Biomedical Science Letters

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Table. 1.

Comparison of identified SNPs for platelet count (PLT) in GWAS catalog and HEXA cohort

CHR GENE SNP Minor/Major allele HEXA result EA GWAS catalog Ref
Beta ± SE P-value Platelets count unit P-value
3 THPO rs6141 T/C 3.02±0.50 1.24×10-9 T 0.08 [0.052~0.100] 5.00×10-11 Kamatani Y
T 2.47 [1.57~3.36] 6.00×10-8 Gieger C
T 0.06 [0.056~0.073] 7.00×10-50 Kanai M
6 BAK1 rs210134 A/G -3.36±0.55 8.86×10-10 G -8.92 [5.82~12.02] 2.00×10-8 Li J
G -6.16 [4.63~7.69] 2.00×10-15 Qayyum R
A -4.94 [3.25~6.63] 9.00×10-9 Schick U
G 4.96 [4.18~5.73] 7.00×10-36 Gieger C
A 4.66 [NR] 6.00×10-8 Shameer K
G 5.73 [4.63~6.83] 2.00×10-24 Wojcik G
6 BAK1 rs9296095 C/T 5.46±0.60 1.07×10-19 C 4.8 [2.51~7.09] 1.00×10-15 Oh J
- 5.46 [4.33~6.58] 2.00×10-21 Wojcik G
6 GGNBP1 rs75080135 C/A 5.58±0.60 2.80×10-20 C 0.1 [0.093~0.111] 6.00×10-101 Astle W
12 ACAD10 rs6490294 C/A -4.29±0.66 6.92×10-11 A -4.38 [2.91~5.85] 5.00×10-9 Qayyum R
- 2.99 [1.92~4.07] 5.00×10-8 Wojcik G
13 ABCC4 rs4148441 A/G -3.73±0.61 9.37×10-10 G 4.12 [2.94~5.29] 7.00×10-12 Gieger C
- 3.65 [2.09~5.21] 5.00×10-6 Wojcik G

The P-values lower than the genome wide association study significance level (P < 10-8). Abbreviations: CHR, chromosome; EA, effect allele; HEXA, The health examinees; se, standard error, SNP, single nucleotide polymorphism. The SNP positions are based on UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19). The beta ± se of HEXA result is based on the minor allele

Biomed Sci Letters 2021;27:187-94 https://doi.org/10.15616/BSL.2021.27.3.187
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