The 904th Hospital (Changzhou Branch) of Joint Logistic Support Force of Chinese People's Liberation Army, Changzhou, Jiangsu Province, China.
DNA Laboratory, Public Security Bureau of Changzhou, Changzhou, Jiangsu Province, China.
Brain Behav. 2022 Jul;12(7):e2637. doi: 10.1002/brb3.2637. Epub 2022 Jun 8.
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.
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.
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).
Polymorphisms of the D13S317 and D5S818 loci may be predisposing factors for schizophrenia.
几十年来，人们已经了解到精神分裂症的遗传性和家族性传播。男性特有的 Y 染色体在精神分裂症的发展中起着重要作用。短串联重复序列（STRs）已被认为是精神分裂症发展的风险基因。在这里，我们研究了男性精神分裂症与 Y 染色体 STR 位点之间的关联。
我们招募了 355 名精神分裂症患者和 473 名健康男性进行体检，并使用 PowerPlex 21 系统荧光标记复合扩增系统对他们进行扩增。然后，通过电泳分离得到的产物，并进一步检测。最后，观察 STR 位点等位基因和基因型频率分布的差异。
我们的结果表明，所有 20 个 STR 位点均符合 Hardy-Weinberg 定律（p>.05）。两组之间 D13S317 和 D5S818 位点的等位基因和基因型频率分布存在统计学差异（等位基因：p=.039，p=.022；基因型：p=.0004，p=.011）。然而，两组之间其他 18 个常染色体 STR 位点没有差异（p>.05）。单变量分析表明，两组之间 D13S317 位点等位基因 11 和基因型 10-11 的频率分布差异具有显著性（与对照组相比，p=0.005，优势比（OR）=1.37，95%置信区间（CI）=1.10-1.71，与对照组相比，p=0.0000002，OR=3.92，95%CI=2.27-6.77）。两组之间 D5S818 位点等位基因 7 和基因型 7-10 的频率分布差异具有显著性（与对照组相比，p=0.0006，OR=3.42，95%CI=1.63-7.16，与对照组相比，p=0.0011，OR=8.24，95%CI=1.83-37.05）。
D13S317 和 D5S818 位点的多态性可能是精神分裂症的易感因素。
