The rs251684 Variant of PLA2G4C Is Associated with Autism Spectrum Disorder in the Northeast Han Chinese Population.
OBJECTIVE
To investigate the association between autism spectrum disorder (ASD) and the phospholipase A2 group IVC (PLA2G4C) and phospholipase A2 group XIIA (PLA2G12A) polymorphisms in the Northeast Han Chinese population.


METHODS
A total of 68 family trios (children diagnosed with ASD and their unaffected parents) were enrolled. Five single-nucleotide polymorphisms (SNPs) (rs9226, rs1045376, rs251684, rs2307279, and rs156631) in PLA2G4C and four SNPs (rs6533451, rs2285714, rs2285713, and rs11728699) in PLA2G12A were selected and genotyped. The association between the SNPs and ASD was analyzed using the transmission disequilibrium test.


RESULTS
Our results showed a significant association between ASD and the rs251684 variant of PLA2G4C (transmitted/nontransmitted = 36/21, χ2= 3.947, p = 0.047), but no association between ASD and the other eight SNPs investigated (all p > 0.05). Moreover, we found no preference in the transmission of haplotypes constructed for either PLA2G4C or PLA2G12A.


CONCLUSIONS
The rs251684 polymorphism of PLA2G4C may be associated with ASD risk.
1 Department of Pediatrics, The First Hospital of Jilin University , Changchun, China .
Shicheng
S
Liu
2 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University , Changchun, China .
Shuang
S
Qiu
2 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University , Changchun, China .
Yuping
Y
Lu
2 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University , Changchun, China .
Joseph Sam
JS
Kanu
2 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University , Changchun, China .
Ri
R
Li
2 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University , Changchun, China .
Ye
Y
Bai
3 The Key Laboratory of Molecular Epigenetics of Ministry of Education, Institute of Cytology and Genetics, Northeast Normal University , Changchun, China .
Xiaojuan
X
Zhu
4 The Second Department of Pediatrics, The First Hospital of Jilin University , Changchun, China .
Jie
J
Lei
4 The Second Department of Pediatrics, The First Hospital of Jilin University , Changchun, China .
Naijun
N
Xu
2 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University , Changchun, China .
Yaqin
Y
Yu
2 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University , Changchun, China .
Yawen
Y
Liu
4 The Second Department of Pediatrics, The First Hospital of Jilin University , Changchun, China .
Huiyi
H
Jiang
D000328:Adult; D044466:Asian People / Q000235:genetics; D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002681:China; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D054513:Group IV Phospholipases A2 / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
C472331:PLA2G4C protein, human; D054513:Group IV Phospholipases A2
ASD; phospholipase A2 group IVC; phospholipase A2 group XIIA; single nucleotide polymorphism; transmission disequilibrium test