Rare genetic variants (MAF≤0.5% in control population) identified in GATA2, GATA4, and GATA6 genes
| Gene | Position | dbSNP ID | Nucleotide variant | Amino acid change | Patients | Controls | p Value | ESP | 1000G |
|---|---|---|---|---|---|---|---|---|---|
| GATA2 | E1 | – | c.-77G>A | – | A=0.2 | – | – | – | – |
| rs116559910 | c.*508G>A | – | A=0.2 | – | – | – | A=0 | ||
| GATA4 | E2 | rs114658939 | c.-306C>T | – | T=0.2 | – | – | – | T=0 |
| rs368418329 | c.-294G>T | – | T=0.7 | T=0.2 | 0.32 | – | – | ||
| E3 | rs55788387 | c.699G>A | p.Thr233= | A=0.2 | – | – | A=0.3 | A=0.4 | |
| I3 | rs373179740 | c.783+51G>A | – | A=0.2 | – | – | A=0.2 | – | |
| E4 | rs55980825 | c.822C>T | p.Cys274= | T=0.2 | T=0.2 | 1.00 | T=0.4 | T=0.5 | |
| I4 | rs147860174 | c.909+25G>A | – | A=0.2 | A=0.4 | 1.00 | A=0.7 | A=0.7 | |
| E6 | rs370588269 | c.1027 G>A | p.Ala343Thr | A=0.2 | – | – | A=0.01 | – | |
| rs3729855 | c.1056C>T | p.Asn352= | T=1.4 | T=0.2 | 0.03 | T=0.2 | T=0 | ||
| GATA6 | E1 | – | c.-181G>A | – | A=0.2 | A=0.4 | 1.00 | – | – |
| E2 | rs758629279 | c.296T>C | p.Val99Ala | C=0.2 | – | – | – | – | |
| – | c.849G>A | p.Ala283= | A=0.2 | – | – | – | – | ||
| rs185325359 | c.851C>G | p.Ala284Gly | G=0.2 | G=0.2 | 1.00 | – | G=0 | ||
| – | c.970_978del | p.His324_His326del | del=0.2 | – | – | – | – | ||
| I3 | rs56314574 | c.1302+20C>T | – | T=0.2 | T=0.2 | 1.00 | T=0.03 | T=0 | |
| E4 | rs143026087 | c.1374C>T | p.Asn458= | T=0.2 | T=0.2 | 1.00 | T=0.3 | T=0.1 | |
| E7 | rs146243018 | c.1663C>G | p.Pro555Ala | G=0.5 | G=0.2 | 0.56 | G=0.02 | G=0.02 |
1000G, 1000 Genomes Project in European populations; dbSNP ID: single-nucleotide polymorphism identification in the database dbSNP.
Statistical significance was considered as p value <0.002 (0.05/22). Positions of variants based on GATA2 RefSeq NM_032638.4, NP_116027.2; GATA4 RefSeq NM_002052.3, NP_002043.2; GATA6 RefSeq NM_005257.3, NP_005248.2.
E, exon; ESP, Exome Sequencing Project in European American population; I, intron; MAF, minor allele frequency.