calpain 10

Summary

Gene Symbol: calpain 10
Description: calpain 10
Alias: CANP10, NIDDM1, calpain-10, calcium-activated neutral proteinase 10, calpain-like protease CAPN10
Species: human
Products:     calpain 10

Top Publications

  1. Gonzalez A, Abril E, Roca A, Aragón M, Figueroa M, Velarde P, et al. Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients. J Clin Endocrinol Metab. 2003;88:5529-36 pubmed
    ..Moreover, we have identified novel candidate risk alleles and genotypes, within CAPN10 gene, that could be associated with important phenotypic and prognosis differences observed in PCOS patients. ..
  2. Vollmert C, Hahn S, Lamina C, Huth C, Kolz M, Schöpfer Wendels A, et al. Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. Am J Physiol Endocrinol Metab. 2007;292:E836-44 pubmed
    ..557, P=0.0011). By investigating a broad panel of CAPN10 variants, our results pointed to an allele dose-dependent association of UCSNP-56 and ins/del-19 with PCOS. ..
  3. Gonzalez A, Abril E, Roca A, Aragón M, Figueroa M, Velarde P, et al. Comment: CAPN10 alleles are associated with polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87:3971-6 pubmed
    ..Our data indicate that CAPN10 UCSNP-44 allele is associated with PCOS in the Spanish population (P = 0.01). These results support a role of Calpain 10 gene in PCOS susceptibility in humans.
  4. Fullerton S, Bartoszewicz A, Ybazeta G, Horikawa Y, Bell G, Kidd K, et al. Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet. 2002;70:1096-106 pubmed
    ..These results suggest a history of positive natural selection at the locus, resulting in significant geographic differences in polymorphism frequencies. The relationship of these differences to disease risk is discussed. ..
  5. Baier L, Permana P, Yang X, Pratley R, Hanson R, Shen G, et al. A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J Clin Invest. 2000;106:R69-73 pubmed
    Previous linkage studies in Mexican-Americans localized a major susceptibility locus for type 2 diabetes, NIDDM1, to chromosome 2q...
  6. Oda N, Cox N, Li X, Orho Melander M, Hara M, Hinokio Y, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet. 2000;26:163-75 pubmed
    ..screen for type 2 diabetes genes carried out in Mexican Americans localized a susceptibility gene, designated NIDDM1, to chromosome 2...
  7. Carlsson E, Fredriksson J, Groop L, Ridderstrale M. Variation in the calpain-10 gene is associated with elevated triglyceride levels and reduced adipose tissue messenger ribonucleic acid expression in obese Swedish subjects. J Clin Endocrinol Metab. 2004;89:3601-5 pubmed
  8. Shima Y, Nakanishi K, Odawara M, Kobayashi T, Ohta H. Association of the SNP-19 genotype 22 in the calpain-10 gene with elevated body mass index and hemoglobin A1c levels in Japanese. Clin Chim Acta. 2003;336:89-96 pubmed
    ..016 and p=0.008) than those with all other haplogenotypes. These results indicate the contribution of SNP-19 in CAPN10 to mild obesity and glucose intolerance in Japanese. ..
  9. Horikawa Y, Oda N, Yu L, Imamura S, Fujiwara K, Makino M, et al. Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese. J Clin Endocrinol Metab. 2003;88:244-7 pubmed

More Information

Publications78

  1. Orho Melander M, Klannemark M, Svensson M, Ridderstrale M, Lindgren C, Groop L. Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels. Diabetes. 2002;51:2658-64 pubmed
  2. Escobar Morreale H, Peral B, Villuendas G, Calvo R, Sancho J, San Millan J. Common single nucleotide polymorphisms in intron 3 of the calpain-10 gene influence hirsutism. Fertil Steril. 2002;77:581-7 pubmed
    ..The C allele at the UCSNP45 locus in CAPN10 is associated with idiopathic hirsutism, and UCSNP43 influences the hirsutism score. ..
