Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Calpain-10

The CAPN10 gene encodes calcium-dependent cysteine proteases. Mutations of the gene are associated with non-insulin-dependent diabetes mellitus 1 (NIDDM1).

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Noninsulin-dependent diabetes mellitus 1
CAPN10

References:

1.

Horikawa Y et al. (2000) Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.

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2.

Hanis CL et al. (1996) A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

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3.

Altshuler D et al. (2000) Guilt by association.

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4.

None (2001) Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene.

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5.

Kang ES et al. (2006) A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes.

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6.

Weiss KM et al. (2000) How many diseases does it take to map a gene with SNPs?

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7.

Evans JC et al. (2001) Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.

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8.

Tsai HJ et al. (2001) Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association.

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9.

Elbein SC et al. (2002) Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians.

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10.

Fullerton SM et al. (2002) Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.

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11.

Ehrmann DA et al. (2002) Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.

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12.

Hoffstedt J et al. (2002) Calpain-10 gene polymorphism is associated with reduced beta(3)-adrenoceptor function in human fat cells.

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13.

Gonzalez A et al. (2002) Comment: CAPN10 alleles are associated with polycystic ovary syndrome.

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14.

Horikawa Y et al. (2003) Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese.

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15.

Weedon MN et al. (2003) Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.

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16.

Gonzalez A et al. (2003) Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients.

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17.

Song Y et al. (2004) Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies.

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18.

Carlsson E et al. (2004) Variation in the calpain-10 gene is associated with elevated triglyceride levels and reduced adipose tissue messenger ribonucleic acid expression in obese Swedish subjects.

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19.

NCBI article

NCBI 11132 [^]
20.

OMIM.ORG article

Omim 605286 [^]
21.

Wikipedia article

Wikipedia EN (CAPN10) [^]
Update: April 29, 2019