PDF(Pubmed)
Abstract：
UNASSIGNED: Cretinism is a subtype of congenital hypothyroidism, an endocrine disorder resulting from inadequate thyroid hormone production or receptor deficiency. Genetic abnormalities play a major role in the development of thyroid dysfunction.
UNASSIGNED: We recruited 183 participants with cretinism and 119 healthy participants from the Xinjiang Uyghur Autonomous Region and randomly selected 29 tag single nucleotide polymorphisms (tSNPs) in TSHB, PAX8, TPO, NKX2-5, and TSHR in all participants. We compared genotype and allele frequencies between cases and controls utilizing the chi-squared test, logistic regression analysis, and haplotype analysis.
UNASSIGNED: Using the chi-squared test, a single SNP was found to be associated with cretinism (recessive model: rs3754363, OR = 0.46, 95% CI = 0.27-0.80, P = 0.00519; genotype model: P = 0.01677). We stratified neurological, myxedematous, and mixed type and determined that another SNP was associated with a higher risk when comparing myxedematous type to the neurological type (rs2277923).
UNASSIGNED: rs3754363 has a statistically significant protective effect on people with cretinism, while rs2277923 may play a greater role in promoting the development of neurocretinism.
UNASSIGNED: We recruited 183 participants with cretinism and 119 healthy participants from the Xinjiang Uyghur Autonomous Region and randomly selected 29 tag single nucleotide polymorphisms (tSNPs) in TSHB, PAX8, TPO, NKX2-5, and TSHR in all participants. We compared genotype and allele frequencies between cases and controls utilizing the chi-squared test, logistic regression analysis, and haplotype analysis.
UNASSIGNED: Using the chi-squared test, a single SNP was found to be associated with cretinism (recessive model: rs3754363, OR = 0.46, 95% CI = 0.27-0.80, P = 0.00519; genotype model: P = 0.01677). We stratified neurological, myxedematous, and mixed type and determined that another SNP was associated with a higher risk when comparing myxedematous type to the neurological type (rs2277923).
UNASSIGNED: rs3754363 has a statistically significant protective effect on people with cretinism, while rs2277923 may play a greater role in promoting the development of neurocretinism.
摘要：
■克替丁病是先天性甲状腺功能减退症的一种亚型，甲状腺激素产生不足或受体缺乏引起的内分泌紊乱。遗传异常在甲状腺功能异常的发生发展中起主要作用。
■我们从新疆维吾尔自治区招募了183名患有克汀病的参与者和119名健康参与者，并随机选择了TSHB中的29个标签单核苷酸多态性（tSNP），PAX8,TPO,所有参与者的NKX2-5和TSHR。我们使用卡方检验比较了病例和对照之间的基因型和等位基因频率，Logistic回归分析，和单倍型分析。
■使用卡方检验，发现单个SNP与克汀病相关(隐性模型:rs3754363,OR=0.46,95%CI=0.27-0.80,P=0.00519;基因型模型:P=0.01677).我们对神经进行了分层，粘液水肿，和混合型，并确定另一个SNP与较高的风险时，比较粘血性水肿型和神经学型（rs2277923）。
■rs3754363对克汀病患者具有统计学上显著的保护作用，而rs2277923可能在促进神经克耳病的发展中发挥更大的作用。
■我们从新疆维吾尔自治区招募了183名患有克汀病的参与者和119名健康参与者，并随机选择了TSHB中的29个标签单核苷酸多态性（tSNP），PAX8,TPO,所有参与者的NKX2-5和TSHR。我们使用卡方检验比较了病例和对照之间的基因型和等位基因频率，Logistic回归分析，和单倍型分析。
■使用卡方检验，发现单个SNP与克汀病相关(隐性模型:rs3754363,OR=0.46,95%CI=0.27-0.80,P=0.00519;基因型模型:P=0.01677).我们对神经进行了分层，粘液水肿，和混合型，并确定另一个SNP与较高的风险时，比较粘血性水肿型和神经学型（rs2277923）。
■rs3754363对克汀病患者具有统计学上显著的保护作用，而rs2277923可能在促进神经克耳病的发展中发挥更大的作用。
