Objective: To investigate the impact of single nucleotide polymorphisms (SNPs) in APPL1 gene on body fat and its distribution.
Methods: 590 unrelated Shanghai residents of Han nationality, including 358 subjects with normal glucose tolerance (NGT) and 232 subjects with type 2 diabetes mellitus (T2DM), underwent measurement of body mass index (BMI), waist circumference (W), hip circumference (H), and femoral circumference (F). Peripheral blood samples were collected to detect the blood sugar, blood lipids, fasting C - peptide (FCP), fasting insulin (FINS), fasting plasma glucose (FGLU), total cholesterol (TC), and triglyceride (TG) 0 and 120 minutes after glucose challenge. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the 2 SNPs (rs3806622 and rs4640525).
Results: No differences in the frequencies of rs3806622 and rs4640525 genotypes between the subjects with the BMI < 25 kg/m2 and those with the BMI > or = 25 kg/m2 either in the NGT group or T2DM group. The G allele frequencies of the rs3806622 and rs4640525 genotypes in the T2DM patients with longer W values were significantly higher than those in the patients with shorter W value (OR = 2.26, 95% CI 1.05 - 4.86, and OR = 4.3, 95% CI 1.21 - 14.09). The W values of the T2DM subjects with G alleles were significantly higher than those of the T2DM subjects without G alleles after adjustment of age, sex, and BMI (all P < 0.05). Stepwise regression analysis showed that in addition to sex and BMI, rs4640525 was also an associated factor of waist circumference (all P < 0.05).
Conclusion: SNPs (rs3806622 and rs4640525) in APPL1 gene are correlated with body fat distribution in T2DM.