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. 2014 Jun 11;23(3):374–380. doi: 10.1038/ejhg.2014.110

Table 2. Summary of the GWAS and replication studies.

SNP Chr Allele 1/2 Study maf_case maf_ctrl P OR (95% CI) Phet
rs4618210:g.17099388A>G 3 A/G GWAS 0.45 0.40 6.78 × 10−5 0.84 (0.77–0.91)  
      Replication 1 0.44 0.42 5.18 × 10−7 0.91 (0.88–0.95)  
      Replication 2 0.43 0.43 0.590 0.98 (0.90–1.06)  
      Replication combined     2.74 × 10−7 0.92 (0.89–0.95) 0.13
      ALL     2.60 × 10−9 0.91 (0.88–0.94) 0.04
rs3803915:g.2111529A>C 19 A/C GWAS 0.22 0.19 5.59 × 10−5 0.80 (0.72–0.89)  
      Replication 1 0.21 0.19 6.90 × 10−6 0.91 (0.87–0.95)  
      Replication 2 0.21 0.18 4.74 × 10−3 0.86 (0.77–0.95)  
      Replication combined     4.43 × 10−7 0.90 (0.87–0.94) 0.32
      ALL     3.84 × 10−9 0.89 (0.86–0.92) 0.06

Abbreviations: CI, confidence interval that was calculated using allele 1 as the reference; Chr, chromosome; GWAS, genome-wide association study; maf, minor allele frequency; OR, odds ratio that was calculated using allele 1 as the reference; SNP, single-nucleotide polymorphism.

The P-values of the GWAS were the genomic-control P-values (PGC). The combined P-values were calculated by the inverse variance method. The P-values of heterogeneities (Phet) across the population were estimated formally using the Breslow–Day test. Chromosome location was based on hg18 (Genome Build 36.3).