Abstract
To investigate whether PDCD1 gene polymorphisms are functional, and their associations with T1D risk and related clinical characteristics. A total of 3060 Chinese Han individuals (1019 T1D patients and 2041 healthy controls) were genotyped for 4 tag single nucleotide polymorphisms (SNPs) within the PDCD1 region (rs2227982, rs7421861, rs10204525, and rs6710479) and another most studied synonymous SNP, rs2227981. In addition, 251 healthy individuals underwent an oral glucose tolerance test (OGTT); measures of insulin release and sensitivity were estimated from insulinogenic, BIGTT, Matsuda. Further, we performed in silico bioinformatics analysis to explore potential functional annotation of the investigated SNPs in PDCD1 gene. Both rs2227982 and rs2227981 polymorphisms were associated with T1D risk in Chinese Han population under additive model (OR = 0.84, 95% CI 0.75-0.93 and OR = 1.23, 95% CI 1.08-1.40, respectively), but not the other three SNPs in PDCD1 gene. Our meta-analysis revealed that rs2227982 and rs2227981 polymorphisms also have significant associations with T1D risk in East Asians (OR = 0.82, 95% CI 0.74-0.90 and OR = 1.23, 95% CI 1.12-1.36, respectively), but not Europeans. And the T allele of rs2227982 polymorphis...Continue Reading
References
Mar 26, 2002·Nature Reviews. Immunology·Arlene H Sharpe, Gordon J Freeman
Oct 29, 2002·Nature Genetics·Ludmila ProkuninaMarta E Alarcón-Riquelme
Nov 18, 2003·Tissue Antigens·C NielsenS T Lillevang
Mar 18, 2004·Journal of the National Cancer Institute·Sholom WacholderNathaniel Rothman
May 25, 2005·Annals of Neurology·Antje KronerHeinz Wiendl
Aug 10, 2005·Proceedings of the National Academy of Sciences of the United States of America·Jian WangTasuku Honjo
Apr 15, 2006·Diabetologia·R HermannJ Ilonen
Jun 29, 2006·Nature Genetics·John A Todd
Jan 5, 2007·Human Genetics·Ronghua NiToshiro Hara
May 11, 2007·Clinical Endocrinology·P R NewbyM J Simmonds
Jun 16, 2007·Metabolism: Clinical and Experimental·Yoshihisa HiromineToshio Ogihara
Nov 16, 2007·Nature·Sergey NejentsevUNKNOWN Wellcome Trust Case Control Consortium
Nov 29, 2007·Diabetic Medicine : a Journal of the British Diabetic Association·S AsadUNKNOWN Diabetes Incidence in Sweden Study Group
Nov 30, 2007·BMC Medical Genetics·Jason D CooperJohn A Todd
Jan 13, 2010·Human Genetics·Yoshito IshizakiToshiro Hara
May 21, 2010·Diabetes·Tarvo RajasaluReinhold Schirmbeck
Jun 4, 2010·International Journal of Immunogenetics·M FichnaJ Nowak
Aug 11, 2011·PLoS Genetics·Vincent PlagnolJohn A Todd
Aug 17, 2012·Current Diabetes Reports·Johanna Lempainen, Jorma Ilonen
Mar 9, 2013·Nature Reviews. Immunology·Lieping Chen, Dallas B Flies
Apr 3, 2013·Diabetes·Kristen E PaukenBrian T Fife
Sep 24, 2013·Trends in Immunology·Maja Wållberg, Anne Cooke
Jun 20, 2014·Zeitschrift für Rheumatologie·Y H LeeG G Song
Jul 2, 2014·Proceedings of the National Academy of Sciences of the United States of America·Tina FløyelFlemming Pociot
Feb 17, 2015·Clinical and Experimental Immunology·R FujisawaT Hanafusa
Sep 24, 2015·Current Diabetes Reports·Tina FløyelFlemming Pociot
Apr 1, 2016·PloS One·Wenjing DongJiewen Peng
May 14, 2016·Medicine·Kuanfeng XuTao Yang
May 27, 2016·Science China. Life Sciences·Jin LiuTao Yang
Jun 16, 2016·Lancet·Flemming Pociot, Åke Lernmark
Citations
Dec 13, 2018·DNA and Cell Biology·Yuyu LiMeiqin Zheng
Mar 13, 2020·British Journal of Biomedical Science·M A AliS Kaddafy
Sep 26, 2020·Frontiers in Endocrinology·Marika Falcone, Georgia Fousteri
Aug 30, 2020·Immunogenetics·Saubashya Sur
Jul 3, 2021·Cancers·Hidekazu TakahashiTsuyoshi Tanabe