BioMed Research International

Research Article

Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach

Table 1

Results of genome-wide association analyses for hematological traits.
TraitCHRSNPCytobandGene Minor  
allele		Discovery ( = 8,842)Replication ( = 3,667)Combined ( = 12,509)
MAFEffect sizeEffect sizeEffect size ()
Novel             
 PLT4rs22827864q25EGFC0.25−6.66 ± 1.1233.18 × 10−9−6.58 ± 1.7411.58 × 10−4−6.64 ± 0.9442.05 × 10−120.97 (0.00)
Previously reported             
 Hb22rs207608622q12.3TMPRSS6T0.490.09 ± 0.0187.33 × 10−70.11 ± 0.0263.24 × 10−50.09 ± 0.0151.19 × 10−100.52 (0.41)
 Hct6rs93760906q23.3HBS1L-MYBC0.32−0.35 ± 0.0551.68 × 10−10−0.18 ± 0.0812.68 × 10−2−0.30 ± 0.0456.20 × 10−110.08 (3.05)
 RBC6rs77756986q23.3HBS1L-MYBT0.33−0.07 ± 0.0066.82 × 10−34−0.06 ± 0.0094.92 × 10−12−0.07 ± 0.0052.69 × 10−440.20 (1.68)
4rs170844064q12PDGFRA-KITG0.26−0.04 ± 0.0062.09 × 10−11−0.05 ± 0.0101.81 × 10−8−0.05 ± 0.0052.85 × 10−180.36 (0.85)
6rs32181086p21.1CCND3T0.220.04 ± 0.0072.15 × 10−100.05 ± 0.0102.54 × 10−60.04 ± 0.0062.59 × 10−150.79 (0.07)
12rs713821612p13.3PARP11-CCND2C0.27−0.03 ± 0.0062.70 × 10−7−0.03 ± 0.0094.73 × 10−3−0.03 ± 0.0055.19 × 10−90.54 (0.37)
9rs81767439q34.2ABOT0.210.03 ± 0.0079.88 × 10−70.03 ± 0.0105.73 × 10−30.03 ± 0.0062.12 × 10−80.62 (0.25)
2rs22186602p21PRKCEG0.18−0.03 ± 0.0072.90 × 10−6−0.03 ± 0.0112.90 × 10−3−0.03 ± 0.0062.94 × 10−80.85 (0.04)
 WBC17rs807045417q21.1PSMD3-CSF3T0.470.16 ± 0.0283.62 × 10−90.11 ± 0.0438.68 × 10−30.15 ± 0.0231.74 × 10−100.31 (1.04)
7rs119813407q21.2CDK6C0.34−0.13 ± 0.0294.99 × 10−6−0.20 ± 0.0459.58 × 10−6−0.15 ± 0.0244.33 × 10−100.21 (1.58)
 PLT22rs197708122q13.31PNPLA3C0.41−5.84 ± 0.9974.70 × 10−9−3.76 ± 1.6081.94 × 10−2−5.27 ± 0.8475.10 × 10−100.27 (1.21)
6rs94690326p21.33LY6G5CG0.0312.7 ± 2.7574.42 × 10−616.6 ± 4.3361.35 × 10−413.8 ± 2.3273.12 × 10−90.45 (0.58)
6rs92770536p21.32HLA-DOA-HLA-DPA1A0.345.18 ± 1.0497.95 × 10−75.27 ± 1.6221.18 × 10−35.21 ± 0.8813.43 × 10−90.96 (0.00)
12rs73949612q24.12SH2B3A0.11−8.36 ± 1.5721.06 × 10−7−5.75 ± 2.3851.06 × 10−2−7.57 ± 1.3138.00 × 10−90.36 (0.84)
6rs93991376q23.3HBS1L-MYBC0.335.24 ± 1.0721.06 × 10−65.00 ± 1.6302.20 × 10−35.17 ± 0.8968.07 × 10−90.90 (0.02)
3rs130915743q27.1THPOC0.166.39 ± 1.3191.28 × 10−66.22 ± 2.1423.73 × 10−36.34 ± 1.1231.62 × 10−80.94 (0.01)
CHR, chromosome; BP, base position; MAF, minor allele frequency; Hb, hemoglobin; Hct, hematocrit; RBC, red blood cell count; WBC, white blood cell count; PLT, platelet count. Effect sizes are shown as beta ± S.E. A test of heterogeneity () was conducted; , Cochrane’s value based on chi-squared statistics. Age and gender were used in analyses as covariates.