PMID- 28388281
OWN - NLM
STAT- MEDLINE
DCOM- 20180706
LR  - 20180706
IS  - 1532-4206 (Electronic)
IS  - 0743-5800 (Linking)
VI  - 42
IP  - 4
DP  - 2017 Nov
TI  - The vitamin D receptor functional variant rs2228570 (C>T) does not associate with 
      type 2 diabetes mellitus.
PG  - 331-335
LID - 10.1080/07435800.2017.1305965 [doi]
AB  - AIM: Vitamin D acts through the binding to the vitamin D receptor (VDR). Several 
      polymorphisms in VDR gene have been studied. Among these, the rs2228570 C>T 
      (FokI) variant has been demonstrated to be functional, leading to a protein with 
      a different size and activity. So far, genetic studies on the association between 
      VDR gene rs2228570 single nucleotide polymorphism (SNP) and type 2 diabetes 
      mellitus (T2DM) showed contradictory results. Thus, we performed an association 
      study in a large cohort of adult Italian subjects with T2DM and in nondiabetic 
      controls. MATERIALS AND METHODS: For this study, 1713 subjects, 883 T2DM patients 
      and 830 controls, were genotyped for the polymorphism. All participants without a 
      diagnosis of diabetes underwent oral glucose tolerance test (OGTT), with 
      measurement of glucose and insulin levels. Indices of insulin resistance 
      (Homeostatic model assessment of insulin resistance, insulin sensitivity index), 
      secretion (homeostatic model assessment for beta-cell, corrected insulin response 
      at 30 minutes) and disposition index were calculated. RESULTS: Genotype 
      distributions and allele frequencies did not show difference between T2DM 
      subjects and controls. We did not find significant differences among the three 
      genotypes regarding gender, age, BMI, waist, hip, waist-to-hip ratio, and blood 
      pressure. There were also no significant differences in lipid parameters, 
      aspartate aminotransferase, and alanine aminotransferase levels. We tested for 
      association with OGTT-derived data and surrogate indices of insulin resistance 
      and secretion. We did not find significant differences among the genotypes in any 
      of above-mentioned parameters. Furthermore, vitamin D levels were measured in a 
      subgroup of subjects. We did not find significant differences among the 
      genotypes. CONCLUSIONS: Our study does not provide evidence for the association 
      of the rs2228570 polymorphism with T2DM in a Caucasian population.
FAU - Bertoccini, Laura
AU  - Bertoccini L
AD  - a Department of Experimental Medicine , Sapienza University of Rome , Rome , 
      Italy.
FAU - Sentinelli, Federica
AU  - Sentinelli F
AD  - a Department of Experimental Medicine , Sapienza University of Rome , Rome , 
      Italy.
FAU - Leonetti, Frida
AU  - Leonetti F
AD  - a Department of Experimental Medicine , Sapienza University of Rome , Rome , 
      Italy.
FAU - Bailetti, Diego
AU  - Bailetti D
AD  - a Department of Experimental Medicine , Sapienza University of Rome , Rome , 
      Italy.
FAU - Capoccia, Danila
AU  - Capoccia D
AD  - a Department of Experimental Medicine , Sapienza University of Rome , Rome , 
      Italy.
FAU - Cimini, Flavia A
AU  - Cimini FA
AD  - b Internal Medicine Unit, Department of Internal Medicine and Medical Specialties 
      , Sapienza University of Rome , Rome , Italy.
FAU - Barchetta, Ilaria
AU  - Barchetta I
AD  - b Internal Medicine Unit, Department of Internal Medicine and Medical Specialties 
      , Sapienza University of Rome , Rome , Italy.
FAU - Incani, Michela
AU  - Incani M
AD  - c Endocrinology and Diabetes, Department of Medical Sciences , University of 
      Cagliari , Cagliari , Italy.
FAU - Lenzi, Andrea
AU  - Lenzi A
AD  - a Department of Experimental Medicine , Sapienza University of Rome , Rome , 
      Italy.
FAU - Cossu, Efisio
AU  - Cossu E
AD  - c Endocrinology and Diabetes, Department of Medical Sciences , University of 
      Cagliari , Cagliari , Italy.
FAU - Cavallo, M Gisella
AU  - Cavallo MG
AD  - b Internal Medicine Unit, Department of Internal Medicine and Medical Specialties 
      , Sapienza University of Rome , Rome , Italy.
FAU - Baroni, Marco G
AU  - Baroni MG
AUID- ORCID: 0000-0002-3224-6078
AD  - a Department of Experimental Medicine , Sapienza University of Rome , Rome , 
      Italy.
AD  - d IRCCS Neuromed , Pozzilli.
LA  - eng
PT  - Journal Article
DEP - 20170407
PL  - England
TA  - Endocr Res
JT  - Endocrine research
JID - 8408548
RN  - 0 (Receptors, Calcitriol)
RN  - 0 (VDR protein, human)
RN  - 21343-40-8 (25-Hydroxyvitamin D 2)
RN  - P6YZ13C99Q (Calcifediol)
SB  - IM
MH  - 25-Hydroxyvitamin D 2/blood
MH  - Adult
MH  - Calcifediol/blood
MH  - Diabetes Mellitus, Type 2/blood/*genetics/metabolism
MH  - Female
MH  - Genetic Association Studies
MH  - Humans
MH  - Italy
MH  - Male
MH  - *Polymorphism, Single Nucleotide
MH  - Receptors, Calcitriol/*genetics/metabolism
MH  - Reproducibility of Results
OTO - NOTNLM
OT  - SNP
OT  - VDR gene
OT  - type 2 diabetes
OT  - vitamin D
EDAT- 2017/04/08 06:00
MHDA- 2018/07/07 06:00
CRDT- 2017/04/08 06:00
PHST- 2017/04/08 06:00 [pubmed]
PHST- 2018/07/07 06:00 [medline]
PHST- 2017/04/08 06:00 [entrez]
AID - 10.1080/07435800.2017.1305965 [doi]
PST - ppublish
SO  - Endocr Res. 2017 Nov;42(4):331-335. doi: 10.1080/07435800.2017.1305965. Epub 2017 
      Apr 7.