nogo基因插入/缺失多态性与慢性精神分裂症的性别特异性关联

Ene-Choo Tan , Siow-Ann Chong , Hanhui Wang , Eileen Chew-Ping Lim , Yik-Ying Teo
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引用次数: 37

摘要

Nogo是一种髓鞘相关蛋白,与神经突生长和再生有关。先前的一项研究报道了插入/删除多态性与精神分裂症之间的关联。我们测试了这种多态性和单倍型的分布,以及另一种插入/删除多态性在我们的群体中的分布。我们还开发了一种结合等位基因特异性聚合酶链反应(AS-PCR)和限制性片段长度多态性(RFLP)的检测方法,以同时对这两种插入/删除多态性进行分型。女性亚组CAA多态性(χ2 = 4.378, df = 1, P值= 0.036)和TATC多态性(χ2 = 5.807, df = 1, P = 0.016)在等位基因水平上差异有统计学意义,而男性亚组差异无统计学意义。通过基因分型方法,我们还确定了分子单倍型。在女性中,CAACAA-TATC的优势比为1.57 (95% CI 1.05-2.37), CAACAA-TATC的优势比为1.40 (95% CI 0.55-3.60),这两种风险单倍型。保护性野生型单倍型CAA-TATCTATC的优势比为0.63 (95% CI 0.42-0.93)。进一步研究这两种多态性,以探讨其功能意义并确认其性别特异性关联。
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Gender-specific association of insertion/deletion polymorphisms in the nogo gene and chronic schizophrenia

Nogo is a myelin-associated protein associated with neurite outgrowth and regeneration. A previous study has reported an association between an insertion/deletion polymorphism in schizophrenia. We tested for the distribution of the polymorphism and haplotypes of this and another insertion/deletion polymorphism in our population. We have also developed an assay combining allele-specific polymerase chain reaction (AS-PCR) and restriction fragment length polymorphism (RFLP) to simultaneously type these two insertion/deletion polymorphisms. There was a statistically significant difference at the allelic level for both the CAA (χ2 = 4.378, df = 1, P value = 0.036) and TATC (χ2 = 5.807, df = 1, P = 0.016) polymorphisms in the female subgroup, but not in males. With our genotyping method, we also determined the molecular haplotype. Within the female gender, odds ratio is at 1.57 (95% CI 1.05–2.37) for CAACAA-TATC and 1.40 (95% CI 0.55–3.60) for CAA-TATC, the two at-risk haplotypes. Odds ratio is 0.63 (95% CI 0.42–0.93) for the protective wildtype haplotype CAA-TATCTATC. Further study of these two polymorphisms to investigate functional significance and confirm gender-specific association should be carried out.

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