Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.

Abstract	Adaptor protein complex 4 (AP-4) plays a key role in vesicle formation, trafficking, and sorting processes that are critical for brain development and function. AP-4 consists of four subunits encoded by the AP4E1, AP4B1, AP4M1, and AP4S1 genes. A number of studies have pointed to the involvement of AP-4-mediated vesicular trafficking pathways in the etiology of cerebral palsy (CP), the most notable of which are the causative mutations that have recently been identified in each of the AP-4 genes in different CP families. We postulated, therefore, that variations in AP-4 genes might influence an indivual's susceptibility to CP. In the present study, 16 SNPs were genotyped among 517 CP patients and 502 healthy controls from the Han Chinese population. We systematically analyzed the association of the AP4E1, AP4B1, AP4M1, and AP4S1 genes with CP on the basis of clinical characteristics. No significant associations were found between these variants and the overall risk of CP. Subgroup analysis showed that rs1217401 of AP4B1 was significantly associated with CP as a sequela of hypoxic-ischemic encephalopathy (HIE) (CP + HIE) (allele: p = 0.042151; genotype: p = 4.46 × 10(-6)). Our results indicate that the 16 variants studied in the genes of the four subunits of AP-4 have no detectable effects on the overall susceptibility to CP, but AP4B1 appears to be a susceptibility gene for CP + HIE in the Han Chinese population.
Authors	Honglian Wang, Yiran Xu, Mingjie Chen, Qing Shang, Yanyan Sun, Dengna Zhu, Lei Wang, Zhiheng Huang, Caiyun Ma, Tongchuan Li, Lin He, Qinghe Xing, Changlian Zhu
Journal	Molecular biology reports (Mol Biol Rep) Vol. 40 Issue 11 Pg. 6459-67 (Nov 2013) ISSN: 1573-4978 [Electronic] Netherlands
PMID	24065543 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Adaptor Protein Complex 4
Topics	Adaptor Protein Complex 4 (genetics) Adolescent Adult Alleles Asian People (genetics) Case-Control Studies Cerebral Palsy (diagnosis, genetics) Child Child, Preschool China Female Gene Frequency Genetic Association Studies Genotype Humans Male Odds Ratio Polymorphism, Single Nucleotide Young Adult

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!