Abstract:
OBJECTIVE:Height variability is largely under genetic control, although identifying the genetic variants involved has been until recently challenging. Smallness for gestational age (SGA) is a risk factor for adult short stature. Genome-wide association studies have identified a single nucleotide polymorphism (SNP) (rs1042725) in the high mobility group A2 gene (HMGA2) that consistently associates with height variability but its interaction with SGA is unknown. DESIGN:We assess the contribution of rs1042725 SNP and height variability in a French population and the impact of rs1042725 on SGA status at birth and height at adulthood in SGA individuals. METHODS:We genotyped rs1042725 in 4710 healthy participants from the Data from an Epidemiological Study on the Insulin Resistance syndrome (DESIR) cohort, 743 normal birth weight and 660 SGA individuals from the Haguenau study. RESULTS:rs1042725 is associated with increased height in the cohort participants (0.36 cm 95% CI (0.12-0.61) per C allele, P=0.004) but not with the SGA status or birth length. Interestingly, rs1042725 had a stronger effect on height in SGA participants (0.94 cm 95% CI (0.24-1.64) per C allele, P=0.009), especially in men (1.45 cm 95% CI (0.44-2.46) per C allele, P=0.005) in whom rs1042725 may explain 3% of height variability. SGA men carrying at least one C allele copy experienced more frequent catch-up in height (P(add)=0.07; P(dom)=0.03). CONCLUSIONS:Our study supports further the contribution of HMGA2 rs1042725 to height variability in European populations and shows an increased effect on height in SGA individuals where this variant favors height catch-up.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Bouatia-Naji N,Marchand M,Cavalcanti-Proença C,Daghmoun S,Durand E,Tichet J,Marre M,Balkau B,Froguel P,Lévy-Marchal Cdoi
10.1530/EJE-08-0794subject
Has Abstractpub_date
2009-04-01 00:00:00pages
557-60issue
4eissn
0804-4643issn
1479-683Xpii
EJE-08-0794journal_volume
160pub_type
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