| Title : A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia - Sinkus_2009_Brain.Res_1291_1 |
| Author(s) : Sinkus ML , Lee MJ , Gault J , Logel J , Short M , Freedman R , Christian SL , Lyon J , Leonard S |
| Ref : Brain Research , 1291 :1 , 2009 |
| Abstract : Multiple genetic linkage studies support the hypothesis that the 15q13-14 chromosomal region contributes to the etiology of schizophrenia. Among the putative candidate genes in this area are the alpha7 nicotinic acetylcholine receptor gene (CHRNA7) and its partial duplication, CHRFAM7A. A large chromosomal segment including the CHRFAM7A gene locus, but not the CHRNA7 locus, is deleted in some individuals. The CHRFAM7A gene contains a polymorphism consisting of a 2 base pair (2 bp) deletion at position 497-498 bp of exon 6. We employed PCR-based methods to quantify the copy number of CHRFAM7A and the presence of the 2 bp polymorphism in a large, multi-ethnic population. The 2 bp polymorphism was associated with schizophrenia in African Americans (genotype p=0.005, allele p=0.015), and in Caucasians (genotype p=0.015, allele p=0.009). We conclude that the presence of the 2 bp polymorphism at the CHRFAM7A locus may have a functional significance in schizophrenia. |
| ESTHER : Sinkus_2009_Brain.Res_1291_1 |
| PubMedSearch : Sinkus_2009_Brain.Res_1291_1 |
| PubMedID: 19631623 |
Sinkus ML, Lee MJ, Gault J, Logel J, Short M, Freedman R, Christian SL, Lyon J, Leonard S (2009)
A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia
Brain Research
1291 :1
Sinkus ML, Lee MJ, Gault J, Logel J, Short M, Freedman R, Christian SL, Lyon J, Leonard S (2009)
Brain Research
1291 :1