Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome.
Variation within the calpain-10 gene (CAPN10) has been proposed to account for linkage to type 2 diabetes on chromosome 2q in Mexican-Americans, and associations with diabetes have been reported in several other populations. Given the epidemiological, physiological, and genetic overlap between type...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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2002
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| _version_ | 1826294424633606144 |
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| author | Haddad, L Evans, J Gharani, N Robertson, C Rush, K Wiltshire, S Frayling, T Wilkin, T Demaine, A Millward, A Hattersley, A Conway, G Cox, N Bell, G Franks, S McCarthy, M |
| author_facet | Haddad, L Evans, J Gharani, N Robertson, C Rush, K Wiltshire, S Frayling, T Wilkin, T Demaine, A Millward, A Hattersley, A Conway, G Cox, N Bell, G Franks, S McCarthy, M |
| author_sort | Haddad, L |
| collection | OXFORD |
| description | Variation within the calpain-10 gene (CAPN10) has been proposed to account for linkage to type 2 diabetes on chromosome 2q in Mexican-Americans, and associations with diabetes have been reported in several other populations. Given the epidemiological, physiological, and genetic overlap between type 2 diabetes and polycystic ovary syndrome (PCOS), CAPN10 represents a strong candidate gene for a role in PCOS susceptibility. Using both family based and case-control association resources (146 parent-offspring trios; 185 additional PCOS cases; 525 control subjects, all of European ancestry), we sought association between CAPN10 variation and PCOS, focusing on four single nucleotide polymorphism (SNP) variants (SNP-44, SNP-43; SNP-19; SNP-63). On single-locus transmission disequilibrium analysis in the 146 trios, there was nominal evidence (P = 0.03) of excess transmission of the more common allele at SNP-63. This association was not, however, replicated in the case-control analysis. No other significant associations were observed at the single-locus or haplotype level in either the transmission-disequilibrium or case-control analyses. The relative risk for the high-risk diabetes susceptibility 112/121 genotype (SNPs 43-19-63) was 0.84 (95% confidence intervals, 0.40-1.71). 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. |
| first_indexed | 2024-03-07T03:45:25Z |
| format | Journal article |
| id | oxford-uuid:bf4d98f9-45a4-4a72-82a2-a51aa38b9a22 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:45:25Z |
| publishDate | 2002 |
| record_format | dspace |
| spelling | oxford-uuid:bf4d98f9-45a4-4a72-82a2-a51aa38b9a222022-03-27T05:46:26ZVariation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:bf4d98f9-45a4-4a72-82a2-a51aa38b9a22EnglishSymplectic Elements at Oxford2002Haddad, LEvans, JGharani, NRobertson, CRush, KWiltshire, SFrayling, TWilkin, TDemaine, AMillward, AHattersley, AConway, GCox, NBell, GFranks, SMcCarthy, MVariation within the calpain-10 gene (CAPN10) has been proposed to account for linkage to type 2 diabetes on chromosome 2q in Mexican-Americans, and associations with diabetes have been reported in several other populations. Given the epidemiological, physiological, and genetic overlap between type 2 diabetes and polycystic ovary syndrome (PCOS), CAPN10 represents a strong candidate gene for a role in PCOS susceptibility. Using both family based and case-control association resources (146 parent-offspring trios; 185 additional PCOS cases; 525 control subjects, all of European ancestry), we sought association between CAPN10 variation and PCOS, focusing on four single nucleotide polymorphism (SNP) variants (SNP-44, SNP-43; SNP-19; SNP-63). On single-locus transmission disequilibrium analysis in the 146 trios, there was nominal evidence (P = 0.03) of excess transmission of the more common allele at SNP-63. This association was not, however, replicated in the case-control analysis. No other significant associations were observed at the single-locus or haplotype level in either the transmission-disequilibrium or case-control analyses. The relative risk for the high-risk diabetes susceptibility 112/121 genotype (SNPs 43-19-63) was 0.84 (95% confidence intervals, 0.40-1.71). 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. |
| spellingShingle | Haddad, L Evans, J Gharani, N Robertson, C Rush, K Wiltshire, S Frayling, T Wilkin, T Demaine, A Millward, A Hattersley, A Conway, G Cox, N Bell, G Franks, S McCarthy, M Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. |
| title | Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. |
| title_full | Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. |
| title_fullStr | Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. |
| title_full_unstemmed | Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. |
| title_short | Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. |
| title_sort | variation within the type 2 diabetes susceptibility gene calpain 10 and polycystic ovary syndrome |
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