Table 3 Significant functional associations of mitochondrial function genes via two-sample Mendelian randomization
From: Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
Genes | Beta | SE | P, FDR, adjusted | Probe | Data source | Analyte | Top QTL SNP | CHR, top QTL SNP | BP, top QTL SNP | Associated phenotype in OMIM | Neurological phenotypic features | Treatment response |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
LMBRD1 | −0.173 | 0.050 | 4.71E-04 | ENSG00000117245 | Expression57 | Brain | rs7763213 | 6 | 70416294 | Methylmalonic aciduria and homocystinuria, CBLF type; MAHCF | Hypotonia, lethargy, developmental delay, Impaired coordination | Responsive to vitamin B12 therapy |
ATG14 | 0.113 | 0.028 | 4.21E-05 | ENSG00000171612 | Expression57 | Brain | rs11621265 | 14 | 55822095 | NA | NA | NA |
E2F1 | 0.121 | 0.032 | 1.52E-04 | ENSG00000159423 | Expression57 | Brain | rs57668191 | 20 | 32289763 | NA | NA | NA |
EP300 | 0.151 | 0.042 | 2.80E-04 | ENSG00000090432 | Expression57 | Brain | rs139486 | 22 | 41627654 | Rubinstein-taybi syndrome 2; RTS2 | Behavioral difficulties, mental retardation (mild to moderate), low-normal intelligence, Autism spectrum disorder (in some patients), delayed psychomotor development, delayed gross motor development, speech delay | NA |
MRPS34 | −0.353 | 0.100 | 4.04E-04 | ILMN_2210482 | Expression58 | Blood | rs2575369 | 16 | 1817431 | Combined oxidative phosphorylation deficiency 32; COXPD32 | Delayed psychomotor development, lack of speech, inability to walk, spasticity, hyperreflexia, dystonia, choreoathetoid movements, abnormal T2-weighted signals in the basal ganglia and brainstem | NA |
PTPN1 | −0.090 | 0.022 | 5.27E-05 | ILMN_1681591 | Expression58 | Blood | rs17788127 | 20 | 49166548 | NA | NA | NA |
MRPL43 | 0.047 | 0.014 | 8.78E-04 | ILMN_1652147 | Expression58 | Blood | rs2863095 | 10 | 102746503 | NA | NA | NA |
CLN8 | 0.148 | 0.047 | 1.54E-03 | ILMN_1701094 | Expression58 | Blood | rs3812477 | 8 | 1734452 | Ceroid lipofuscinosis, neuronal, 8; CLN8 | Developmental regression, seizures, ataxia, speech and language difficulties, myoclonus, EEG abnormalities, cerebral atrophy, cerebellar atrophy, autofluorescent l ipopigment in neurons | NA |
MPI | 0.214 | 0.068 | 1.52E-03 | ILMN_1761262 | Expression58 | Blood | rs4886636 | 15 | 75196176 | Congenital disorder of glycosylation, type Ib; CDG1B | Hypotonia | Responsive to oral mannose therapy |
LGALS3 | 0.307 | 0.085 | 3.14E-04 | ILMN_1803788 | Expression58 | Blood | rs7157678 | 14 | 55548739 | NA | NA | NA |
CAPRIN2 | 0.337 | 0.101 | 8.49E-04 | ILMN_2345739 | Expression58 | Blood | rs11051061 | 12 | 30914668 | NA | NA | NA |
MUC1 | 0.487 | 0.118 | 3.39E-05 | ILMN_1756992 | Expression58 | Blood | rs6427184 | 1 | 155122783 | Medullary cystic kidney disease 1; MCKD11 | NA | NA |
CRY2 | −0.054 | 0.015 | 1.82E-04 | ch.11.939596F | Methylation57 | Brain | rs72902436 | 11 | 45881792 | NA | NA | NA |
FASN | 0.068 | 0.019 | 4.47E-04 | cg03407524 | Methylation57 | Brain | rs9905991 | 17 | 80052073 | NA | NA | NA |
