RESUMO
INTRODUCTION: CDKAL1 single-nucleotide polymorphism rs 9465871variant is a risk locus for Type 2 Diabetes (T2DM).The study evaluated the associations of CDKAL1- rs9465871 with glycosylated hemoglobin A1C Level (HbA1c), fasting insulin level, insulin resistance and metabolic syndrome among obese and non- obese Egyptian children. MATERIALS AND METHODS: The study included 43 obese children and 40 normal weight children. Anthropometric body measurements, bio-specimen and biochemistry assays were done. Genotyping of rs9465871 (CDKAL1) was conducted. RESULTS: The percentages of the CC, CT, and TT genotypes of rs9465871in the lean children were 15%, 42.5%, and 42.5%, respectively. Regarding obese children, the frequencies were 18.6%, 58.1% and 23.3% respectively with no significant statistical difference. Comparison between the CDKAL1 rs 9465871 polymorphism showed that the highest value of fasting insulin was recorded in CC genotype (22.80± 15.18 [uIU/mL] P<.014). Levels of HOMA-IR, FBS and HBA1C were highest in CC group with no statistical significant differences. However, fasting insulin level was higher in the CC group than in the TT+ CT group (P<.01). A higher level of HbA1c was found among CC group at CDKAL1-rs9465871 (5.9%) than TT+CT genotype group (5.6%), with no statistical significant difference. There was increase in the risk of type 2 diabetes the percentages were 78.6% and 46.4% respectively when comparing CC with TT+CT genotype groups ( P<.039). CC group was not associated with significant increase in metabolic syndrome. CONCLUSION: There is a significant risk association between CDKAL1-rs9465871polymorphism and development of T2DM in a subset of the Egyptian children.