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. 2016 May 4;117(1):51–61. doi: 10.1038/hdy.2016.25

Table 2. Gene discovery using EigenGWAS.

Gene Lead SNP Position Allele P-valuea MAF (TSI:CEU) Fstb Annotation
CEU and TSI samples
 LCT rs6719488 2:135817629 G/T 6.68e−34 (1.21e−20) 0.733:0.206 0.558 Lactose persistent locus
 DARS rs13404551 2:135964425 C/T 8.18e−39 (1.51e−23) 0.756:0.206 0.604 Genetic hitchhiking because of LCT
 MICA rs2256175 6:31412672 T/C 8.94e−10 (2.60e−6) 0.665:0.360 0.183 MHC class I polypeptide-related sequence A
 HIF1A rs2256205 14:61670944 A/G 1.51e−10 (8.86e−7) 0.464:0.179 0.192 HIF-1A thus plays an essential role in embryonic vascularization, tumour angiogenesis and pathophysiology of ischaemic disease.
 HERC2 rs8039195 15:26189679 C/T 2.75e−12 (8.22e−08) 0.403:0.122 0.212 Genetic variations in this gene are associated with skin/hair/eye pigmentation variability
               
Gene Lead SNP Position Allele P-valuea MAF (Southern Europeans: Northern Europeans) Fstb Annotation
POPRES European samples
 LCT rs3754686 2:135817629 T/C 3.30e−106 (1.23e−22) 0.514:0.279 0.110  
 DARS rs13404551 2:135964425 C/T 6.32e−102 (8.99e−22) 0.518:0.293 0.106  
 SLC4A4 rs605203 6:31819235 C/A 8.94e−44 (5.77e−10) 0.214:0.343 0.040 Defects in this gene can cause sialidosis, a lysosomal storage disease
 HERC2 rs1667394 15:26189679 C/T 3.90e−38 (8.15e−09) 0.276:0.173 0.041  

Abbreviations: GWAS, genome-wide association study; MAF, minor allele frequency; SNP, single-nucleotide polymorphism.

The P-value cutoff for CEU and TSI was 5.44e−08 (919 133 SNPs) and for POPRES was 7.76e−08 (643 995 SNPs) at genome-wide significance level of α=0.05. λGC=1.725 for CEU and TSI and λGC=5.00 for POPRES.

a

P-values without λGC correction, and with λGC correction in parentheses.

b

Fst is calculated by partitioning the sample into two groups upon E1 >0. For TSI and CEU set, partitioning on E1 perfectly separated TSI (88 samples) and CEU (112 samples). For POPRES, partitioning on E1 separated southern European population (1092 samples) and northern European population (1374 samples).