  3. Adak S, Sengupta S, Chowdhury S, Bhattacharyya M. Co-existence of risk and protective haplotypes of Calpain 10 gene to type 2 diabetes in the eastern Indian population. Diab Vasc Dis Res. 2010;7:63-8 pubmed publisher
    ..In our population a novel 111/112-haplotype combination created by the CAPN10 UCSNP-43, -19 and -63 was associated with risk of T2DM. Haplotypes 112 and 121 with opposite genetic influences also co-exist in our population. ..
  4. Kang E, Kim H, Nam M, Nam C, Ahn C, Cha B, et al. A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes. J Hum Genet. 2006;51:629-33 pubmed
    ..001). The high-risk haplotype (112/121) in Mexican-Americans was not significant in our study population. In conclusion, we found that a novel 111/121 diplotype in Calpain-10 gene is associated with T2DM in the Korean population. ..
  5. Cox N, Hayes M, Roe C, Tsuchiya T, Bell G. Linkage of calpain 10 to type 2 diabetes: the biological rationale. Diabetes. 2004;53 Suppl 1:S19-25 pubmed
    The follow-up studies to the original report of association of variation at calpain 10 (CAPN10) with type 2 diabetes in the Mexican-American population of Starr County, Texas, encompass a broad range of science...
  6. Fingerlin T, Erdos M, Watanabe R, Wiles K, Stringham H, Mohlke K, et al. Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort. Diabetes. 2002;51:1644-8 pubmed
    ..We conclude that variation in these three SNPs in the calpain-10 gene is unlikely to confer susceptibility to type 2 diabetes in this Finnish cohort. ..
  7. Chen S, Lu X, Yan W, Huang J, Gu D. Variations in the calpain-10 gene are associated with the risk of type 2 diabetes and hypertension in northern Han Chinese population. Chin Med J (Engl). 2007;120:2218-23 pubmed
    ..These results suggested that CAPN10 gene variations might play roles in the risk of diabetes and hypertension in northern Han Chinese population. ..
  8. Rasmussen S, Urhammer S, Berglund L, Jensen J, Hansen L, Echwald S, et al. Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians. Diabetes. 2002;51:3561-7 pubmed
  9. Kang E, Nam M, Kim H, Kim H, Myoung S, Rhee Y, et al. Haplotype combination of Calpain-10 gene polymorphism is associated with metabolic syndrome in type 2 diabetes. Diabetes Res Clin Pract. 2006;73:268-75 pubmed
    ..927, P=0.042). The results of this study suggest that a novel 111/121 haplotype combination created by the CAPN10 SNP-43, -19, and -63 increases the susceptibility to the metabolic syndrome in patients with type 2 diabetes. ..
  10. Evans J, Frayling T, Cassell P, Saker P, Hitman G, Walker M, et al. Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet. 2001;69:544-52 pubmed
    ..In conclusion, we were not able to replicate the association of the specific calpain-10 alleles identified by Horikawa et al. but suggest that other alleles at this locus may increase type 2 diabetes risk in the U.K. population. ..
  11. Johnson J, Han Z, Otani K, Ye H, Zhang Y, Wu H, et al. RyR2 and calpain-10 delineate a novel apoptosis pathway in pancreatic islets. J Biol Chem. 2004;279:24794-802 pubmed
    ..Thus RyR2 activity seems to play an essential role in beta-cell survival in vitro by suppressing a death pathway mediated by calpain-10, a type 2 diabetes susceptibility gene with previously unknown function. ..
  12. del Bosque Plata L, Aguilar Salinas C, Tusié Luna M, Ramírez Jiménez S, Rodriguez Torres M, Auron Gomez M, et al. Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population. Mol Genet Metab. 2004;81:122-6 pubmed
    ..15, 95% CI=0.57-2.34). The results suggest that variation in CAPN10 affects risk of type 2 diabetes in the mestizo population of central Mexico (Mexico City and Orizaba) and in Mexican Americans (Starr County, Texas). ..
