| 1 | Prog. Neuropsychopharmacol. Biol. Psychiatry 2010 Aug 34: 1094-7 |
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| PMID | 20570600 |
| Title | Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia. |
| Abstract | The early development of dopaminergic pathways has been attributed importance for the aetiology ofschizophrenia。几个涉及转录因子d in the survival and maturation of dopamine neurons, includingLMX1A, LMX1B and PITX3. The possibility that polymorphisms in these genes may influence the development and/or the maintenance of dopaminergic neurons prompted us to investigate if five single nucleotide polymorphisms (SNPs) previously linked to Parkinson's disease are associated with this disorder. Preliminary evidence that genetic variation inLMX1A(rs6668493, rs4657411), LMX1B (rs10987386) and PITX3 (rs4919621) may increase the risk of developingschizophreniais presented. |
| SCZ Keywords | schizophrenia |
| 2 | Bipolar Disord 2015 Dec 17: 859-68 |
| PMID | 26534905 |
| Title | Polymorphisms of dopamine pathway genes NRG1 and LMX1A are associated with cognitive performance in bipolar disorder. |
| Abstract | LIM homeobox transcription factor 1, alpha (LMX1A) and neuregulin 1 (NRG1) are susceptibility genes forschizophreniathat have been implicated in the dopaminergic pathway and have been associated with altered cognitive functioning. We hypothesized that single nucleotide polymorphisms (SNPs) inLMX1Aand NRG1 would be associated with cognitive functioning in bipolar disorder. In total, four SNPs were directly genotyped. Regression models with five aggregated cognitive domains and intelligence quotient (IQ) score were run using risk variants ofLMX1A(rs11809911, rs4657412, rs6668493) and NRG1 (rs35753505) as predictors. Models were performed in a clinical sample of patients with bipolar disorder (n = 114) and healthy controls (n = 104). The risk variants of the rs11809911 SNP inLMX1Awere negatively associated with IQ score and memory/learning, whereas the risk variants of rs35753505 in NRG1 were positively associated with IQ score (adjusted R(2) = 0.17, Q = 0.006) and memory/learning (adjusted R(2) = 0.24, Q = 0.001). The risk variants of the rs35753505 SNP in NRG1 were positively associated with language (adjusted R(2) = 0.11, Q = 0.006), visuospatial functions (adjusted R(2) = 0.23, Q = 0.001), and attention/speed (adjusted R(2) = 0.25, Q = 0.001). Results could not be replicated in controls. The risk variants of the rs35753505 SNP were associated with increased performance in several cognitive domains and IQ, whereas the risk variants of the rs11809911 SNP inLMX1Awas associated with reduced IQ and memory/learning. |
| SCZ Keywords | schizophrenia |