Table 1.
Demographic and clinical characteristics for TRS.
Figure 1.
Graphical summary of genome-wide association analysis for TRS in a Han Chinese population.
Results (−log10P) are shown in chromosomal order for 694,436 SNPs which were tested in 522 cases and 806 controls by using Affymetrix SNP 6.0 Array. The horizontal line indicates a P-value of 10−5.
Figure 2.
Refined regional association plots.
For each plot of the four clusters ((A) SLAMF1, (B) NFKB1, (C) DOCK4, and (D) RIPK4), the −log10P values for the trend test from Affymetrix SNP 6.0 Array in 522 cases and 806 controls are plotted as red diamond according to their genomic position (NCBI Build 36.3). The SNPs with the strongest signal are represented as blue diamonds. The recombination rates (right y-axis) based on the Chinese HapMap population is plotted as green lines to reflect the local LD structure around the SNPs. The dashed horizontal line indicates a P-value of 10−5.
Table 2.
Results of GWAS for TRS in Han population.
Figure 3.
LD plot of rs28362491 (-94delATTG).
rs28362491 shows linkage disequilibrium with the Affymetrix SNPs. Both rs230529 and rs4699030 have the lowest P value in this study.
Table 3.
Variants identified in NFKB1 by direct sequencing in 94 TRS cases and controls.
Figure 4.
Reporter assay of rs28362491 (-94ins/delATTG) of NFKB1 in SH-SY5Y cells.
pGL3 luciferase reporter contained either the -94ATTGATTG (W) or the -94ATTG (D) allele at the promoter region of the NFKB1. Values represented the average of three experiments and the error bars represented the standard deviation. pGL3-basic was used as control without any promoter sequence inserted. ** P<0.01.