PMID- 17227582
OWN - NLM
STAT- MEDLINE
DCOM- 20070202
LR  - 20181113
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 8
DP  - 2007 Jan 16
TI  - Calpain-5 gene variants are associated with diastolic blood pressure and 
      cholesterol levels.
PG  - 1
AB  - BACKGROUND: Genes implicated in common complex disorders such as obesity, type 2 
      diabetes mellitus (T2DM) or cardiovascular diseases are not disease specific, 
      since clinically related disorders also share genetic components. Cysteine 
      protease Calpain 10 (CAPN10) has been associated with T2DM, hypertension, 
      hypercholesterolemia, increased body mass index (BMI) and polycystic ovary 
      syndrome (PCOS), a reproductive disorder of women in which isunlin resistance 
      seems to play a pathogenic role. The calpain 5 gene (CAPN5) encodes a protein 
      homologue of CAPN10. CAPN5 has been previously associated with PCOS by our group. 
      In this new study, we have analysed the association of four CAPN5 gene 
      variants(rs948976A>G, rs4945140G>A, rs2233546C>T and rs2233549G>A) with several 
      cardiovascular risk factors related to metabolic syndrome in general population. 
      METHODS: Anthropometric measurements, blood pressure, insulin, glucose and lipid 
      profiles were determined in 606 individuals randomly chosen from a 
      cross-sectional population-based epidemiological survey in the province of 
      Segovia in Central Spain (Castille), recruited to investigate the prevalence of 
      anthropometric and physiological parameters related to obesity and other 
      components of the metabolic syndrome. Genotypes at the four polymorphic loci in 
      CAPN5 gene were detected by polymerase chain reaction (PCR). RESULTS: Genotype 
      association analysis was significant for BMI (p < or = 0.041), diastolic blood 
      pressure (p = 0.015) and HDL-cholesterol levels (p = 0.025). Different CAPN5 
      haplotypes were also associated with diastolic blood pressure (DBP) (0.0005 < or 
      = p < or = 0.006) and total cholesterol levels (0.001 < or = p < or = 0.029). In 
      addition, the AACA haplotype, over-represented in obese individuals, is also more 
      frequent in individuals with metabolic syndrome defined by ATPIII criteria (p = 
      0.029). CONCLUSION: As its homologue CAPN10, CAPN5 seems to influence traits 
      related to increased risk for cardiovascular diseases. Our results also may 
      suggest CAPN5 as a candidate gene for metabolic syndrome.
FAU - Saez, Maria E
AU  - Saez ME
AD  - Departamento de Genomica Estructural, Neocodex, Sevilla, Spain. 
      mesaez@neocodex.es
FAU - Martinez-Larrad, Maria T
AU  - Martinez-Larrad MT
FAU - Ramirez-Lorca, Reposo
AU  - Ramirez-Lorca R
FAU - Gonzalez-Sanchez, Jose L
AU  - Gonzalez-Sanchez JL
FAU - Zabena, Carina
AU  - Zabena C
FAU - Martinez-Calatrava, Maria J
AU  - Martinez-Calatrava MJ
FAU - Gonzalez, Alejandro
AU  - Gonzalez A
FAU - Moron, Francisco J
AU  - Moron FJ
FAU - Ruiz, Agustin
AU  - Ruiz A
FAU - Serrano-Rios, Manuel
AU  - Serrano-Rios M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070116
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (Cholesterol, HDL)
RN  - 0 (Genetic Markers)
RN  - EC 3.4.22.- (Calpain)
RN  - EC 3.4.22.- (Capn5 protein, human)
SB  - IM
MH  - Blood Pressure/*genetics
MH  - Body Mass Index
MH  - Calpain/*genetics
MH  - Cholesterol, HDL/*blood
MH  - Diastole
MH  - Female
MH  - Gene Frequency
MH  - Genetic Markers
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Hypertension/blood/*genetics/physiopathology
MH  - Male
MH  - Metabolic Syndrome/blood/*genetics/physiopathology
MH  - Middle Aged
MH  - Phenotype
MH  - Polymorphism, Genetic
MH  - Quantitative Trait Loci
PMC - PMC1783645
EDAT- 2007/01/18 09:00
MHDA- 2007/02/03 09:00
PMCR- 2007/01/16
CRDT- 2007/01/18 09:00
PHST- 2006/09/08 00:00 [received]
PHST- 2007/01/16 00:00 [accepted]
PHST- 2007/01/18 09:00 [pubmed]
PHST- 2007/02/03 09:00 [medline]
PHST- 2007/01/18 09:00 [entrez]
PHST- 2007/01/16 00:00 [pmc-release]
AID - 1471-2350-8-1 [pii]
AID - 10.1186/1471-2350-8-1 [doi]
PST - epublish
SO  - BMC Med Genet. 2007 Jan 16;8:1. doi: 10.1186/1471-2350-8-1.