在甲状腺功能障碍的新陈代谢和人类学中TAS2R38基因单核酸多态的影响
Marta Mendes Costa1, Alda Pereira Da Silva1,2, Carolina Santos1
1Ecogenetics and Human Health Unity, Institute for Environmental Health (ISAMB), Genetics Laboratory, Associate Laboratory TERRA, Faculty of Medicine, Lisbon University, 1649-028 Lisbon, Portugal.
Nutrients
|July 11, 2023
概括
TAS2R38基因影响甲状腺功能和身体组成. 特定的基因型,如A262V-氨酸-氨酸,增加甲状腺功能障碍的风险,而其他,如PAV和A262V-氨酸-氨酸,提供保护.
科学领域:
- 遗传学和内分泌学
- 分子生物学分子生物学
- 人体生理学 人体生理学
背景情况:
- 该TAS2R38基因编码一个苦味受体,与单核酸多态 (SNPs) 如P49A,A262V和V296I影响味觉.
- 这些SNP导致不同的基因型,例如PAV (proline-alanine-valine) 对于苦味品尝者和AVI (alanine-valine-isoleucine) 对于非品尝者.
- 甲状腺功能,新陈代谢和身体组成都是由遗传和环境因素影响的复杂特征.
研究的目的:
- 为了研究TAS2R38基因多态和甲状腺功能之间的关联.
- 探索TAS2R38基因型与各种代谢和人类学参数之间的关系.
- 为了确定特定的TAS2R38基因型是否会对甲状腺功能障碍产生倾向或保护.
主要方法:
- 使用终点分析对TAS2R38SNP (P49A,A262V,V296I) 的基因定型.
- 通过DXA测量身体成分 (脂肪质量,瘦肉质量).
- 评估代谢参数,包括脂质概况,HbA1c,血糖,胰岛素,HOMA-IR,尿血,血,BMI和瘦素水平.
- 对 ангиотензин转化酶 (ACE) 活性进行分析.
- 使用SPSS进行统计分析,用95%信心区间 (CI) 计算几率比率 (OR).
主要成果:
- A262V-瓦林-瓦林基因型显示出与甲状腺功能低下症 (OR = 2.841) 和甲状腺功能增加症 (OR = 8.915) 显著相关.
- A262V-氨酸-氨酸和PAV基因型显示出对甲状腺功能障碍的保护作用 (分别为OR=0.467和OR=0.456).
- 特定的基因型与身体组成的变化有关 (例如,V296I-氨酸-异黄素具有更高的脂肪质量百分比) 和代谢标记 (例如,AVI具有更高的勒,A262V-氨酸-氨酸具有更高的HbA1c).
结论:
- TAS2R38基因多态性显著影响甲状腺功能,身体组成和代谢概况.
- 苦味感知基因型,特别是PAV和A262V-氨酸-氨酸,似乎可以防止甲状腺功能障碍.
- 基因型AVV,PVV和A262V-瓦林-瓦林可能会增加对甲状腺功能障碍的易感性,PVV特别与甲状腺功能障碍有关.
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