Laura Del Bosque-Plata

Publications of Laura Del Bosque-Plata

• Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10.

  Authors: M Geoffrey Hayes, Laura Del Bosque-Plata, Takafumi Tsuchiya, Craig L Hanis, Graeme I Bell, Nancy J Cox

  Diabetes. 01/2006; 54(12):3573-6.

  We investigated the patterns and extent of linkage disequilibrium (LD) in the vicinity of the type 2 diabetes gene calapin-10 (CAPN10) in Mexican Americans, European Americans, African Americans, andWe investigated the patterns and extent of linkage disequilibrium (LD) in the vicinity of the type 2 diabetes gene calapin-10 (CAPN10) in Mexican Americans, European Americans, African Americans, and Chinese Americans. We found that CAPN10 occurs within a single block of high LD and that LD decays rapidly outside of the gene. This reduces the likelihood that associations between CAPN10 polymorphisms and type 2 diabetes could be attributed to variation at some distance from CAPN10. We also consistently observed that cases have more extensive LD than control subjects and that cases from families with evidence for linkage have more extensive LD than cases from families without evidence for linkage. These observations further suggest that there are one or more relatively common alleles increasing risk of type 2 diabetes in this local region.

• Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population.

  Authors: Naoko Iwasaki, Yukio Horikawa, Takafumi Tsuchiya, Yutaka Kitamura, Takahiro Nakamura, Yukio Tanizawa, Yoshitomo Oka, Kazuo Hara, Takashi Kadowaki, Takuya Awata [......] Naohisa Oda, Li Yu, Norihiro Yamada, Makiko Ogata, Naoyuki Kamatani, Yasuhiko Iwamoto, Laura Del Bosque-Plata, M Geoffrey Hayes, Nancy J Cox, Graeme I Bell

  Journal of human genetics. 01/2005; 50(2):92-8.

  Variation in the gene encoding the cysteine protease calpain-10 has been linked and associated with risk of type 2 diabetes. We have examined the effect of three polymorphisms in the calpain-10 geneVariation in the gene encoding the cysteine protease calpain-10 has been linked and associated with risk of type 2 diabetes. We have examined the effect of three polymorphisms in the calpain-10 gene (SNP-43, Indel-19, and SNP-63) on the development of type 2 diabetes in the Japanese population in a pooled analysis of 927 patients and 929 controls. We observed that SNP-43, Indel-19, and SNP-63 either individually or as a haplotype were not associated with altered risk of type 2 diabetes with the exception of the rare 111/221 haplogenotype (odds ratio (OR) =3.53, P=0.02). However, stratification based on the median age-at-diagnosis in the pooled study population (<50 and > or =50 years) revealed that allele 2 of Indel-19 and the 121 haplotype were associated with reduced risk in patients with later age-at-diagnosis (age-at-diagnosis > or =50 years OR=0.82 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.

• Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population.

  Authors: Laura Del Bosque-Plata, Carlos A Aguilar-Salinas, María Teresa Tusié-Luna, Salvador Ramírez-Jiménez, Maribel Rodríguez-Torres, Moisés Aurón-Gómez, Erika Ramírez, María Luisa Velasco-Pérez, Alfredo Ramírez-Silva, Francisco Gómez-Pérez, Craig L Hanis, Takafumi Tsuchiya, Issei Yoshiuchi, Nancy J Cox, Graeme I Bell

  Molecular genetics and metabolism. 03/2004; 81(2):122-6.

  Variation in the calpain-10 gene (CAPN10) has been associated with risk of type 2 diabetes in the Mexican American population of Starr County, Texas. We typed five polymorphisms in the calpain-10Variation in the calpain-10 gene (CAPN10) has been associated with risk of type 2 diabetes in the Mexican American population of Starr County, Texas. We typed five polymorphisms in the calpain-10 gene (SNP-43, -43, -63, and -110 and Indel-19) to test for association with type 2 diabetes in 248 individuals representative of the mestizo population of Mexico City and Orizaba, Mexico including 134 patients with type 2 diabetes and 114 subjects with normal fasting blood glucose levels. We found a significant difference in SNP-44 allele and genotype frequencies between type 2 diabetic and non-diabetic subjects. The rare allele at SNP-44 was associated with increased risk of type 2 diabetes (odds ratio (OR)=2.72, 95% confidence interval (CI)=1.16-6.35, P=0.017). SNP-110, which is in perfect linkage disequilibrium with SNP-44, was also associated with type 2 diabetes. The SNP-43, Indel-19, and SNP-63 haplogenotype 112/121 associated with significantly increased risk (OR=2.16, 95% CI=1.31-3.57) of type 2 diabetes in Mexican Americans was not associated with significantly increased in risk in Mexicans (OR=1.15, 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).