  13. Song Y, You N, Hsu Y, Sul J, Wang L, Tinker L, et al. Common genetic variation in calpain-10 gene (CAPN10) and diabetes risk in a multi-ethnic cohort of American postmenopausal women. Hum Mol Genet. 2007;16:2960-71 pubmed
    ..37 for haplotypes in block 2). In conclusion, we did not observe any significant associations of the common SNPs or haplotypes across the CAPN10 gene with diabetes risk in our large and ethnically diverse cohort of postmenopausal women. ..
  14. Tsuchiya T, Schwarz P, Bosque Plata L, Geoffrey Hayes M, Dina C, Froguel P, et al. Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab. 2006;89:174-84 pubmed
    ..68 (1.33-2.11), P=0.00001). The pooled and meta-analyses as well as the linkage disequilibrium and haplotype diversity studies suggest a role for genetic variation in CAPN10 affecting risk of T2D in Europeans. ..
  15. Haddad L, Evans J, Gharani N, Robertson C, Rush K, Wiltshire S, et al. Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87:2606-10 pubmed
    ..40-1.71). No associations were seen with intermediate traits of relevance to diabetes and PCOS pathogenesis. We have found no evidence from these analyses that CAPN10 gene variation influences susceptibility to PCOS. ..
  16. Bodhini D, Radha V, Ghosh S, Sanapala K, Majumder P, Rao M, et al. Association of calpain 10 gene polymorphisms with type 2 diabetes mellitus in Southern Indians. Metabolism. 2011;60:681-8 pubmed publisher
    ..In conclusion, our study raises the possibility that the 2111 haplotype of SNPs -44, -43, -19, and -63 may be associated with type 2 diabetes mellitus, although none of these SNPs may be individually associated with diabetes. ..
  17. Weedon M, Schwarz P, Horikawa Y, Iwasaki N, Illig T, Holle R, et al. Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet. 2003;73:1208-12 pubmed
  18. Ehrmann D, Schwarz P, Hara M, Tang X, Horikawa Y, Imperial J, et al. Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87:1669-73 pubmed
    ..In addition to its association with insulin levels in African-Americans, the 112/121-haplotype combination was associated with an approximate 2-fold increase in risk of PCOS in both African-Americans and whites. ..
  19. Iwasaki N, Horikawa Y, Tsuchiya T, Kitamura Y, Nakamura T, Tanizawa Y, et al. Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population. J Hum Genet. 2005;50:92-8 pubmed
    ..82 and 0.80, respectively; P=0.04 and 0.02). Thus, variation in the calpain-10 gene may affect risk of type 2 diabetes in Japanese, especially in older individuals. ..
  20. Wu B, Takahashi J, Fu M, Cheng H, Matsumura S, Taniguchi H. Variants of calpain-10 gene and its association with type 2 diabetes mellitus in a Chinese population. Diabetes Res Clin Pract. 2005;68:155-61 pubmed
    ..2 +/- 0.7, p = 0.011). Our results suggest that haplotype combination 112/221 associated with reduced risk for T2DM and haplotype combination 112/121 might be a risk factor for increased serum cholesterol in Chinese population. ..
  21. Stumvoll M, Fritsche A, Madaus A, Stefan N, Weisser M, Machicao F, et al. Functional significance of the UCSNP-43 polymorphism in the CAPN10 gene for proinsulin processing and insulin secretion in nondiabetic Germans. Diabetes. 2001;50:2161-3 pubmed
    Recently, an association of the G allele in UCSNP-43 of calpain 10 with type 2 diabetes and decreased glucose disposal was reported. Calpain 10 is also expressed in pancreatic islets...
  22. Hong J, Li G, Li C, Hui R, Sun S, Wang J, et al. [Relationship between calpain-10 gene polymorphism, hypertension and plasma glucose]. Zhonghua Nei Ke Za Zhi. 2002;41:370-3 pubmed
    ..It may be a predictor of type 2 diabetes mellitus (T2DM) in the decendents of hypertensives. ..
