ABSTRACT
Previous studies on the association between apolipoprotein E (APOE) alleles and Parkinson's disease (PD) have shown contradictory results. A recent study showed that APOE is involved in a molecular pathway of α-synuclein-induced neurodegeneration. We therefore conducted the first Thai study on APOE genotypes in patients with PD. We analysed the frequencies of APOE genotypes in our case-control study of 155 patients with sporadic PD and 158 control participants. We identified a higher frequency of the APOE-ε2 allele among patients with PD than among controls (odds ratio=2.309, 95% confidence interval=1.111-4.799). Genetic association is a powerful tool for detecting disease susceptibility alleles, but there are many pitfalls to consider before claiming any association. The discrepancy among the results of the genetic association studies of APOE genotypes as a risk of susceptibility to PD emphasises that this association merits clarification by the study of a single large homogeneous population.
Subject(s)
Apolipoproteins E/genetics , Genetic Association Studies , Parkinson Disease/genetics , Adult , Aged , Aged, 80 and over , Asian People/genetics , Case-Control Studies , Cohort Studies , Female , Genetic Association Studies/methods , Genotype , Humans , Male , Middle Aged , Parkinson Disease/diagnosis , Parkinson Disease/ethnology , Thailand/ethnologyABSTRACT
Oculopharyngeal muscular dystrophy (OPMD) is an inherited neuromuscular disease associated with a short trinucleotide repeat expansion in Exon 1 of the PABPN1 gene. OPMD is uncommon in East Asian populations, and there have been no previous reports of Thai patients. We studied clinical and molecular genetic features of six unrelated Thai patients with autosomal dominant OPMD. All patients had expansions of the guanine-cytosine-guanine (GCG) repeat ranging from three to seven additional repeats in the PABPN1 gene. Haplotype analysis showed that these mutations might have originated independently. Analysis of the size of the GCG repeat in the PABPN1 gene in 200 Thai control patients showed that 0.5% of the control subjects possessed (GCG)(7), thereby suggesting that the prevalence of autosomal recessive OPMD in the Thai population was approximately 1 in 160,000. In conclusion, our data suggest that OPMD in Thailand may be more common than previously thought.
Subject(s)
Haplotypes , Muscular Dystrophy, Oculopharyngeal/genetics , Mutation , Poly(A)-Binding Protein II/genetics , Trinucleotide Repeat Expansion/genetics , Adult , Asian People/genetics , Female , Humans , Male , Middle Aged , ThailandABSTRACT
Myotonic dystrophy (DM) is frequently associated with large expansions of the cytosine-thymine-guanine (CTG) repeat in the myotonic dystrophy protein kinase gene (DMPK). The frequency of distribution of the CTG repeat length in normal alleles of several populations is well correlated with the prevalence of DM. Therefore, we studied the CTG repeat length of the DMPK gene in DM patients and controls in Thailand. Only seven typical patients with DM from six unrelated families were identified, all with large pathological CTG repeat expansions (> 400 repeats) in the DMPK gene. Only 2.75% of controls had normal CTG repeat alleles > 18 repeats. The frequency distribution of the CTG-repeat alleles in the normal Thai population is similar to that of the Taiwanese population (χ² with Yates correction = 1.393; p = 0.2379). These data suggest that the incidence of DM might be rare in Thailand, where the risk of developing DM is possibly similar to that in Taiwan.
