Association of genetic variants in the promoter and start codon of PPARγ2 with Gestational diabetes mellitus in Chinese population
Refereed conference paper presented and published in conference proceedings

香港中文大學研究人員

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摘要Background: Peroxisome proliferator-activated receptor γ2 (PPARγ2) is a nuclear hormone receptor of ligand- ependent transcription factor with a key role in adipogenesis and insulin sensitization in the pathogenesis of diabetes mellitus. Previous reports identified association of PPARγ2 polymorphisms with gestational diabetes mellitus (GDM), while our meta-analysis confirmed the association was significant only in Asian population, but not in Caucasians population. We hypothesised that genetic variants in PPARγ2 promoter and start codon are linked and associated with susceptibility of GDM and determine insulin sensitivity during pregnancy. Objective: To detect genetic variants by target sequencing in promoter and start codon of PPARγ2 and determine its linkage disequilibrium and association with GDM in Chinese population. Methods: PPARγ2 promoter and start codon (-2091 to +82 bp) of 400 GDM and 400 gestational-age matched control samples from Guangzhou cohort were sequenced. Haploview estimated the linkage disequilibrium of the identified SNPs. Results: We identified 15 variants. 7 common variants were not significantly associated with GDM (OR 0.710-1.208, 95%CIs 0.445-0.877 to 1.132-1.664, P0.05) but showed significant linkage disequilibrium (D`0.7, R 0.9). However T-A-A-T-G haplotype were not significantly associated with GDM (χ =2.461, P=0.117). 5 rare variants were found in either control or/and GDM, but 3 novel variants -807 A/C, -1769 A/T and -1789 A/C were found only in GDM. Conclusion: Most of the genetic polymorphisms in promoter and start codon of PPARγ2 gene were not significantly associated with the risk of GDM in southern Chinese population. Novel SNPs
in GDM were newly discovered further molecular and functional characterisation is needed.
著者Wu L., Zhang J., Hou H. Y.,Wang C. C.
會議名稱The 9th International Symposium on Diabetes, Hypertension, Metabolic Syndrome and Pregnancy, DIP 2017
會議開始日08.03.2017
會議完結日12.03.2017
會議地點Barcelona
會議國家/地區西班牙
出版年份2017
語言美式英語

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