  23. Cassell P, Jackson A, North B, Evans J, Syndercombe Court D, Phillips C, et al. Haplotype combinations of calpain 10 gene polymorphisms associate with increased risk of impaired glucose tolerance and type 2 diabetes in South Indians. Diabetes. 2002;51:1622-8 pubmed
    Haplotype combination 112/121 and its intrinsic variants (UCSNP43, -19, and -63) identified within the calpain 10 gene are associated with increased risk of type 2 diabetes in Mexican-Americans...
  24. Marshall C, Hitman G, Partridge C, Clark A, Ma H, Shearer T, et al. Evidence that an isoform of calpain-10 is a regulator of exocytosis in pancreatic beta-cells. Mol Endocrinol. 2005;19:213-24 pubmed
    ..Based upon these findings, we postulate that an isoform of calpain-10 is a Ca2+-sensor that functions to trigger exocytosis in pancreatic beta-cells. ..
  25. Brown A, Yeaman S, Walker M. Targeted suppression of calpain-10 expression impairs insulin-stimulated glucose uptake in cultured primary human skeletal muscle cells. Mol Genet Metab. 2007;91:318-24 pubmed
    ..Suppression of calpain-10 expression did not affect insulin-stimulated glycogen synthesis nor insulin-signalling via PKB, suggesting that calpain-10 may exert a direct regulatory effect upon the glucose uptake mechanism. ..
  26. Song Y, Niu T, Manson J, Kwiatkowski D, Liu S. Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies. Am J Hum Genet. 2004;74:208-22 pubmed
    ..Our findings also suggest that both large-scale, well-designed association studies and functional studies are warranted to either reliably confirm or conclusively refute the initial hypothesis regarding the role of CAPN10 in T2D risk. ..
  27. Tsai H, Sun G, Weeks D, Kaushal R, Wolujewicz M, McGarvey S, et al. Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association. Am J Hum Genet. 2001;69:1236-44 pubmed
  28. Lynn S, Evans J, White C, Frayling T, Hattersley A, Turnbull D, et al. Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes. 2002;51:247-50 pubmed
    ..002). We conclude that genetic variation in the CAPN10 gene influences blood glucose levels in nondiabetic British subjects and that this is due, at least in part, to the effects of calpain-10 on the early insulin secretory response. ..
  29. Garant M, Kao W, Brancati F, Coresh J, Rami T, Hanis C, et al. SNP43 of CAPN10 and the risk of type 2 Diabetes in African-Americans: the Atherosclerosis Risk in Communities Study. Diabetes. 2002;51:231-7 pubmed
    ..We conclude from this large prospective study that the G allele of SNP43 of CAPN10 or another allele or gene that is in linkage disequilibrium with it increases susceptibility to type 2 diabetes in African-Americans. ..
  30. Kifagi C, Makni K, Mnif F, Boudawara M, Hamza N, Rekik N, et al. Association of calpain-10 polymorphisms with type 2 diabetes in the Tunisian population. Diabetes Metab. 2008;34:273-8 pubmed publisher
    ..At the NIDDM1 locus (2q37...
  31. Saez M, González Sánchez J, Ramirez Lorca R, Martinez Larrad M, Zabena C, Gonzalez A, et al. The CAPN10 gene is associated with insulin resistance phenotypes in the Spanish population. PLoS ONE. 2008;3:e2953 pubmed publisher
    ..The calpain 10 gene (CAPN10) has been associated with type 2 diabetes (T2DM), a complex metabolic disorder with increased risk ..
  32. Xu Q, Xu S, Yun C, Kwan H. [Single nucleotide polymorphisms and genotype combinations in calpain-10 gene of Korean population]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23:100-2 pubmed
    ..2%). The distribution of SNPs in calpain-10 gene in Korean is similar to that in Chinese and Japanese, but different from that reported in Caucasian, American Mexicans and American Pima Indians. ..
