新疆地区基因多态性与克汀病关系的病例对照研究

A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang.

作者信息

Huang Jia, Wu Haiyan, Zhao Guiqiang, Ma Yan, An Yunping, Sun Li, Li Fuye, Wang Shengling

机构信息

Department of Public Health, Xinjiang Medical University, Urumqi, Xinjiang, 830054, People's Republic of China.

Division of Endemic Disease Prevention, Xinjiang Uygur Autonomous Region Center for Disease Control and Prevention, Urumqi, Xinjiang, 830002, People's Republic of China.

出版信息

Pharmgenomics Pers Med. 2023 Aug 23;16:785-794. doi: 10.2147/PGPM.S418722. eCollection 2023.

DOI:10.2147/PGPM.S418722

PMID:37641720

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10460608/

Abstract

BACKGROUND

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.

METHODS

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 , and in all participants. We compared genotype and allele frequencies between cases and controls utilizing the chi-squared test, logistic regression analysis, and haplotype analysis.

RESULTS

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).

CONCLUSION

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

背景

克汀病是先天性甲状腺功能减退症的一种亚型，是一种由于甲状腺激素分泌不足或受体缺陷导致的内分泌疾病。基因异常在甲状腺功能障碍的发生发展中起主要作用。

方法

我们从新疆维吾尔自治区招募了183名克汀病患者和119名健康参与者，并在所有参与者中随机选择了29个标签单核苷酸多态性（tSNP）。我们使用卡方检验、逻辑回归分析和单倍型分析比较了病例组和对照组之间的基因型和等位基因频率。

结果

使用卡方检验，发现一个单核苷酸多态性与克汀病相关（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）。我们对神经型、黏液水肿型和混合型进行分层，并确定在将黏液水肿型与神经型进行比较时，另一个单核苷酸多态性与更高的风险相关（rs2277923）。