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Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity

Lyon, Helen N. ; Florez, Jose C. ; Bersaglieri, Todd ; Saxena, Richa ; Winckler, Wendy ; Almgren, Peter LU ; Lindblad, Ulf LU ; Tuomi, Tiinamaija ; Gaudet, Daniel and Zhu, Xiaofeng , et al. (2006) In Diabetes 55(11). p.3180-3184
Abstract
The common missense single nucleotide polymorphism (SNP) K121Q in the ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1) gene has recently been associated with type 2 diabetes in Italian, U.S., and South-Asian populations. A three-SNP haplotype, including K121Q, has also been associated with obesity and type 2 diabetes in French and Austrian populations. We set out to confirm these findings in several large samples. We genotyped the haplotype K121Q (rs1044498), rs1799774, and rs7754561 in 8,676 individuals of European ancestry with and without type 2 diabetes, in 1,900 obese and 930 lean individuals of European ancestry from the U.S. and Poland, and in 1,101 African-American individuals. Neither the K121Q missense polymorphism... (More)
The common missense single nucleotide polymorphism (SNP) K121Q in the ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1) gene has recently been associated with type 2 diabetes in Italian, U.S., and South-Asian populations. A three-SNP haplotype, including K121Q, has also been associated with obesity and type 2 diabetes in French and Austrian populations. We set out to confirm these findings in several large samples. We genotyped the haplotype K121Q (rs1044498), rs1799774, and rs7754561 in 8,676 individuals of European ancestry with and without type 2 diabetes, in 1,900 obese and 930 lean individuals of European ancestry from the U.S. and Poland, and in 1,101 African-American individuals. Neither the K121Q missense polymorphism nor the putative risk haplotype were significantly associated with type 2 diabetes or BMI. Two SNPs showed suggestive evidence of association in a meta-analysis of our European ancestry samples. These SNPs were rs7754561 with type 2 diabetes 0.85 [95% CI 0.78-0.92], P = 0.00003) and rs1799774 with BMI (homozygotes of the delT-allele, 0.6 [0.42-0.88], P = 0.007). However, these findings are not supported by other studies. We did not observe a reproducible association between these three ENPP1 variants and BMI or type 2 diabetes. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Diabetes
volume
55
issue
11
pages
3180 - 3184
publisher
American Diabetes Association Inc.
external identifiers
  • wos:000241966500032
  • scopus:33845428756
ISSN
1939-327X
DOI
10.2337/db06-0407
language
English
LU publication?
yes
id
8135d979-e779-4aa4-82b8-43be567b4d06 (old id 377162)
date added to LUP
2016-04-01 16:11:39
date last changed
2024-01-11 03:26:40
@article{8135d979-e779-4aa4-82b8-43be567b4d06,
  abstract     = {{The common missense single nucleotide polymorphism (SNP) K121Q in the ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1) gene has recently been associated with type 2 diabetes in Italian, U.S., and South-Asian populations. A three-SNP haplotype, including K121Q, has also been associated with obesity and type 2 diabetes in French and Austrian populations. We set out to confirm these findings in several large samples. We genotyped the haplotype K121Q (rs1044498), rs1799774, and rs7754561 in 8,676 individuals of European ancestry with and without type 2 diabetes, in 1,900 obese and 930 lean individuals of European ancestry from the U.S. and Poland, and in 1,101 African-American individuals. Neither the K121Q missense polymorphism nor the putative risk haplotype were significantly associated with type 2 diabetes or BMI. Two SNPs showed suggestive evidence of association in a meta-analysis of our European ancestry samples. These SNPs were rs7754561 with type 2 diabetes 0.85 [95% CI 0.78-0.92], P = 0.00003) and rs1799774 with BMI (homozygotes of the delT-allele, 0.6 [0.42-0.88], P = 0.007). However, these findings are not supported by other studies. We did not observe a reproducible association between these three ENPP1 variants and BMI or type 2 diabetes.}},
  author       = {{Lyon, Helen N. and Florez, Jose C. and Bersaglieri, Todd and Saxena, Richa and Winckler, Wendy and Almgren, Peter and Lindblad, Ulf and Tuomi, Tiinamaija and Gaudet, Daniel and Zhu, Xiaofeng and Cooper, Richard and Ardlie, Kristin G. and Daly, Mark J. and Altshuler, David and Groop, Leif and Hirschhorn, Joel N.}},
  issn         = {{1939-327X}},
  language     = {{eng}},
  number       = {{11}},
  pages        = {{3180--3184}},
  publisher    = {{American Diabetes Association Inc.}},
  series       = {{Diabetes}},
  title        = {{Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity}},
  url          = {{http://dx.doi.org/10.2337/db06-0407}},
  doi          = {{10.2337/db06-0407}},
  volume       = {{55}},
  year         = {{2006}},
}