Abstract：Objective To examine the association between the polymorphism in cyclin dependent kinase inhibitor 2A/2B gene (CDKN2A/2b) and gestational diabetes mellitus (GDM).Methods 56 patients with GDM (GDM group), 108 pregnant women with normal glucose tolerance (normal group), and 98 women with type 2 diabetes (T2DM) were selected in our hospital from December 2014 to 2015 December. DNA was extracted from fasting peripheral blood sample. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method was used to genotype CDKN2A/2b.Results TT, TC, and CC genotypes were observed in CDKN2A/2B gene rsl0811661 locus in all three groups. TT frequency in GDM and T2DM groups was significantly higher than that in the normal group (P<0.05). There was no difference in TT frequency between the GDM and T2DM groups. The normal group showed higher frequency of CC than the GDM group and the T2DM group; the GDM and T2DM groups had no difference. There was no difference in TC frequency among the three groups. T allele frequency was 48.6% in the normal group, which was significantly lower than in the GDM group (61.3%) and in the T2DM group (62.7%); however, the difference between the last two groups was not statistically significant. Correlation analysis showed that T allele was correlated with GDM (r=4.227, P<0.05).Conclusion Polymorphism is present in CDKN2A/2b gene rsl0811661 locus. T allele may be a risk allele for GMD. CDKN2A/2b gene is a predisposing gene for GDM and as well as for T2DM.
1 Diagnostic criteria and classification of hyperglycaemia first detected in pregnancy.Geneva,Switzerland:World Health Organization,2013. 2 申微,郭欣,区小牧.新诊断标准妊娠期糖尿病妊娠结局观察.中华临床医师杂志(电子版),2012,6:3090-3092. 3 International Association of Diabetes and Pregnancy Study Groups,Consensus Panel,Metzger BE,et al.International Association of Diabetes and Pregnancy Study Groups recommendations on the diagnosis and classification of hyperglycemia inpregnancy.Diabetes Care,2010,33:676-682. 4 Cho YM,Kim TH,Lim S,et al.Type 2 diabetes-associated genetic variantsdiscovered in the recent genome-wide association studies are related to gestationaldiabetes mellitus in the Korean population.Diabetologia,2009,52:253-261. 5 陈友,江芳华,徐丛荣,等.新诊断标准下妊娠糖尿病筛查分析.国际检验医学杂志,2013,34:3083-3084. 6 Takeuchi F,Serizawa M,Yamamoto K,et al.Confirmation of multiple risk Lociand genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.Diabetes,2009,58:1690-1699. 7 侯旭奔,方浩,杜金童,等.细胞周期蛋白依赖性激酶抑制剂的临床研究进展.中国新药杂志,2011,20:1280-1286. 8 Xu M,Bi Y,Xu Y,et al.Combined effects of 19 common variations on type 2diabetes in Chinese:results from two community-based studies.PLoS One,2010,5:el4022. 9 Shin HD,Park BL,Shin HJ.Association of KCNQ1 polymorphisms with thegestational diabetes mellitus in Korean women.J Clin Endocrinol Metab,2010,95:445-449. 10 Moritani M,Yamasaki S,Kagami M.Hypoplasia of endocrine and exocrinepancreas in homozygous transgenic TGF-betal.Mol Cell Endocrinol,2015,229:175-184.