  33. Carlsson E, Poulsen P, Storgaard H, Almgren P, Ling C, Jensen C, et al. Genetic and nongenetic regulation of CAPN10 mRNA expression in skeletal muscle. Diabetes. 2005;54:3015-20 pubmed
    ..Glucose-tolerant but not glucose-intolerant individuals upregulate their CAPN10 mRNA levels in response to prolonged exposure to fat. ..
  34. Pihlajamaki J, Salmenniemi U, Vänttinen M, Ruotsalainen E, Kuusisto J, Vauhkonen I, et al. Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes. Diabetologia. 2006;49:1560-6 pubmed
    ..SNP-43 of CAPN10 may contribute to the risk of diabetes by regulating abdominal obesity in subjects with high risk of type 2 diabetes. ..
  35. Ouederni T, Sanchez Corona J, Skhiri H, Maiz H, Abid H, Benammar Elgaaied A. [Study of association of the SNP19 polymorphism of calpain 10 gene with type 2 diabetes in ethnic sub-groups of the Tunisian population: gene-environment interaction]. Ann Biol Clin (Paris). 2009;67:171-6 pubmed publisher
    ..After adjusting for gender and age, we found an association with a high risk of T2DM in Djerba Island only in Arab sub-group. ..
  36. Elbein S, Chu W, Ren Q, Hemphill C, Schay J, Cox N, et al. Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians. J Clin Endocrinol Metab. 2002;87:650-4 pubmed
    ..We found some evidence for linkage of T2DM to chromosome 2q approximately 20 cM proximal to the NIDDM1/CAPN10 locus...
  37. Haap M, Machicao F, Stefan N, Thamer C, Tschritter O, Schnuck F, et al. Genetic determinants of insulin action in polycystic ovary syndrome. Exp Clin Endocrinol Diabetes. 2005;113:275-81 pubmed
    ..This was not associated with a more insulin resistant phenotype in PCOS, however. Other frequent polymorphisms in genes related to insulin resistance and type 2 diabetes showed no association with PCOS. ..
  38. Ezzidi I, Turki A, Messaoudi S, Chaieb M, Kacem M, Al Khateeb G, et al. Common polymorphisms of calpain-10 and the risk of Type 2 Diabetes in a Tunisian Arab population: a case-control study. BMC Med Genet. 2010;11:75 pubmed publisher
    ..CAPN10 UCSNP-19 variant, and the 111 haplotype contribute to the risk of T2D in Tunisian subjects; no significant associations between CAPN10 diplotypes and T2D were demonstrated for Tunisians. ..
  39. Hayes M, del Bosque Plata L, Tsuchiya T, Hanis C, Bell G, Cox N. Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10. Diabetes. 2005;54:3573-6 pubmed
    ..These observations further suggest that there are one or more relatively common alleles increasing risk of type 2 diabetes in this local region. ..
  40. Tang Y, Fu R, Ling Z, Liu L, Yu G, Li W, et al. MiR-137-3p rescue motoneuron death by targeting calpain-2. Nitric Oxide. 2018;74:74-85 pubmed publisher
    ..These events provide new insight into the mechanism by which upregulation of miR-137-3p can impair MN survival in the BPRA. ..
  41. Zhou Y, Xiong Y, Yang C, Jiang X, Ran J, Jin J, et al. Experimental Verification of CAPN1 and CAST Gene Polymorphisms in Different Generations of Da-Heng Broilers. Biomed Res Int. 2017;2017:7968450 pubmed publisher
    ..Moreover, although SNP6 (G37868A) of CAST had no relevance to carcass traits or tenderness traits in the third generation, it showed significant association with LW and CW in the ninth generation (P < 0.05). ..
