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  1. Association of BDNF Polymorphisms with the Risk of Epilepsy: a Multicenter Study
    Sha'ari HM, Haerian BS, Baum L, Tan HJ, Rafia MH, Kwan P, et al.
    Mol Neurobiol, 2016 07;53(5):2869-2877.
    PMID: 25876511 DOI: 10.1007/s12035-015-9150-1
    Epilepsy is a common neurological disease characterized by recurrent unprovoked seizures. Evidence suggested that abnormal activity of brain-derived neurotrophic factor (BDNF) contributes to the pathogenesis of epilepsy. Some previous studies identified association between genetic variants of BDNF and risk of epilepsy. In this study, this association has been examined in the Hong Kong and Malaysian epilepsy cohorts. Genomic DNA of 6047 subjects (1640 patients with epilepsy and 4407 healthy individuals) was genotyped for rs6265, rs11030104, rs7103411, and rs7127507 polymorphisms by using Sequenom MassArray and Illumina HumanHap 610-Quad or 550-Duo BeadChip arrays techniques. Results showed significant association between rs6265 T, rs7103411 C, and rs7127507 T and cryptgenic epilepsy risk (p = 0.00003, p = 0.0002, and p = 0.002, respectively) or between rs6265 and rs7103411 and symptomatic epilepsy risk in Malaysian Indians (TT vs. CC, p = 0.004 and T vs. C, p = 0.0002, respectively) as well as between rs6265 T and risk of cryptogenic epilepsy in Malaysian Chinese (p = 0.005). The Trs6265-Crs7103411-Trs7127507 was significantly associated with cryptogenic epilepsy in Malaysian Indians (p = 0.00005). In conclusion, our results suggest that BDNF polymorphisms might contribute to the risk of epilepsy in Malaysian Indians and Chinese.
  2. Potential role of regulatory DNA variants in modifying the risk of severe cutaneous reactions induced by aromatic anti-seizure medications
    Mullan KA, Anderson A, Shi YW, Ding JH, Ng CC, Chen Z, et al.
    Epilepsia, 2022 Feb 16.
    PMID: 35170024 DOI: 10.1111/epi.17182
    OBJECTIVE: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe cutaneous adverse drug reactions. Antiseizure medications (ASMs) with aromatic ring structure, including carbamazepine, are among the most common culprits. Screening for human leukocyte antigen (HLA) allele HLA-B*15:02 is recommended prior to initiating treatment with carbamazepine in Asians, but this allele has low positive predictive value.

    METHODS: We performed whole genome sequencing and analyzed 6 199 696 common variants among 113 aromatic ASM-induced SJS/TEN cases and 84 tolerant controls of Han Chinese ethnicity.

    RESULTS: In the primary analysis, nine variants reached genome-wide significance (p 

  3. Fulltext CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis
    Leung GK, Ying D, Mak CC, Chen XY, Xu W, Yeung KS, et al.
    Mol Genet Genomic Med, 2017 Jan;5(1):40-49.
    PMID: 28116329 DOI: 10.1002/mgg3.258
    Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation.
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