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Haplotypes defined ...
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Stewart, Tracy L
(author)
Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women
- Article/chapterEnglish2006
Publisher, publication year, extent ...
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The Endocrine Society,2006
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LIBRIS-ID:oai:lup.lub.lu.se:218bd4d6-377d-4d5f-a4db-0a19e98941f0
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https://lup.lub.lu.se/record/1136335URI
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https://doi.org/10.1210/jc.2005-2651DOI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
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CONTEXT: The COLIA1 gene is a strong candidate for susceptibility to osteoporosis. The causal genetic variants are currently unclear, but the most likely are functional polymorphisms in the promoter and intron 1 of COLIA1. OBJECTIVE: The objective of the study was to determine whether promoter and intron 1 polymorphisms of COLIA1 or haplotypes defined by these polymorphisms regulate bone mineral density (BMD) in women. DESIGN: This was a population-based association study involving 3270 women from the United Kingdom who took part in a regional osteoporosis screening program. MAIN OUTCOME MEASURES: BMD at the lumbar spine (LS-BMD) and femoral neck (FN-BMD) was measured on two occasions approximately 6 yr apart, in relation to polymorphisms and haplotypes defined by polymorphisms within the COLIA1 intron 1 (+1245G/T; rs1800012) and promoter (-1997G/T; rs1107946; -1663IndelT; rs2412298). RESULTS: The polymorphisms were in strong linkage disequilibrium, and three haplotypes accounted for more than 95% of alleles at the COLIA1 locus. The individual polymorphisms were associated with BMD, but the most consistent associations were with haplotypes defined by all three polymorphisms. Homozygote carriers of haplotype 2 (-1997G/-1663delT/+1245T) had reduced BMD at baseline (P = 0.007 for LS-BMD; P = 0.008 for FN-BMD), whereas homozygotes for haplotype 3 (-1997T/-1663insT/+1245G) had increased BMD (P = 0.007 for LS-BMD). Similar associations were observed at follow-up for haplotype 3, but the association with haplotype 2 was weaker due to increased uptake of hormone replacement therapy in homozygotes for this haplotype. CONCLUSIONS: Two haplotypes defined by polymorphisms in the 5' flank of the COLIA1 regulate BMD in a bidirectional manner in women.
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Jin, Huilin
(author)
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McGuigan, FionaLund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups(Swepub:lu)med-fam
(author)
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Albagha, Omar M E
(author)
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Garcia-Giralt, Natalia
(author)
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Bassiti, Amelia
(author)
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Grinberg, Daniel
(author)
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Balcells, Susana
(author)
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Reid, David M
(author)
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Ralston, Stuart H
(author)
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Ortopedi - klinisk och molekylär osteoporosforskningForskargrupper vid Lunds universitet
(creator_code:org_t)
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In:Journal of Clinical Endocrinology and Metabolism: The Endocrine Society91:9, s. 3575-35831945-71970021-972X
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Stewart, Tracy L
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Jin, Huilin
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McGuigan, Fiona
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Albagha, Omar M ...
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Garcia-Giralt, N ...
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Bassiti, Amelia
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Grinberg, Daniel
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Balcells, Susana
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Reid, David M
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Ralston, Stuart ...
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