Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
The G (Val184) allele of rs707555 (Leu184Val) in diabetic group was associated with type 2 diabetes (P=0.015; odds ratio 1.42 [95% CI 1.08-1.88]), and was much stronger in subgroup with the BMI<23kg/m(2) (P=0.008). rs2070755, located in intron 4, was also associated with type 2 diabetes (P=0.037; odds ratio 1.29 [95% CI 1.03-1.64]), especially in subgroup with the BMI<23 kg/m(2) (P=0.018).
The gene-gene interaction analysis showed that, compared with pregnant women with other genotype combinations, women with <i>SLC2A4</i> rs5435 (CC/CT), <i>RBP4</i> rs7091052 (CC), <i>PCK1</i> rs1042531 (TT/TG) and rs2236745 (TT), and <i>PIK3R1</i> rs34309 (AA) had lower GDM risk.
The gene-gene interaction analysis showed that, compared with pregnant women with other genotype combinations, women with <i>SLC2A4</i> rs5435 (CC/CT), <i>RBP4</i> rs7091052 (CC), <i>PCK1</i> rs1042531 (TT/TG) and rs2236745 (TT), and <i>PIK3R1</i> rs34309 (AA) had lower GDM risk.
A SNP in the zinc finger protein 224 gene (ZNF224, rs3746319) was associated with both global AD neuropathology (p = 0.009) and global cognition (p = 0.002); whereas, a SNP at the phosphoenolpyruvate carboxykinase locus (PCK1, rs8192708) was selectively associated with global cognition (p = 3.57 x 10(-4)).
The G (Val184) allele of rs707555 (Leu184Val) in diabetic group was associated with type 2 diabetes (P=0.015; odds ratio 1.42 [95% CI 1.08-1.88]), and was much stronger in subgroup with the BMI<23kg/m(2) (P=0.008). rs2070755, located in intron 4, was also associated with type 2 diabetes (P=0.037; odds ratio 1.29 [95% CI 1.03-1.64]), especially in subgroup with the BMI<23 kg/m(2) (P=0.018).