  42. Cui J, Xu X, Yin S, Chen F, Li P, Song C. Meta-analysis of the association between four CAPN10 gene variants and gestational diabetes mellitus. Arch Gynecol Obstet. 2016;294:447-53 pubmed publisher
    The purpose of the meta-analysis is to evaluate the association between calpain-10 (CANP10) gene polymorphisms and gestational diabetes mellitus (GDM)...
  43. Tkáč I, Javorský M, Klimčáková L, Židzik J, Gaľa I, Babjaková E, et al. A pharmacogenetic association between a variation in calpain 10 (CAPN10) gene and the response to metformin treatment in patients with type 2 diabetes. Eur J Clin Pharmacol. 2015;71:59-63 pubmed publisher
    ..This observation needs to be replicated in further studies in different populations. ..
  44. Perez Martinez P, Delgado Lista J, Garcia Rios A, Ferguson J, Gulseth H, Williams C, et al. Calpain-10 interacts with plasma saturated fatty acid concentrations to influence insulin resistance in individuals with the metabolic syndrome. Am J Clin Nutr. 2011;93:1136-41 pubmed publisher
    ..The rs2953171 polymorphism at the CAPN10 gene locus may influence insulin sensitivity by interacting with the plasma fatty acid composition in subjects with MetS. This trial was registered at clinicaltrials.gov as NCT00429195. ..
  45. Yang X, Pratley R, Baier L, Horikawa Y, Bell G, Bogardus C, et al. Reduced skeletal muscle calpain-10 transcript level is due to a cumulative decrease in major isoforms. Mol Genet Metab. 2001;73:111-3 pubmed
    ..The expression levels of the major isoforms, calpain-10a and -10f, were positively correlated with the total calpain-10 mRNA levels, indicating a cumulative effect. ..
  46. Demirci H, Yurtcu E, Ergun M, Yazici A, Karasu C, Yetkin I. Calpain 10 SNP-44 gene polymorphism affects susceptibility to type 2 diabetes mellitus and diabetic-related conditions. Genet Test. 2008;12:305-9 pubmed publisher
    The association of the gene encoding calpain 10 with type 2 diabetes mellitus (T2DM) has been reported...
  47. Ridderstrale M, Nilsson E. Type 2 diabetes candidate gene CAPN10: first, but not last. Curr Hypertens Rep. 2008;10:19-24 pubmed
    CAPN10, which encodes the cysteine protease calpain 10, was the first type 2 diabetes mellitus (T2DM) susceptibility gene identified through a genome-wide scan followed by positional cloning...
  48. Wiltgen D, Furtado L, Kohek M, Spritzer P. CAPN10 UCSNP-43, UCSNP-19 and UCSNP-63 polymorphisms and metabolic syndrome in polycystic ovary syndrome. Gynecol Endocrinol. 2007;23:173-8 pubmed
    ..These results provide evidence that CAPN10 gene UCSNP-43 polymorphisms may influence the PCOS metabolic phenotype. This should be further confirmed in large population-based studies. ..
  49. Ezzidi I, Mtiraoui N, Nemr R, Kacem M, Al Khateeb G, Mahjoub T, et al. Variants within the calpain-10 gene and relationships with type 2 diabetes (T2DM) and T2DM-related traits among Tunisian Arabs. Diabetes Metab. 2010;36:357-62 pubmed publisher
    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...
  50. Mendoza Lorenzo P, Salazar A, Cortes Arenas E, Saucedo R, Taja Chayeb L, Flores Dorantes M, et al. The reduction of Calpain-10 expression is associated with risk polymorphisms in obese children. Gene. 2013;516:126-31 pubmed publisher
    ..The presence of polymorphisms and alterations in the expression of the CAPN10 gene at early ages might result in metabolic impairment in adulthood and should be further investigated. ..
  51. Shore A, Evans J, Frayling T, Clark P, Lee B, Horikawa Y, et al. Association of calpain-10 gene with microvascular function. Diabetologia. 2002;45:899-904 pubmed
    Genotype could influence vascular function. In some populations, Calpain 10 gene polymorphisms increase susceptibility to diabetes or insulin resistance. Alterations in microvascular function could contribute to insulin resistance...
