Nevin Manimala Statistics

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

Brain Behav. 2022 Jun 8:e2637. doi: 10.1002/brb3.2637. Online ahead of print.


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.

PMID:35678015 | DOI:10.1002/brb3.2637

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