The association between GAD1 gene polymorphisms and cerebral palsy in Chinese infants

LIN SHEYU, LI TONGCHUAN, ZHU DENGNAN, MA CAIYUN, WANG YINGHONG, HE LIN, ZHU CHANGLIAN, AND XING QINGHE

Studies suggest that GAD1 gene was a functional candi-date susceptibility gene for cerebral palsy (CP). In order to investigate the contribution of GAD1 gene to the etiology of CP in Chinese infants, we carried out a case-control association study between GAD1 gene and CP. In this study, 374 health controls and 392 infants with CP were recruited. Genomic DNA was extracted from venous blood and all three single nucleotide polymorphisms in GAD1 (rs3791874, rs3791862 and rs16858977) were genotyped by Sequenom’s MassARRAY system. There were no significant differences in allele or genotype frequencies between CP or mixed CP patients and controls at any of the three genetic polymorphisms. Through haplotype analysis we found that haplotype GG (rs3791862, rs16858977) frequency demon-strated significantly statistical difference between mixed CP patients and controls (p= 0.0371). Our positive findings of haplotype GG suggested that variation of GAD1 gene was an important risk factor for mixed CP.

Key words: glutamate decarboxylase 1; single nucleotide polymorphism; haplotype; mixed CP.

Tsitologiya i Genetika 2013, vol. 47, no. 5, pp. 22-27

• Children’s Hospital of Fudan University, Shanghai, China
• Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, China
• Department of Pediatrics, Zhengzhou Children’s Hospital, Zhengzhou, China
• Department of Pediatrics, the First Affiliated Hospital, Henan Traditional Chinese Medical College, Zhengzhou, China

E-mail: linsheyu yeah.net

LIN SHEYU, LI TONGCHUAN, ZHU DENGNAN, MA CAIYUN, WANG YINGHONG, HE LIN, ZHU CHANGLIAN, AND XING QINGHE The association between GAD1 gene polymorphisms and cerebral palsy in Chinese infants, Tsitol Genet., 2013, vol. 47, no. 5, pp. 22-27.