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本文引用的文献

1
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.罕见的 MTNR1B 变异会损害褪黑素受体 1B 的功能,从而导致 2 型糖尿病。
Nat Genet. 2012 Jan 29;44(3):297-301. doi: 10.1038/ng.1053.
2
A genome-wide association study of gestational diabetes mellitus in Korean women.一项针对韩国女性妊娠期糖尿病的全基因组关联研究。
Diabetes. 2012 Feb;61(2):531-41. doi: 10.2337/db11-1034. Epub 2012 Jan 10.
3
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.编码人葡萄糖激酶调节蛋白的基因中的稀有编码变异与表型、细胞和动力学结果的相关性。
J Clin Invest. 2012 Jan;122(1):205-17. doi: 10.1172/JCI46425. Epub 2011 Dec 19.
4
Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a Chinese population.六个单核苷酸多态性与中国人群妊娠期糖尿病的关联。
PLoS One. 2011;6(11):e26953. doi: 10.1371/journal.pone.0026953. Epub 2011 Nov 11.
5
Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.与 2 型糖尿病风险相关的 GCKR P446L 变异体的细胞特征。
Diabetologia. 2012 Jan;55(1):114-22. doi: 10.1007/s00125-011-2348-5. Epub 2011 Oct 25.
6
New type 2 diabetes risk genes provide new insights in insulin secretion mechanisms.新型 2 型糖尿病风险基因为胰岛素分泌机制提供新见解。
Diabetes Res Clin Pract. 2011 Aug;93 Suppl 1:S9-24. doi: 10.1016/S0168-8227(11)70008-0.
7
Gestational diabetes mellitus is associated with TCF7L2 gene polymorphisms independent of HLA-DQB1*0602 genotypes and islet cell autoantibodies.妊娠期糖尿病与 TCF7L2 基因多态性相关,与 HLA-DQB1*0602 基因型和胰岛细胞自身抗体无关。
Diabet Med. 2011 Sep;28(9):1018-27. doi: 10.1111/j.1464-5491.2011.03359.x.
8
Melatonin receptor 1 B polymorphisms associated with the risk of gestational diabetes mellitus.褪黑素受体 1B 多态性与妊娠期糖尿病发病风险的关联。
BMC Med Genet. 2011 Jun 10;12:82. doi: 10.1186/1471-2350-12-82.
9
Triglyceride response to an intensive lifestyle intervention is enhanced in carriers of the GCKR Pro446Leu polymorphism.携带 GCKR Pro446Leu 多态性的个体对强化生活方式干预的甘油三酯反应增强。
J Clin Endocrinol Metab. 2011 Jul;96(7):E1142-7. doi: 10.1210/jc.2010-2324. Epub 2011 Apr 27.
10
Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the International Association of Diabetes and Pregnancy Study Groups.高血糖与不良妊娠结局(HAPO)研究:GCK 和 TCF7L2 中的常见遗传变异与妊娠时的空腹和餐后血糖水平以及国际糖尿病与妊娠研究组(IADPSG)新的妊娠期糖尿病共识定义相关。
Diabetes. 2010 Oct;59(10):2682-9. doi: 10.2337/db10-0177. Epub 2010 Aug 3.

母体基因型与妊娠期糖尿病。

Maternal genotype and gestational diabetes.

机构信息

Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Department of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

出版信息

Am J Perinatol. 2014 Jan;31(1):69-76. doi: 10.1055/s-0033-1334451. Epub 2013 Mar 1.

DOI:10.1055/s-0033-1334451
PMID:23456907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3884679/
Abstract

OBJECTIVE

To determine whether genetic variants associated with glucose homeostasis are associated with gestational diabetes (GDM).

STUDY DESIGN

We genotyped 899 self-identified Caucasian women and 386 self-identified African-American women in the Pregnancy, Infection and Nutrition (PIN) Studies cohorts for 38 single-nucleotide polymorphisms (SNPs) associated with type II diabetes (T2DM) and/or glucose homeostasis in European populations.

RESULTS

GDM was diagnosed in 56 of 899 (6.2%) Caucasian and 24 of 386 (6.2%) African-American women. Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and GCKR rs780094 alleles that are associated with T2DM and fasting glucose in nonpregnant populations. Among African-American participants, we found an increased risk among TSPAN8 rs7961581 C allele homozygotes and reduced risk among carriers of the JAZF1 rs864745 T allele.

CONCLUSION

We found several SNPs that are associated with GDM risk in the PIN cohorts. Maternal genotyping may identify women at risk for impaired gestational glucose tolerance.

摘要

目的

确定与葡萄糖稳态相关的遗传变异是否与妊娠糖尿病(GDM)相关。

研究设计

我们对妊娠、感染和营养(PIN)研究队列中的 899 名自我认定的白种人和 386 名自我认定的非裔美国人进行了基因分型,以确定与 II 型糖尿病(T2DM)和/或欧洲人群葡萄糖稳态相关的 38 个单核苷酸多态性(SNP)。

结果

在 899 名白种人和 386 名非裔美国妇女中,56 名(6.2%)白人妇女和 24 名(6.2%)非裔美国妇女被诊断为 GDM。在白种妇女中,GDM 与 TCF7L2 rs7901695、MTNR1B rs10830963 和 GCKR rs780094 等位基因的携带有关,这些等位基因与非妊娠人群中的 T2DM 和空腹血糖有关。在非裔美国参与者中,我们发现 TSPAN8 rs7961581 C 等位基因纯合子的风险增加,而 JAZF1 rs864745 T 等位基因携带者的风险降低。

结论

我们在 PIN 队列中发现了几个与 GDM 风险相关的 SNP。母体基因分型可能可以识别出有妊娠葡萄糖耐量受损风险的女性。