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• Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.

  Authors: Michael N Weedon, Peter E H Schwarz, Yukio Horikawa, Naoko Iwasaki, Thomas Illig, Rolf Holle, Wolfgang Rathmann, Thomas Selisko, Jan Schulze, Katherine R Owen, Julie Evans, Laura Del Bosque-Plata, Graham Hitman, Mark Walker, Jonathan C Levy, Mike Sampson, Graeme I Bell, Mark I McCarthy, Andrew T Hattersley, Timothy M Frayling

  American journal of human genetics. 12/2003; 73(5):1208-12.

• Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population

  Authors: Laura del Bosque-Plata, Carlos A Aguilar-Salinas, Marı́a Teresa Tusié-Luna, Salvador Ramı́rez-Jiménez, Maribel Rodrı́guez-Torres, Moisés Aurón-Gómez, Erika Ramı́rez, Marı́a Luisa Velasco-Pérez, Alfredo Ramı́rez-Silva, Francisco Gómez-Pérez, Craig L Hanis, Takafumi Tsuchiya, Issei Yoshiuchi, Nancy J Cox, Graeme I Bell

  Molecular Genetics and Metabolism.

  Variation in the calpain-10 gene (CAPN10) has been associated with risk of type 2 diabetes in the Mexican American population of Starr County, Texas. We typed five polymorphisms in the calpain-10Variation in the calpain-10 gene (CAPN10) has been associated with risk of type 2 diabetes in the Mexican American population of Starr County, Texas. We typed five polymorphisms in the calpain-10 gene (SNP-43, -43, -63, and -110 and Indel-19) to test for association with type 2 diabetes in 248 individuals representative of the mestizo population of Mexico City and Orizaba, Mexico including 134 patients with type 2 diabetes and 114 subjects with normal fasting blood glucose levels. We found a significant difference in SNP-44 allele and genotype frequencies between type 2 diabetic and non-diabetic subjects. The rare allele at SNP-44 was associated with increased risk of type 2 diabetes (odds ratio (OR)=2.72, 95% confidence interval (CI)=1.16–6.35, P=0.017). SNP-110, which is in perfect linkage disequilibrium with SNP-44, was also associated with type 2 diabetes. The SNP-43, Indel-19, and SNP-63 haplogenotype 112/121 associated with significantly increased risk (OR=2.16, 95% CI=1.31–3.57) of type 2 diabetes in Mexican Americans was not associated with significantly increased in risk in Mexicans (OR=1.15, 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).

• Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses

  Authors: Takafumi Tsuchiya, Peter E.H. Schwarz, Laura del Bosque-Plata, M. Geoffrey Hayes, Christian Dina, Philippe Froguel, G. Wayne Towers, Sabine Fischer, Theodora Temelkova-Kurktschiev, Hannes Rietzsch [......] Marju Orho-Melander, Leif Groop, Maciej T. Malecki, Torben Hansen, Oluf Pedersen, Tasha E. Fingerlin, Michael Boehnke, Craig L. Hanis, Nancy J. Cox, Graeme I. Bell

  Molecular Genetics and Metabolism.

