Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals · 2014
Association between polymorphisms in AXIN1 gene and atrial septal defect.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Pu Yan, Chen Peng, Zhou Bin, Wang Yanyun, Song Yaping, Peng Ying, Rao Li, Zhang Lin
Аннотация
CONTEXT: AXIN1 is a central component of Wnt signalling pathway which is essential for embryonic development.
OBJECTIVE: To investigate whether polymorphisms of AXIN1 contribute to ASD susceptibility.
MATERIALS AND METHODS: Three tag SNPs (rs12921862, rs370681 and rs1805105) in AXIN1 were genotyped in 208 ASD patients and 302 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in a Chinese population.
RESULTS: Significantly increased ASD risk was observed to be associated with the A allele of rs12921862 (p < 0.0001, OR = 3.096, 95% CI = 2.037-4.717). Increased ASD risk was observed to be associated with rs370681 in a codominant (p = 0.043, OR = 1.52, 95% CI = 1.04-2.22) and overdominant model (p = 0.016, OR = 1.57, 95% CI = 1.08-2.27).
CONCLUSION: rs12921862 and rs370681 may contribute to ASD susceptibility.
OBJECTIVE: To investigate whether polymorphisms of AXIN1 contribute to ASD susceptibility.
MATERIALS AND METHODS: Three tag SNPs (rs12921862, rs370681 and rs1805105) in AXIN1 were genotyped in 208 ASD patients and 302 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in a Chinese population.
RESULTS: Significantly increased ASD risk was observed to be associated with the A allele of rs12921862 (p < 0.0001, OR = 3.096, 95% CI = 2.037-4.717). Increased ASD risk was observed to be associated with rs370681 in a codominant (p = 0.043, OR = 1.52, 95% CI = 1.04-2.22) and overdominant model (p = 0.016, OR = 1.57, 95% CI = 1.08-2.27).
CONCLUSION: rs12921862 and rs370681 may contribute to ASD susceptibility.