| 1 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012 Jun 159B: 445-55 |
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| PMID | 22488871 |
| Title | ASTN1 and alcohol dependence: family-based association analysis in multiplex alcohol dependence families. |
| Abstract | A previous genome-wide linkage study of alcohol dependence (AD) in multiplex families found a suggestive linkage result for a region on Chromosome 1 near microsatellite markers D1S196 and D1S2878. The ASTN1 gene is in this region, a gene previously reported to be associated with substance abuse, bipolar disorder and schizophrenia. Using the same family data consisting of 330 individuals with phenotypic data and DNA, finer mapping of a 26 cM region centered on D1S196 was undertaken using SNPs with minor allele frequency (MAF) ? 0.15 and pair-wise linkage disequilibrium (LD) of r(2) < 0.8 using the HapMap CEU population. Significant FBAT P-values for SNPs within the ASTN1 gene were observed for four SNPs (rs465066, rs228008, rs6668092, and rs172917), the most significant, rs228008, within intron 8 had a P-value of 0.001. Using MQLS, which allows for inclusion of all families, we find three of these SNPs with MQLS P-values < 0.003. In addition, two additional neighboring SNPs (rs10798496 and rs6667588) showed significance at P = 0.002 and 0.03, respectively. Haplotype analysis was performed using the haplotype-based test function of FBAT for a block that included rs228008, rs6668092, and rs172917. This analysis found one block (GCG) over-transmitted and another (ATA) under-transmitted to affected offspring. Linkage analysis identified a region consistent with the association results. Family-based association analysis shows the ASTN1 gene significantly associated with alcohol dependence. The potential importance of the ASTN1 gene for AD risk may be related its role in glial-guided neuronal migration. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 2 | J. Mol. Neurosci. 2013 Jun 50: 345-52 |
| PMID | 23483448 |
| Title | Association between neurotensin receptor 1 (NTR1) gene polymorphisms and schizophrenia in a Han Chinese population. |
| Abstract | Neurotensin (NT) is a multifunctional gut hormone, neurotransmitter, and neuromodulator that triggers many physiological responses by binding to the high-affinity neurotensin receptor 1 (NTR1). Previous studies have implicated the roles of NT and NTR1 in the etiology or expression of schizophrenia. This case-control study examined the associations between schizophrenia and three NTR1 gene polymorphisms (rs6090453C/G, rs6011914C/G, and rs2427422A/G) previously linked to working memory performance in a Han Chinese population. These three polymorphisms were genotyped in 390 schizophrenic patients and 565 healthy subjects. Compared with those of the controls, the frequencies for C allele in the rs6090453C/G polymorphism were higher in the schizophrenic patients (p?=?0.049) and their female subgroup (p?=?0.014). The frequencies for the rs6090453C/rs6011914G/rs2427422G (CGG) haplotype were also higher in the patients (p?=?0.016) and their female subgroup (p?=?0.005). Moreover, in the female subgroup, the frequencies for the rs6090453G/rs6011914C/rs2427422G (GCG) haplotype were higher in the controls (p?=?0.028). Our results suggest that the C allele (CC or CG genotype) in the rs6090453C/G polymorphism and the CGG haplotype may enhance schizophrenia susceptibility in the Han Chinese population, while the GCG haplotype may be a protective factor, particularly in females. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 3 | J. Mol. Neurosci. 2013 Jun 50: 345-52 |
| PMID | 23483448 |
| Title | Association between neurotensin receptor 1 (NTR1) gene polymorphisms and schizophrenia in a Han Chinese population. |
| Abstract | Neurotensin (NT) is a multifunctional gut hormone, neurotransmitter, and neuromodulator that triggers many physiological responses by binding to the high-affinity neurotensin receptor 1 (NTR1). Previous studies have implicated the roles of NT and NTR1 in the etiology or expression of schizophrenia. This case-control study examined the associations between schizophrenia and three NTR1 gene polymorphisms (rs6090453C/G, rs6011914C/G, and rs2427422A/G) previously linked to working memory performance in a Han Chinese population. These three polymorphisms were genotyped in 390 schizophrenic patients and 565 healthy subjects. Compared with those of the controls, the frequencies for C allele in the rs6090453C/G polymorphism were higher in the schizophrenic patients (p?=?0.049) and their female subgroup (p?=?0.014). The frequencies for the rs6090453C/rs6011914G/rs2427422G (CGG) haplotype were also higher in the patients (p?=?0.016) and their female subgroup (p?=?0.005). Moreover, in the female subgroup, the frequencies for the rs6090453G/rs6011914C/rs2427422G (GCG) haplotype were higher in the controls (p?=?0.028). Our results suggest that the C allele (CC or CG genotype) in the rs6090453C/G polymorphism and the CGG haplotype may enhance schizophrenia susceptibility in the Han Chinese population, while the GCG haplotype may be a protective factor, particularly in females. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 4 | Pharmacogenomics 2014 Mar 15: 423-31 |
| PMID | 24624910 |
| Title | Genetic variation in the GCG and in the GLP1R genes and antipsychotic-induced weight gain. |
| Abstract | GLP-1 plays a key role in glucose metabolism and influences antipsychotic-induced weight gain (AIWG). Our study is the first to investigate the encoding gene, GCG, and the GLP-1 receptor gene, GLP1R, and association with AIWG. In 216 schizophrenic patients treated with antipsychotics for up to 14 weeks, we investigated four GCG and 33 GLP1R polymorphisms. Statistical analyses were conducted using SPSS, Haploview 4.2, UNPHASED 3.1.4 and the R-package mbmdr. We observed association of rs13429709 near GCG with AIWG (p(corr) = 0.044) in patients of European ancestry receiving olanzapine or clozapine (n = 87). We also found significant gene-gene interaction between rs13429709 and rs2268639 in GLP1R. Only nonsignificant trends were observed for GLP1R polymorphisms with AIWG. We found significant association of rs13429709 with AIWG. Although there was no significant finding for GLP1R, the observed trends and interaction suggest this to be an interesting gene for further examination. |
| SCZ Keywords | schizophrenia, schizophrenic |