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

IF 1.8 4区医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI:10.2147/PGPM.S418722

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

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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 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.

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.

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新疆地区遗传多态性与克汀病关系的病例对照研究。

背景:克汀病是先天性甲状腺功能减退症的一种亚型，是一种由甲状腺激素分泌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障碍的发展中起着重要作用。方法:从新疆维吾尔自治区招募克汀病患者183例和健康人群119例，随机选取TSHB、PAX8、TPO、NKX2-5和TSHR基因29个标签单核苷酸多态性(tsnp)。我们利用卡方检验、逻辑回归分析和单倍型分析比较了病例和对照组之间的基因型和等位基因频率。结果: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)。我们将神经型、黏液性水肿型和混合型分层，并在比较黏液性水肿型和神经型时确定另一个SNP与更高的风险相关(rs2277923)。结论:rs3754363对克汀症患者有统计学意义上的保护作用，而rs2277923可能对神经克汀症的发展有更大的促进作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

3.30

自引率

5.30%

发文量

110

审稿时长

16 weeks

期刊介绍： Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.