Table 2

Replication of the discovery Genome-wide association studies (GWAS) lead SNPs in a validation cohort of 1444 local blood donors

ChrLocus
lead SNP
p ValueEffectORSEMinor alleleMajor alleleMAFHWE pvalNNearest gene
‘Serum lipase activity’ phenotype
9rs81766932.92×10−190.06130.007TC0.090.7431444ABO (intronic)
19rs6321112.05×10−60.0190.004GA0.430.5551444FUT2 (3‘-UTR)
16rs8895129.94×10−6−0.0280.006GC0.1111444CTRB2 (5‘ near gene)
‘High serum lipase activity’ phenotype
9rs81766935.19×10−90.8492.340.145TC0.090.7431444ABO (intronic)
19rs6321111.98×10−40.3461.410.093GA0.430.5551444FUT2 (3‘-UTR)
16rs8895123.31×10−4−0.5940.550.165GC0.1111444CTRB2 (5‘ near gene)
  • Linear regression analysis was performed after adjustment for age, sex, alcohol consumption and smoking.

  • Chr, chromosome; Effect, effect strength (β) and direction of minor SNP allele; HWE pval: Hardy–Weinberg p value; MAF, minor allele frequency of the SNP in the analysed sample; N, sample size; P, p value of association between locus lead SNP and phenotype.