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. 2013 Feb 6;8(2):e54812. doi: 10.1371/journal.pone.0054812

Table 3. MixMAP in GLGC identifies IBC array loci that lack single SNP evidence for LDL-C association.

Position Single SNP p-values Supporting
Locus Chr Start Stop Gene Name Single SNP*1 MixMAP*2 # of SNPs Min Median Max Evidence§
PKN2 1 88918822 89073711 PKN2 - + 21 0.003906 0.06777 0.6081 None
FN1 2 215938326 216066837 FN1 - + 44 1.56E-05 0.1254 0.9993 B [49], [50]
UGT1A1 2 234255355 234346384 UGT1A1 - + 20 3.53E-06 0.070225 0.9471 A [18][20]; B [21]
PPARG 3 12309416 12450557 PPARG - + 49 1.35E-05 0.1021 0.9917 ?A,B,C[22][25]
DMDGH 5 78331610 78402461 DMGDH - + 19 0.002283 0.08308 0.6427 A [51]
PPARD 6 35419966 35503982 PPARD - + 45 0.002272 0.1943 0.8976 A [31][34]; B [52]
CDK6 7 92074765 92304241 CDK6 - + 43 0.0006457 0.1083 0.8932 None
VPS13B 8 100143528 100936497 VPS13B - + 30 0.0003567 0.101375 0.861 **A [42]
GAD2 10 26552050 26631994 GAD2 - + 22 0.006998 0.06269 0.3543 None
GAB2 11 77604417 77802894 GAB2 - + 13 1.65E-05 0.0005164 0.9401 None
APOH 17 61629102 61657177 APOH - + 25 2.10E-05 0.1556 0.9846 A [26][29]
NPC1 18 19366772 19415132 NPC1 - + 16 0.014 0.04201 0.3832 A,B,C [35][38]

For the 31827 SNPs in 2960 genes interrogated in Global Lipids Genetic Consortium (GLGC) summary data [1], Inline graphic novel loci are detected by MixMAP alone. The median p-values for these genes tend to be lower than expected by chance. No association with plasma lipids but mouse models support role in atherosclerosis; No association with plasma lipids but cause of inborn error of choline metabolism; **No association with plasma lipids but implicated in Cohen syndrome in which truncal obesity is a feature; ?PPARG is a prominent gene for insulin resistance, type-2 diabetes mellitus, lipodystrophy and obesity; some data link PPARG to lipoprotein abnormalities; Inline graphic Inline graphic indicates corresponding gene detected and – indicates corresponding gene not detected; Inline graphicgenome wide significant threshold (Inline graphic); Inline graphicBonferroni correction based on the number of genes (Inline graphic); Inline graphicBased on published literature (see corresponding citations): A: human data; B: mouse/animal data; and C: cell biology.