  52. Ling C, Groop L, Guerra S, Lupi R. Calpain-10 expression is elevated in pancreatic islets from patients with type 2 diabetes. PLoS ONE. 2009;4:e6558 pubmed publisher
    ..04) in non-diabetic donors. While calpain-10 expression correlates with insulin release in non-diabetic human islets, this correlation is lost in T2D suggesting that a stimulatory effect of calpain-10 could be lost in patients with T2D. ..
  53. Unsal T, Konac E, Yesilkaya E, Yilmaz A, Bideci A, Ilke Onen H, et al. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J Assist Reprod Genet. 2009;26:205-16 pubmed publisher
    ..Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls. ..
  54. Zhang R, Bai J, Yi H, Zhao Y, Lin Y, Zhang T, et al. [Association between calpain-10 gene polymorphism and risk of type 2 diabetes mellitus: a meta analysis]. Zhonghua Liu Xing Bing Xue Za Zhi. 2009;30:850-6 pubmed
    ..653 (1.025 - 2.665). SNP43-G allele, G/G genotype, 111/221 were risk factors to Mongoloid race. And SNP-C allele, 111/111 haplotype combination were risk factors to Caucasoid race, and SNP44-C allele to Hybrid race. ..
  55. Goodarzi M, Taylor K, Guo X, Quiñones M, Cui J, Li Y, et al. Association of the diabetes gene calpain-10 with subclinical atherosclerosis: the Mexican-American Coronary Artery Disease Study. Diabetes. 2005;54:1228-32 pubmed
    ..The fact that the diabetes gene CAPN10 also influences the risk for atherosclerosis shows that inherited factors may underlie the frequent co-occurrence of these two conditions. ..
  56. Yilmaz M, Yurtcu E, Demirci H, Ergun M, Ersoy R, Karakoc A, et al. Calpain 10 gene single-nucleotide 44 polymorphism may have an influence on clinical and metabolic features in patients with polycystic ovary syndrome. J Endocrinol Invest. 2009;32:13-7 pubmed
    This study was designed in order to examine the relationship between Calpain 10 [single-nucleotide polymorphism (SNP) 19,43,44,63] gene polymorphisms and clinical and hormonal characteristics in women with polycystic ovary syndrome (PCOS)...
  57. Oladnabi M, Musante L, Larti F, Hu H, Abedini S, Wienker T, et al. New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Arch Iran Med. 2015;18:179-84 pubmed publisher
    ..Altogether, we proposed CAPN10 as a promising candidate gene for intellectual disability, which should be considered in diagnostic gene panels. ..
  58. Fong P, Fesinmeyer M, White E, Farin F, Srinouanprachanh S, Afsharinejad Z, et al. Association of diabetes susceptibility gene calpain-10 with pancreatic cancer among smokers. J Gastrointest Cancer. 2010;41:203-8 pubmed publisher
    ..These results suggest that variation in CAPN10 may be associated with increased risk of PC among smokers. Thus, studies of genes associated with diabetes risk in PC are warranted in a larger population. ..
  59. Hoffstedt J, Ryden M, Lofgren P, Orho Melander M, Groop L, Arner P. Polymorphism in the Calpain 10 gene influences glucose metabolism in human fat cells. Diabetologia. 2002;45:276-82 pubmed
    A common G to A polymorphism ( UCSNP-43) in the Calpain 10 gene was recently found to be associated with Type II (non-insulin-dependent) diabetes mellitus and variations in post-absorptive and insulin stimulated glucose metabolism in vivo...
