PMID- 18617186
OWN - NLM
STAT- MEDLINE
DCOM- 20081107
LR  - 20220316
IS  - 1095-8584 (Electronic)
IS  - 0022-2828 (Linking)
VI  - 45
IP  - 2
DP  - 2008 Aug
TI  - Sex hormone receptor gene variation associated with phenotype in male 
      hypertrophic cardiomyopathy patients.
PG  - 217-22
LID - 10.1016/j.yjmcc.2008.05.016 [doi]
AB  - Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous disease, which 
      suggests that a number of factors exist which modify disease outcome. Gender may 
      be one such factor as more males present with the disease compared with females. 
      The aim of the present study was to determine if an association exists between 
      genetic variation in sex hormone receptors and the development of left 
      ventricular hypertrophy in HCM. The study population included 200 unrelated 
      individuals from an Australian HCM cohort. Clinical evaluation was performed. 
      Genetic analysis of the androgen receptor (AR), estrogen receptor 1 (ESR1), 
      estrogen receptor 2 (ESR2), and aromatase (CYP19A1) genes, was carried out in all 
      patients. Fewer (CAG)n repeats within the AR gene were significantly associated 
      with higher maximal left ventricular wall thickness (LVWT) in males (P=0.008), 
      adjusting for age. Male carriers of the A allele at SNP rs6915267, located in the 
      promoter region of ESR1, had an 11% decrease in mean LVWT compared to male GG 
      homozygotes (P=0.047). We report for the first time that variation at the AR gene 
      is associated with left ventricular hypertrophy in males with HCM. Understanding 
      the impact of sex hormones on phenotype will be helpful in the risk 
      stratification and clinical management of HCM patients.
FAU - Lind, Joanne M
AU  - Lind JM
AD  - Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, 
      Australia.
FAU - Chiu, Christine
AU  - Chiu C
FAU - Ingles, Jodie
AU  - Ingles J
FAU - Yeates, Laura
AU  - Yeates L
FAU - Humphries, Stephen E
AU  - Humphries SE
FAU - Heather, Alison K
AU  - Heather AK
FAU - Semsarian, Christopher
AU  - Semsarian C
LA  - eng
GR  - RG/08/008/25291/BHF_/British Heart Foundation/United Kingdom
GR  - RG 2005/015/BHF_/British Heart Foundation/United Kingdom
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080709
PL  - England
TA  - J Mol Cell Cardiol
JT  - Journal of molecular and cellular cardiology
JID - 0262322
RN  - 0 (AR protein, human)
RN  - 0 (ESR1 protein, human)
RN  - 0 (Estrogen Receptor alpha)
RN  - 0 (Gonadal Steroid Hormones)
RN  - 0 (Receptors, Androgen)
SB  - IM
MH  - Cardiomyopathy, Hypertrophic/*genetics
MH  - Estrogen Receptor alpha/*genetics/metabolism
MH  - Female
MH  - *Genetic Variation
MH  - Genotype
MH  - Gonadal Steroid Hormones/*metabolism
MH  - Humans
MH  - Hypertrophy, Left Ventricular/genetics/metabolism
MH  - Male
MH  - Middle Aged
MH  - *Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic
MH  - Receptors, Androgen/*genetics/metabolism
EDAT- 2008/07/12 09:00
MHDA- 2008/11/08 09:00
CRDT- 2008/07/12 09:00
PHST- 2008/04/07 00:00 [received]
PHST- 2008/05/22 00:00 [revised]
PHST- 2008/05/22 00:00 [accepted]
PHST- 2008/07/12 09:00 [pubmed]
PHST- 2008/11/08 09:00 [medline]
PHST- 2008/07/12 09:00 [entrez]
AID - S0022-2828(08)00453-7 [pii]
AID - 10.1016/j.yjmcc.2008.05.016 [doi]
PST - ppublish
SO  - J Mol Cell Cardiol. 2008 Aug;45(2):217-22. doi: 10.1016/j.yjmcc.2008.05.016. Epub 
      2008 Jul 9.