  We conducted pooled and meta-analyses of the association of the calpain-10 gene (CAPN10) polymorphisms SNP-43, Indel-19 and SNP-63 individually and as haplotypes with type 2 diabetes (T2D) in 3237We conducted pooled and meta-analyses of the association of the calpain-10 gene (CAPN10) polymorphisms SNP-43, Indel-19 and SNP-63 individually and as haplotypes with type 2 diabetes (T2D) in 3237 patients and 2935 controls of European ancestry. In the pooled analyses, the common SNP-43*G allele was associated with modest but statistically significant increased risk of T2D (odds ratio (OR) = 1.11 (95% confidence interval (CI), 1.02–1.20), P = 0.01). Two haplotype combinations were associated with increased risk of T2D (1-2-1/1-2-1, OR = 1.20 (1.03–1.41), P = 0.02; and 1-1-2/1-2-1, OR = 1.26 (1.01–1.59), P = 0.04) and one with decreased risk (1-1-1/2-2-1, OR = 0.86 (0.75–0.99), P = 0.03). The meta-analysis also showed a significant effect of the 1-2-1/1-2-1 haplogenotype on risk (OR = 1.25 (1.05–1.50), P = 0.01). However, there was evidence for heterogeneity with respect to this effect (P = 0.06). The heterogeneity appeared to be due to data sets in which the cases were selected from samples used in linkage studies of T2D. Using only the population-based case-control samples removed the heterogeneity (P = 0.89) and strengthened the evidence for association with T2D in both the pooled (SNP-43*G, OR = 1.19 (1.07–1.32), P = 0.001; 1-2-1/1-2-1 haplogenotype, OR = 1.46 (1.19–1.78), P = 0.0003; 1-1-2/1-2-1 haplogenotype, OR = 1.52 (1.12–2.06), P = 0.007; and 1-1-1/2-2-1 haplogenotype, OR = 0.83 (0.70–0.99), P = 0.03) and the meta-analysis (SNP-43*G, OR = 1.18 (1.05–1.32), P = 0.005; 1-2-1/1-2-1 haplogenotype, OR = 1.68 (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.

• Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses.

  Authors: Takafumi Tsuchiya, Peter E H Schwarz, Laura Del Bosque-Plata, M Geoffrey Hayes, Christian Dina, Philippe Froguel, G Wayne Towers, Sabine Fischer, Theodora Temelkova-Kurktschiev, Hannes Rietzsch [......] Marju Orho-Melander, Leif Groop, Maciej T Malecki, Torben Hansen, Oluf Pedersen, Tasha E Fingerlin, Michael Boehnke, Craig L Hanis, Nancy J Cox, Graeme I Bell

  Molecular genetics and metabolism. 89(1-2):174-84.

  We conducted pooled and meta-analyses of the association of the calpain-10 gene (CAPN10) polymorphisms SNP-43, Indel-19 and SNP-63 individually and as haplotypes with type 2 diabetes (T2D) in 3237We conducted pooled and meta-analyses of the association of the calpain-10 gene (CAPN10) polymorphisms SNP-43, Indel-19 and SNP-63 individually and as haplotypes with type 2 diabetes (T2D) in 3237 patients and 2935 controls of European ancestry. In the pooled analyses, the common SNP-43*G allele was associated with modest but statistically significant increased risk of T2D (odds ratio (OR)=1.11 (95% confidence interval (CI), 1.02-1.20), P=0.01). Two haplotype combinations were associated with increased risk of T2D (1-2-1/1-2-1, OR=1.20 (1.03-1.41), P=0.02; and 1-1-2/1-2-1, OR=1.26 (1.01-1.59), P=0.04) and one with decreased risk (1-1-1/2-2-1, OR=0.86 (0.75-0.99), P=0.03). The meta-analysis also showed a significant effect of the 1-2-1/1-2-1 haplogenotype on risk (OR=1.25 (1.05-1.50), P=0.01). However, there was evidence for heterogeneity with respect to this effect (P=0.06). The heterogeneity appeared to be due to data sets in which the cases were selected from samples used in linkage studies of T2D. Using only the population-based case-control samples removed the heterogeneity (P=0.89) and strengthened the evidence for association with T2D in both the pooled (SNP-43*G, OR=1.19 (1.07-1.32), P=0.001; 1-2-1/1-2-1 haplogenotype, OR=1.46 (1.19-1.78), P=0.0003; 1-1-2/1-2-1 haplogenotype, OR=1.52 (1.12-2.06), P=0.007; and 1-1-1/2-2-1 haplogenotype, OR=0.83 (0.70-0.99), P=0.03) and the meta-analysis (SNP-43*G, OR=1.18 (1.05-1.32), P=0.005; 1-2-1/1-2-1 haplogenotype, OR=1.68 (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.