title: Variants within the calpain-10 gene and relationships with type 2 diabetes (T2DM) and T2DM-related traits among Tunisian Arabs.
abstract: BACKGROUND
  Common variations in the calpain 10 (CAPN10) gene variants UCSNP-43, UCSNP-19 and UCSNP-63, and the 112/121 diplotype, are associated with an increased risk of type 2 diabetes (T2DM) and T2DM-related traits.
  
  
  METHODS
  The association of UCSNP-43, -19 and -63 CAPN10 SNPs with T2DM was assessed in 917 Tunisian T2DM patients and 748 ethnically matched non-diabetic controls. CAPN10 genotyping was done by PCR-RFLP.
  
  
  RESULTS
  Significant differences in UCSNP-19 MAF, but not UCSNP-43 or -63, and genotype distribution were seen between patients and controls. Heterogeneity in UCSNP-19, but not UCSNP-43 and -63, genotype distribution was noted according to geographical origin. Obesity was associated with UCSNP-19, while raised fasting glucose was associated with UCSNP-63, and increased HDL was associated with UCSNP-43. Enrichment of homozygous UCSNP-19 2/2 was seen in overweight and obese compared with lean patients; logistic-regression analyses demonstrated a positive association of the 2/2 genotype with overweight [P=0.003; OR (95% CI)=2.07 (1.28-3.33)] and obese [P=0.021; OR (95% CI)=1.83 (1.10-3.07)] patients. Of the six CAPN10 haplotypes identified, significant enrichment of only haplotype 111 was seen in T2DM patients [Pc=0.034; OR (95% CI)=1.22 (1.06-1.41)], while the frequency of all identified CAPN10 diplotypes, including the high-risk 112/121, was comparable between patients and controls.
  
  
  CONCLUSIONS
  While CAPN10 UCSNP-19 SNP and haplotype 111 contribute to the risk of T2DM in Tunisian subjects, no significant association between CAPN10 diplotypes and T2DM was demonstrated.
authors.affiliation: Research Unit of Biology and Genetics of Hematological and Auto-immune diseases, Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: I
authors.initials: I
authors.lastname: Ezzidi
authors.forename: N
authors.initials: N
authors.lastname: Mtiraoui
authors.forename: R
authors.initials: R
authors.lastname: Nemr
authors.forename: M
authors.initials: M
authors.lastname: Kacem
authors.forename: G M
authors.initials: GM
authors.lastname: Al-Khateeb
authors.forename: T
authors.initials: T
authors.lastname: Mahjoub
authors.forename: W Y
authors.initials: WY
authors.lastname: Almawi
mesh_terms: D000368:Aged; D018912:Arabs / Q000235:genetics; D001786:Blood Glucose / Q000032:analysis; D015992:Body Mass Index; D002154:Calpain / Q000235:genetics*; D008076:Cholesterol, HDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D005215:Fasting; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics; D050177:Overweight / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014416:Tunisia
chemical_list: D001786:Blood Glucose; D008076:Cholesterol, HDL; D002154:Calpain; C415197:calpain 10