The association of 20 short tandem repeat loci of autosomal chromosome with male schizophrenia

Abstract

Introduction: Schizophrenia's heritability and familial transmission have been known for several decades. The male-specific Y chromosome plays an important role in schizophrenia. Short tandem repeats (STRs)have been recognized as risk genes in the development of schizophrenia. Here, we investigated the association between male schizophrenia and Y-chromosomal STRs loci. Methods: We recruited 355 patients with schizophrenia and 473 healthy males for physical examination and amplified them with a PowerPlex 21 System fluorescence-labeled composite amplification System. Then, the resultant products were separated by electrophoresis and further detected. Finally, differences in allele and genotype frequency distributions of STR loci were observed. Results: Our results showed that all 20 STR loci were in accordance with Hardy–Weinberg's law (p >.05). There were statistically significant differences in alleles of D13S317 and D5S818 loci and genotype frequency distribution between the two groups (alleles: p =.039, p =.022, respectively; genotype: p =.0004, p =.011, respectively). However, there was no difference in the other autosomal 18 STR loci between the two groups (p >.05). Univariate analysis showed that the frequency distribution differences of allele 11 and genotype 10-11 at the D13S317 locus between the two groups were significant (compared to the controls, p = 0.005, odds ratio (OR) = 1.37, 95%b confidence interval (CI) = 1.10–1.71, compared to the controls, p =.0000002, OR = 3.92, 95% CI = 2.27–6.77, respectively). The frequency distribution differences of allele 7 and genotype 7-10 at D5S818 between the two groups were significant (compared to the controls, p =.0006, OR = 3.42, 95% CI = 1.63–7.16, compared to the controls, p =.0011, OR = 8.24, 95% CI = 1.83–37.05, respectively). Conclusion: Polymorphisms of the D13S317 and D5S818 loci may be predisposing factors for schizophrenia.