  60. Picos Cárdenas V, Sáinz González E, Miliar García A, Romero Zazueta A, Quintero Osuna R, Leal Ugarte E, et al. Calpain-10 gene polymorphisms and risk of type 2 diabetes mellitus in Mexican mestizos. Genet Mol Res. 2015;14:2205-15 pubmed publisher
    ..We found no association between these polymorphisms and diabetes. However, our sample size was small, so the role of calpain-10 risk alleles should be further examined. ..
  61. Huang M, Xiao J, Zhao X, Liu C, Chen Q. Four polymorphisms of the CAPN 10 gene and their relationship to polycystic ovary syndrome susceptibility: a meta-analysis. Clin Endocrinol (Oxf). 2012;76:431-8 pubmed publisher
    ..Additionally, insert allele and recessive model of UCSNP-19 are protective factors, while deletion allele and heterozygous genotype are risk factors for PCOS development. ..
  62. Daimon M, Oizumi T, Saitoh T, Kameda W, Yamaguchi H, Ohnuma H, et al. Calpain 10 gene polymorphisms are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese. Diabetes Res Clin Pract. 2002;56:147-52 pubmed
    ..6 +/- 34.3 vs. 198.5 +/- 29.9, P=0.020). The genotype combination might be a risk factor, not for DM, obesity and hypertension, but for increased serum cholesterol. ..
  63. Frances C, Conde M, Saez M, Diez S, Rey C, Ramírez Armengol J, et al. Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility. J Gastroenterol Hepatol. 2007;22:2298-302 pubmed
    ..006). Taken together, our results indicate a recessive model for the effect of CAPN10 variant UCSNP-44 influencing the risk of CRC and suggest a novel genetic link between T2DM and colon carcinoma. ..
  64. Logie L, Brown A, Yeaman S, Walker M. Calpain inhibition and insulin action in cultured human muscle cells. Mol Genet Metab. 2005;85:54-60 pubmed
    Variation in the calpain 10 gene has been reported to increase susceptibility to type 2 diabetes. Part of this susceptibility appears to be mediated by a decrease in whole body insulin sensitivity...
  65. Paul D, Harmon A, Winston C, Patel Y. Calpain facilitates GLUT4 vesicle translocation during insulin-stimulated glucose uptake in adipocytes. Biochem J. 2003;376:625-32 pubmed
    ..Recent studies have identified a member of the calpain family of proteases, calpain 10, as a putative diabetes-susceptibility gene that may be involved in the development of type 2 diabetes...
  66. Turner M, Cassell P, Hitman G. Calpain-10: from genome search to function. Diabetes Metab Res Rev. 2005;21:505-14 pubmed
  67. Derbel S, Doumaguet C, Hubert D, Mosnier Pudar H, Grabar S, Chelly J, et al. Calpain 10 and development of diabetes mellitus in cystic fibrosis. J Cyst Fibros. 2006;5:47-51 pubmed
    ..4 (p=0.02). All allele and genotype distributions for the other polymorphisms were similar in the three groups. In conclusion, our observations suggest that UCSNP-19 of CAPN10 may be involved in the pathogenesis of diabetes in CF. ..
  68. Chan D, Tsoi M, Liu C, Chan S, Law S, Chan K, et al. Oncogene GAEC1 regulates CAPN10 expression which predicts survival in esophageal squamous cell carcinoma. World J Gastroenterol. 2013;19:2772-80 pubmed publisher
    ..analysis for identifying differentially expressed genes detected the greatest levels of downregulation of calpain 10 (CAPN10) and upregulation of trinucleotide repeat containing 6C (TNRC6C) transcripts when GAEC1 expression was ..
  69. López Orduña E, Garcia Mena J, Garcia Macedo R, Stumvoll M, Cruz M. CAPN10 mRNA splicing and decay is not affected by a SNP associated with susceptibility to type 2 diabetes. Biochem Biophys Res Commun. 2007;358:831-6 pubmed
    ..We propose a defective CAPN10 pre-mRNA processing is responsible for the decreased levels of SNP-43 A-allele transcripts in peripheral white cells of healthy and T2D individuals. ..