PMID- 11980626
OWN - NLM
STAT- MEDLINE
DCOM- 20020621
LR  - 20190906
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 146
IP  - 5
DP  - 2002 May
TI  - Homozygous combination of calpain 10 gene haplotypes is associated with type 2 
      diabetes mellitus in a Polish population.
PG  - 695-9
AB  - OBJECTIVE: The polymorphisms of two genes have recently been associated with 
      complex forms of type 2 diabetes mellitus (T2DM): calpain 10 and peroxisome 
      proliferator-activated receptor-gamma (PPARgamma). Calpain 10 is a member of a 
      large family of intracellular proteases. It was shown in Mexican-Americans and 
      other populations that variants of three single nucleotide polymorphisms (SNPs), 
      -43, -19, and -63, of this ubiquitously expressed protein influence 
      susceptibility to T2DM. However, substantial differences were shown between 
      ethnic groups in at risk alleles and haplotypes as well as in their attributable 
      risk. Thus, it is important to determine the role of calpain 10 in various 
      populations. AIM: To examine the role of calpain 10 SNPs -43, -19, and -63 in 
      genetic susceptibility to T2DM in a Polish population. METHODS: Overall, 377 
      individuals were examined: 229 T2DM patients and 148 control individuals. The 
      groups were genotyped for calpain 10 SNP-43, SNP-19, and SNP-63. SNP-19 was 
      examined by electrophoresis of the PCR product on agarose gel by size, while the 
      restriction fragment length polymorphism (RFLP) method was used for the two other 
      markers. Differences in allele, genotype, haplotype, and haplotype combination 
      distribution between the groups were examined by chi(2) test. RESULTS: 
      Distributions of alleles, genotypes, and haplotypes at three loci defined by 
      examined SNPs were not significantly different between the groups. However, the 
      homozygote combination of 121 haplotype was more prevalent in the T2DM group than 
      in the controls (17.9% vs 10.1%, P=0.039). No difference was observed in the 
      112/121 haplotype distribution. This heterozygous haplotype combination was 
      associated with increased risk of T2DM in several populations. CONCLUSION: The 
      results of our study suggest the association of calpain 10 121/121 haplotype 
      combination created by SNPs -43, -19, and -63 with T2DM in a Polish population. 
      However, we were not able to confirm the previously described role of the 
      heterozygous 112/121 haplotype combination in susceptibility to T2DM.
FAU - Malecki, Maciej T
AU  - Malecki MT
AD  - Department of Metabolic Diseases, Medical College, Jagiellonian University, 15 
      Kopernika Street, 31-501 Krakow, Poland. mmalecki@cm-uj.krakow.pl
FAU - Moczulski, Dariusz K
AU  - Moczulski DK
FAU - Klupa, Tomasz
AU  - Klupa T
FAU - Wanic, Krzysztof
AU  - Wanic K
FAU - Cyganek, Katarzyna
AU  - Cyganek K
FAU - Frey, Jakub
AU  - Frey J
FAU - Sieradzki, Jacek
AU  - Sieradzki J
LA  - eng
GR  - 1 R03 TW01315-01/TW/FIC NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - EC 3.4.22.- (Calpain)
RN  - EC 3.4.22.- (calpain 10)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Calpain/*genetics
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - *Haplotypes
MH  - *Homozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Poland
MH  - Polymorphism, Genetic
MH  - Reference Values
EDAT- 2002/05/01 10:00
MHDA- 2002/06/22 10:01
CRDT- 2002/05/01 10:00
PHST- 2002/05/01 10:00 [pubmed]
PHST- 2002/06/22 10:01 [medline]
PHST- 2002/05/01 10:00 [entrez]
AID - 146695 [pii]
AID - 10.1530/eje.0.1460695 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2002 May;146(5):695-9. doi: 10.1530/eje.0.1460695.