PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women.
BACKGROUND
Bone size (BS) variation is under strong genetic control and plays an important role in determining bone strength and fracture risk. Recently, a genome-wide association study identified polymorphisms associated with hip BS variation in the PLCL1 (phospholipase c-like 1) locus. Carriers of the major A allele of the most significant polymorphism, rs7595412, have around 17% larger hip BS than non-carriers. We therefore hypothesized that this polymorphism may also influence postmenopausal complications.


METHODS
The effects of rs7595412 on hip BS, bone mineral density (BMD), vertebral fractures, serum Crosslaps and osteocalcin levels were analyzed in 1,191 postmenopausal Danish women.


RESULTS
This polymorphism had no influence on hip and spine BS as well as on femur and spine BMD. Women carrying at least one copy of the A allele had lower levels of serum osteocalcin as compared with those homozygous for the G allele (p = 0.03) whereas no effect on serum Crosslaps was detected. Furthermore, women homozygous for the A allele were more affected by vertebral fractures than those carrying at least one copy of the G allele (p = 0.04).


CONCLUSIONS
In postmenopausal women, our results suggest that the PLCL1 rs7595412 polymorphism has no obvious effect on hip BS or BMD but may be nominally associated with increased proportion of vertebral fracture and increased levels of osteocalcin.
Cauchi
Stéphane
S
CNRS 8090-Institute of Biology, Pasteur Institute, Lille, France.
Byrjalsen
Inger
I
Durand
Emmanuelle
E
Karsdal
Morten A
MA
Froguel
Philippe
P
D000368:Aged; D015519:Bone Density / Q000235:genetics*; D003718:Denmark; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006615:Hip / Q000473:pathology*; D006801:Humans; D016014:Linear Models; D009929:Organ Size; D015663:Osteoporosis, Postmenopausal / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon