The rs251684 Variant of PLA2G4C Is Associated with Autism Spectrum Disorder in the Northeast Han Chinese Population.
AIM
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.


MATERIALS AND 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.


CONCLUSION
The rs251684 polymorphism of PLA2G4C may be associated with ASD risk.
['Liu|Shicheng|S|', 'Qiu|Shuang|S|', 'Lu|Yuping|Y|', 'Kanu|Joseph Sam|JS|', 'Li|Ri|R|', 'Bai|Ye|Y|', 'Zhu|Xiaojuan|X|', 'Lei|Jie|J|', 'Xu|Naijun|N|', 'Yu|Yaqin|Y|', 'Liu|Yawen|Y|', 'Jiang|Huiyi|H|']
D000328:Adult D044466:Asians D000067877:Autism Spectrum Disorder D002648:Child D002675:Child, Preschool D002681:China D005006:Ethnicity D005260:Female D005787:Gene Frequency D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D054513:Group IV Phospholipases A2 D006801:Humans D015810:Linkage Disequilibrium D008297:Male D008875:Middle Aged D020641:Polymorphism, Single Nucleotide
ASD phospholipase A2 group IVC phospholipase A2 group XIIA transmission disequilibrium test single nucleotide polymorphism