title: Relationship of 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase gene polymorphisms with metabolic syndrome and type 2 diabetes.
abstract: 11β-Hydroxysteroid dehydrogenase type 1 (HSD11B1), which converts inactive glucocorticoid to active glucocorticoid, plays a critical role in the pathogenesis of visceral obesity, metabolic syndrome, and diabetes.  Hexose-6-phosphate dehydrogenase (H6PD) supplies a crucial cofactor, reduced nicotinamide adenine dinucleotide phosphate (NADPH), which allows HSD11B1 to maintain reductase activity.  The association of common SNPs in HSD11B1 [IVS3-29G/T (rs12086634), IVS4-11120A/G (rs1000283)] and H6PD [R453Q (rs6688832), P554L (rs17368528)], either separately or combined, with type 2 diabetes and metabolic syndrome was examined in 427 Korean subjects with type 2 diabetes and in 358 nondiabetic Korean subjects.  HSD11B1 polymorphisms (rs12086634 and rs1000283) were associated with metabolic syndrome among type 2 diabetic subjects and an H6PD polymorphism (rs17368528) was a risk factor for metabolic syndrome in nondiabetic subjects.  However, no significant association of these SNPs with type 2 diabetes and metabolic syndrome was found after considering the multiple comparisons in the total study population.  In conclusion, HSD11B1 and H6PD polymorphisms may not be associated with type 2 diabetes and metabolic syndrome.  Further investigation of the role of these gene polymorphisms on the pathogenesis of metabolic syndrome is required.
authors.affiliation: Department of Internal medicine, Dongguk University School of Medicine, Gyeongju, South Korea.
authors.forename: Seong-Su
authors.initials: SS
authors.lastname: Moon
authors.forename: Young-Sil
authors.initials: YS
authors.lastname: Lee
authors.forename: Jung-Guk
authors.initials: JG
authors.lastname: Kim
authors.forename: Su-Won
authors.initials: SW
authors.lastname: Kim
authors.forename: Ji-Yun
authors.initials: JY
authors.lastname: Jeong
authors.forename: Eon-Ju
authors.initials: EJ
authors.lastname: Jeon
authors.forename: Hyun-Ae
authors.initials: HA
authors.lastname: Seo
authors.forename: Soo Heon
authors.initials: SH
authors.lastname: Kwak
authors.forename: Kyong Soo
authors.initials: KS
authors.lastname: Park
authors.forename: In-Kyu
authors.initials: IK
authors.lastname: Lee
mesh_terms: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1 / Q000235:genetics / Q000378:metabolism; D000368:Aged; D001786:Blood Glucose / Q000378:metabolism; D001806:Blood Urea Nitrogen; D002237:Carbohydrate Dehydrogenases / Q000235:genetics* / Q000378:metabolism; D016009:Chi-Square Distribution; D002784:Cholesterol / Q000097:blood; D004247:DNA / Q000737:chemistry / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005838:Genotype; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood
chemical_list: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1; D001786:Blood Glucose; D002237:Carbohydrate Dehydrogenases; D002784:Cholesterol; D004247:DNA; D006442:Glycated Hemoglobin; D014280:Triglycerides; C020552:galactose-6-phosphate dehydrogenase; C468386:HSD11B1 protein, human