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

Related Diseases:

Noninsulin-dependent diabetes mellitus 1
CAPN10

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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

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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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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14.

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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15.

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

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16.

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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17.

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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18.

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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Update: Sept. 26, 2018