figure 6

There is no evidence of association between NBS IRT and the apical plasma membrane constituents in the Colorado and Wisconsin samples (n = 148) or in the French samples (n = 80). As in Sun et al.17, a list of 157 genes that localize to the apical plasma membrane was identified. We included 3,614 SNPs (Colorado and Wisconsin) or 3,567 SNPs (French) from the Illumina 660W-Quad BeadChip with minor allele frequency >2% that were annotated to +/−10 kb of the boundaries of the 155 genes. Two genes were not tagged by any GWAS SNPs. (A) Quantile-quantile plot in the combined Colorado and Wisconsin samples. The observed association statistics (black dotted line) and the statistics calculated from 10,000 IRT permuted replicates (gray) are shown. (B) Statistical significance of the apical plasma membrane hypothesis in the combined Colorado and Wisconsin samples. P-value (0.26) was established via a statistic that summed over the association evidence (Wald chi-squared statistic) of all the 3,614 SNPs with the observed sum statistic shown as a vertical line (black) and 10,000 permutation-based sum statistics shown as a histogram. (C) Quantile-quantile plot in the French replication sample. (D) Statistical significance of the apical membrane hypothesis in the French replication sample (P = 0.46).