From: Burden of Mendelian disorders in a large Middle Eastern biobank
Gene | Variants | Biobank phenotype/trait | Beta | Chi sq | P value | Variants | RR|RA|AAa | Supporting evidence from literature | Ref |
---|---|---|---|---|---|---|---|---|---|
DNAJC22 | rs748318571; c.572C>T; p.Ala191Val | Glucose | 10.80 | 69.9 | 5.95E−17 | 1 | 6041|3|1 | eQTL in NDDM mice model nearby DNAJC22 homologous gene | - |
HLF | –; c.465G>T; p.Pro155= | HBA1c | − 10.26 | 68.2 | 1.45E−16 | 1 | 6041|3|1 | - | - |
LGI3 | rs149352514; c.1150G>A; p.Gly384Ser | BMI | 16.34 | 56.1 | 6.62E−14 | 1 | 6037|7|1 | LGI3 may be a candidate adipokine that is perturbed in obesity and suppresses adipogenesis through its receptor, ADAM23 | 70 |
ITPK1 | –; c.1111C>T; p.Pro371Ser | ALT-GPT | 20.63 | 50.6 | 1.12E−12 | 2 | 6012|31|2 | - | - |
rs567443586; c.1074C>A; p.Ser358Arg | Â | Â | Â | Â | Â | Â | Â | Â | |
MARCH10 | –; c.2026G>C; p.Pro676Ala | Glucose | 7.25 | 44.3 | 2.70E−11 | 4 | 5854|182|9 | - | - |
rs116835087; c.1759G>A; p.Gly587Ser | Â | Â | Â | Â | Â | Â | Â | Â | |
rs60472825; c.1285C>T; p.His429Tyr | Â | Â | Â | Â | Â | Â | Â | Â | |
rs529095649; c.113A>G; p.Tyr38Cys | Â | Â | Â | Â | Â | Â | Â | Â | |
DNAJC15 | rs144620914; c.383-2A>G; – | ALT-GPT | 43.58 | 43.5 | 4.20E−11 | 1 | 6039|5|1 | Silencing hepatic MCJ attenuates non-alcoholic fatty liver disease (NAFLD) by increasing mitochondrial fatty acid oxidation (reduced NAFLD liver steatosis and fibrosis in MCJ deficient mice) | 72 |
RPS6KA3 | rs1026040538; c.28C>T; p.Arg10Cys | Sex hormone-binding globulin | 130.50 | 42.1 | 8.25E−11 | 1 | 6040|4|1 | Same gene-phenotype association identified in a dataset from UK biobank | 73 |
FMR1NB | rs782656279; c.35A>G; p.Asn12Ser | Ferritin | 223.39 | 39.1 | 3.95E−10 | 3 | 6041|1|3 | Gene encodes ferritin heavy chain 1 pseudogene 8 | - |
rs782029879; c.172C>T; p.Arg58Trp | Â | Â | Â | Â | Â | Â | Â | Â | |
–; c.536A>C; p.Asp179Ala |  |  |  |  |  |  |  |  | |
RGCC | ; c.19C>T; p.Gln7a | total cholesterol | − 2.57 | 37.6 | 8.56E−10 | 1 | 6034|10|1 | RGD: association in rats with serum cholesterol | 74 |
STK32C | rs377335124; c.486C>T; p.Asp175= | BMI | 7.78 | 35.5 | 2.44E−09 | 2 | 6023|20|2 | - | - |
rs564621303; c.302-4_302-1dup; – |  |  |  |  |  |  |  |  | |
HHAT | rs757118759; c.62G>C; pArg21Pro | ALT-GPT | 26.95 | 33.8 | 5.81E−09 | 2 | 6032|11|2 | - | - |
rs149597734; c.1112C>T; p.Thr371Ile | Â | Â | Â | Â | Â | Â | Â | Â | |
PAX2 | rs199876625; c.453G>A; p.Pro182= | LDL cholesterol | − 2.17 | 33.2 | 8.14E−09 | 1 | 6027|17|1 | - | - |
TFR2 | rs1002859413; c.554G>A; p.Arg185His | Glucose | 2.77 | 33.2 | 8.22E−09 | 1 | 6018|26|1 | An association with hereditary hemochromatosis type III, a condition with complications that result in pancreatic damage and secondary diabetes | 72 |