PMID- 20092643
OWN - NLM
STAT- MEDLINE
DCOM- 20100322
LR  - 20211020
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 11
DP  - 2010 Jan 21
TI  - Large effects on body mass index and insulin resistance of fat mass and obesity 
      associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS).
PG  - 12
LID - 10.1186/1471-2350-11-12 [doi]
AB  - BACKGROUND: The polycystic ovary syndrome (PCOS), a common endocrine disorder in 
      women of child-bearing age, mainly characterised by chronic anovulation and 
      hyperandrogenism, is often associated with insulin resistance (IR) and obesity. 
      Its etiology and the role of IR and obesity in PCOS are not fully understood. We 
      examined the influence of validated genetic variants conferring susceptibility to 
      obesity and/or type 2 diabetes mellitus (T2DM) on metabolic and PCOS-specific 
      traits in patients with PCOS. METHODS: We conducted an association study in 386 
      patients with PCOS (defined by the Rotterdam-criteria) using single nucleotide 
      polymorphisms (SNPs) in or in proximity to the fat mass and obesity associated 
      gene (FTO), insulin-induced gene-2 (INSIG2), transcription factor 7-like 2 gene 
      (TCF7L2) and melanocortin 4 receptor gene (MC4R). To compare the effect of FTO 
      obesity risk alleles on BMI in patients with PCOS to unselected females of the 
      same age range we genotyped 1,971 females from the population-based KORA-S4 study 
      (Kooperative Gesundheitsforschung im Raum Augsburg, Survey 4). RESULTS: The FTO 
      risk allele was associated with IR traits and measures of increased body weight. 
      In addition, the TCF7L2 SNP was associated with body weight traits. For the SNPs 
      in the vicinity of INSIG2 and MC4R and for the other examined phenotypes there 
      was no evidence for an association. In PCOS the observed per risk allele effect 
      of FTO intron 1 SNP rs9939609 on BMI was +1.56 kg/m2, whereas it was +0.46 kg/m2 
      in females of the same age range from the general population as shown previously. 
      CONCLUSION: The stronger effect on body weight of the FTO SNP in PCOS might well 
      have implications for the etiology of the disease.
FAU - Tan, Susanne
AU  - Tan S
AD  - Department of Child and Adolescent Psychiatry, University of Duisburg-Essen, 
      Essen, Germany.
FAU - Scherag, Andre
AU  - Scherag A
FAU - Janssen, Onno Eilard
AU  - Janssen OE
FAU - Hahn, Susanne
AU  - Hahn S
FAU - Lahner, Harald
AU  - Lahner H
FAU - Dietz, Tiina
AU  - Dietz T
FAU - Scherag, Susann
AU  - Scherag S
FAU - Grallert, Harald
AU  - Grallert H
FAU - Vogel, Carla Ivane Ganz
AU  - Vogel CI
FAU - Kimmig, Rainer
AU  - Kimmig R
FAU - Illig, Thomas
AU  - Illig T
FAU - Mann, Klaus
AU  - Mann K
FAU - Hebebrand, Johannes
AU  - Hebebrand J
FAU - Hinney, Anke
AU  - Hinney A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100121
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (DNA Primers)
RN  - 0 (INSIG2 protein, human)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (MC4R protein, human)
RN  - 0 (Membrane Proteins)
RN  - 0 (Proteins)
RN  - 0 (Receptor, Melanocortin, Type 4)
RN  - 0 (TCF Transcription Factors)
RN  - 0 (TCF7L2 protein, human)
RN  - 0 (Transcription Factor 7-Like 2 Protein)
RN  - EC 1.14.11.33 (Alpha-Ketoglutarate-Dependent Dioxygenase FTO)
RN  - EC 1.14.11.33 (FTO protein, human)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Alpha-Ketoglutarate-Dependent Dioxygenase FTO
MH  - Base Sequence
MH  - Body Mass Index
MH  - DNA Primers/genetics
MH  - Female
MH  - Genetic Association Studies
MH  - *Genetic Variation
MH  - Genotype
MH  - Humans
MH  - Insulin Resistance/genetics
MH  - Intracellular Signaling Peptides and Proteins/genetics
MH  - Introns
MH  - Membrane Proteins/genetics
MH  - Middle Aged
MH  - Obesity/genetics/pathology/physiopathology
MH  - Polycystic Ovary Syndrome/*genetics/pathology/physiopathology
MH  - Polymorphism, Single Nucleotide
MH  - Proteins/*genetics
MH  - Receptor, Melanocortin, Type 4/genetics
MH  - TCF Transcription Factors/genetics
MH  - Transcription Factor 7-Like 2 Protein
PMC - PMC2824654
EDAT- 2010/01/23 06:00
MHDA- 2010/03/23 06:00
PMCR- 2010/01/21
CRDT- 2010/01/23 06:00
PHST- 2009/06/08 00:00 [received]
PHST- 2010/01/21 00:00 [accepted]
PHST- 2010/01/23 06:00 [entrez]
PHST- 2010/01/23 06:00 [pubmed]
PHST- 2010/03/23 06:00 [medline]
PHST- 2010/01/21 00:00 [pmc-release]
AID - 1471-2350-11-12 [pii]
AID - 10.1186/1471-2350-11-12 [doi]
PST - epublish
SO  - BMC Med Genet. 2010 Jan 21;11:12. doi: 10.1186/1471-2350-11-12.