title: Association of POL1, MALT1, MC4R, PHLPP and DSEL single nucleotide polymorphisms in chromosome 18q region with type 2 diabetes in Tunisians.
abstract: Previous studies and replication analyses have linked chromosome 18q21.1-23 with type 2 diabetes (T2DM) and its complications, including diabetic nephropathy (DN). Here we investigated the association of POL1-nearby variant rs488846, MALT1-nearby variant rs2874116, MC4R-nearby variant rs1942872, PHLPP rs9958800 and DSEL-nearby variant rs9966483 single nucleotide polymorphisms (SNPs) in the 18q region, previously linked with DN in African-Americans, with T2DM in (North African) Tunisian subjects, followed by their association with DN, which was performed subsequent to the analysis of the association with T2DM. Study subjects comprised 900 T2DM cases and 748 normoglycemic control, and genotyping was carried out by PCR-RFLP analysis. Of the 5 SNPs analyzed, POL1-nearby variant rs488846 [P=0.044], and MC4R-nearby variant rs1942872 [P=0.012] were associated with moderate risk of T2DM. However, there was a lack of consistency in the association of the 5 tested SNPs with DN. As such, it appears that the three chromosome 18q region variants appear to play a role in T2DM pathogenesis, but not with DN in North African Tunisian Arabs.
authors.affiliation: Research Unit of Biology and Genetics of Cancer and Haematological and Autoimmune Diseases, Faculty of Pharmacy of Monastir, Tunisia.
authors.forename: Amira
authors.initials: A
authors.lastname: Turki
authors.forename: Touhami
authors.initials: T
authors.lastname: Mahjoub
authors.forename: Nabil
authors.initials: N
authors.lastname: Mtiraoui
authors.forename: Miled
authors.initials: M
authors.lastname: Abdelhedi
authors.forename: Ameur
authors.initials: A
authors.lastname: Frih
authors.forename: Wassim Y
authors.initials: WY
authors.lastname: Almawi
mesh_terms: D000328:Adult; D000368:Aged; D018912:Arabs; D020169:Caspases / Q000235:genetics; D002887:Chromosomes, Human, Pair 18; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D003928:Diabetic Nephropathies / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D000074884:Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010749:Phosphoprotein Phosphatases / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics*; D014416:Tunisia; D000094769:DNA Polymerase iota
chemical_list: C470072:MC4R protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D044105:Receptor, Melanocortin, Type 4; D004259:DNA-Directed DNA Polymerase; C400601:PHLPP1 protein, human; D010749:Phosphoprotein Phosphatases; D020169:Caspases; C400109:MALT1 protein, human; D000074884:Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein; D000094769:DNA Polymerase iota; C000722070:POLI protein, human
keywords: AER; BMI; Chromosome 18; DN; DWN; Diabetic nephropathy; ESRD; FPG; GWAS; MAF; OGTT; SNP; Single nucleotide polymorphisms; T2DM; Type 2 diabetes; albumin excretion rate; body-mass index; diabetes without nephropathy; diabetic nephropathy; end-stage renal disease; fasting plasma glucose; genome-wide association studies; minor allele frequency; oral glucose tolerance test; single nucleotide polymorphism; type 2 diabetes