PMID- 17204727

OWN - NLM
STAT- MEDLINE
DCOM- 20070426
LR - 20181113
IS - 1073-449X (Print)
IS - 1535-4970 (Electronic)
IS - 1073-449X (Linking)
VI - 175
IP - 6
DP - 2007 Mar 15
TI - Secreted modular calcium-binding protein 2 haplotypes are associated with
pulmonary function.
PG - 554-60
AB - RATIONALE: Previously reported linkage to FEV(1) (LOD score = 5.0) on 6q27 in
the
Framingham Heart Study (FHS) led us to explore a candidate gene, SMOC2, at
168.6
Mb. OBJECTIVES: We tested association between SMOC2 polymorphisms and FEV(1)
and
FVC in unrelated FHS participants. METHODS: Twenty single-nucleotide
polymorphisms (SNPs) around SMOC2 were genotyped in 1,734 subjects.
MEASUREMENTS
AND MAIN RESULTS: SNP data were analyzed using multiple linear regression
models
incorporating sex, age, body mass index, height, and smoking history as
covariates, and analyses were repeated within strata of ever- and never-
smokers.
The minor allele of SNP rs1402 was associated with higher mean FEV(1) (p =
0.003)
and FVC (p = 0.02) measures. In never-smoking subjects, association with
higher
measures was observed with the minor allele of rs747995 (FEV(1), p = 0.0006;
FVC,
p = 0.0008). These two SNPs lie in different haplotype blocks and reside in
intron 4 of SMOC2. Haplotype analysis revealed a common G-T haplotype
(rs747995-rs1402) with 77% frequency in never-smoking FHS subjects. The G-T
haplotype was associated with reduction of 126 ml for FEV(1) (p = 0.0002) and
157
ml for FVC (p = 0.0002). The G-T haplotype was similarly associated in a set
of
never-smoking subjects from the Family Heart Study (FEV(1), p = 0.03; FVC, p
=
0.03). CONCLUSIONS: The replication of the association in two populations
supports the possibility that SMOC2 might play an important role in the
determination of FEV(1) and FVC.
FAU - Wilk, Jemma B
AU - Wilk JB
AD - Department of Neurology, Boston University School of Medicine, Boston,
Massachusetts, USA.
FAU - Herbert, Alan
AU - Herbert A
FAU - Shoemaker, Christina M
AU - Shoemaker CM
FAU - Gottlieb, Daniel J
AU - Gottlieb DJ
FAU - Karamohamed, Samer
AU - Karamohamed S
LA - eng
GR - N01-HC-25195/HC/NHLBI NIH HHS/United States
PT - Journal Article
PT - Research Support, N.I.H., Extramural
PT - Research Support, Non-U.S. Gov't
DEP - 20070104
TA - Am J Respir Crit Care Med
JT - American journal of respiratory and critical care medicine
JID - 9421642
RN - 0 (Calcium-Binding Proteins)
RN - 0 (SMOC2 protein, human)
SB - IM
MH - Calcium-Binding Proteins/*genetics
MH - Forced Expiratory Volume/*genetics
MH - Gene Frequency
MH - Genotype
MH - *Haplotypes
MH - Humans
MH - Introns
MH - Linear Models
MH - Male
MH - Middle Aged
MH - *Polymorphism, Single Nucleotide
MH - Smoking/epidemiology
MH - Vital Capacity/*genetics
PMC - PMC1899283
EDAT- 2007/01/06 09:00
MHDA- 2007/04/27 09:00
CRDT- 2007/01/06 09:00
PHST- 2007/01/06 09:00 [pubmed]
PHST- 2007/04/27 09:00 [medline]
PHST- 2007/01/06 09:00 [entrez]
AID - 200601-110OC [pii]
AID - ajrccm1756554 [pii]
AID - 10.1164/rccm.200601-110OC [doi]
PST - ppublish
SO - Am J Respir Crit Care Med. 2007 Mar 15;175(6):554-60. doi:
10.1164/rccm.200601-110OC. Epub 2007 Jan 4.