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| Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8 |
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| Author(s): Chen WY, Shi YY, Zheng YL, Zhao XZ, Zhang GJ, Chen SQ, Yang PD, He L |
| Source: HUMAN MOLECULAR GENETICS Volume: 13 Issue: 23 Pages: 2991-2995 Published: DEC 1 2004 |
| Times Cited: 30 References: 20 |
| Abstract: Genetic variants in the 22q11 gene ZDHHC8, which encodes a putative transmembrane palmitoyltransferase, has been associated to schizophrenia in family-based linkage disequilibrium (LD) studies. The single nucleotide polymorphism (SNP) rs175174 (A/G), which had the strongest association, has been shown recently to regulate the level of the fully functional transcript by modulating the retention of intron 4 of ZDHHC8. In this work, we genotyped three genetic variants within the ZDHHC8 locus and conducted association studies in both population- and family-based samples of the Han Chinese population. The three polymorphisms spanning similar to5.5 Kb were detected to be in significant LD. Our results provided compelling supportive evidence for association of the variants within the ZDHHC8 locus with schizophrenia but revealed different risk allele at SNP rs175174. The G allele was significantly more common in cases than in controls (69.47 : 59.96%; P=0.000018) and excess transmission of the same allele was confirmed in the family-based transmission disequilibrium test (transmitted/non-transmitted=87 : 54; P=0.0055). Both sample sets even shared the same risk haplotype with similar frequency. Our current data presents consistent association results obtained from both case-control and family-based samples in a same laboratory under the same experimental condition. Despite the potential genetic heterogeneity, our independent findings further support that the 22q11 region is likely to harbor candidate schizophrenia susceptibility genes. |
| Document Type: Article |
| Language: English |
| Reprint Address: He, L (reprint author), Shanghai Jiao Tong Univ, Bio X Ctr, NHGG, Hao Ran Bldg,1954 Hua Shan Rd, Shanghai 200030, Peoples R China |
Addresses:
1. Shanghai Jiao Tong Univ, Bio X Ctr, NHGG, Shanghai 200030, Peoples R China
2. Shanghai Jiao Tong Univ, Bio X Life Sci Res Ctr, Shanghai 200030, Peoples R China
3. Chinese Acad Sci, SIBS, Inst Nutr Sci, Shanghai, Peoples R China
4. Shanghai Zhabei Inst Mental Hlth, Shanghai, Peoples R China
5. Shanghai Yangpu Inst Mental Hlth, Shanghai, Peoples R China
6. Shanghai Changning Inst Mental Hlth, Shanghai, Peoples R China |
| Publisher: OXFORD UNIV PRESS, GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: 873BL |
| ISSN: 0964-6906 |
| DOI: 10.1093/hmg/ddh322 |
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