Department of Epidemiology, Shanxi Medical University School of Public Health, Center of Clinical Epidemiology and Evidence-Based Medicine, 56 Xinjian South Road, Taiyuan, 030001, Shanxi, China.
National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
J Assist Reprod Genet. 2021 Jul;38(7):1861-1869. doi: 10.1007/s10815-021-02143-y. Epub 2021 Mar 9.
Gestational diabetes mellitus (GDM) is a growing public health problem worldwide and its etiology remains unclear. The pathophysiology of GDM is similar to that of type 2 diabetes (T2DM) and insulin resistance (IR) is the main reason for the development of GDM. Carnitine palmitoyltransferase 1A (CPT1A) is a candidate gene for metabolic disorders; however, the association of the CPT1A gene and GDM has not yet been studied. We aimed to explore whether single-nucleotide polymorphisms (SNPs) of the CPT1A gene could influence the risk of GDM.
We examined 18 single-nucleotide polymorphisms (SNPs) in the CPT1A gene and the risk of GDM in a nested case-control study of 334 GDM patients and 334 controls. The controls who had no GDM were randomly selected through matching to cases by age and residence.
After adjusting the family history of diabetes, pre-pregnancy body mass index, and multiple comparison correction, the CPT1A rs2846194 and rs2602814 were associated with reduced GDM risk while rs59506005 was associated with elevated GDM risk. Moreover, the GGAC haplotype in the CPT1A gene (rs17399246 rs1016873 rs11228450 rs10896396) was associated with a reduced risk of GDM.
Our study provides evidence for an association between genetic polymorphisms in the CPT1A and the risk of GDM.
妊娠糖尿病（GDM）是一个全球性的日益严重的公共卫生问题，其病因尚不清楚。GDM 的病理生理学与 2 型糖尿病（T2DM）相似，胰岛素抵抗（IR）是 GDM 发展的主要原因。肉毒碱棕榈酰转移酶 1A（CPT1A）是代谢紊乱的候选基因；然而，CPT1A 基因与 GDM 的关联尚未得到研究。我们旨在探讨 CPT1A 基因的单核苷酸多态性（SNPs）是否会影响 GDM 的发病风险。
我们在一项 334 例 GDM 患者和 334 例对照的巢式病例对照研究中，检测了 CPT1A 基因中的 18 个单核苷酸多态性（SNPs）与 GDM 的风险。通过按年龄和居住地与病例匹配，随机选择没有 GDM 的对照者。
在调整糖尿病家族史、孕前体重指数和多次比较校正后，CPT1A rs2846194 和 rs2602814 与 GDM 发病风险降低相关，而 rs59506005 与 GDM 发病风险升高相关。此外，CPT1A 基因中的 GGAC 单倍型（rs17399246 rs1016873 rs11228450 rs10896396）与 GDM 的发病风险降低相关。
本研究为 CPT1A 基因遗传多态性与 GDM 发病风险之间的关联提供了证据。
