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Gene Review:

LRCH1 - leucine-rich repeats and calponin homology...

Homo sapiens

Synonyms: CHDC1, Calponin homology domain-containing protein 1, KIAA1016, Leucine-rich repeat and calponin homology domain-containing protein 1, NP81, ...

Spector, T.D. et al., Snelling, S. et al.

Spector, Reneland, Mah, Valdes, Hart, Kammerer, Langdown, Hoyal, Atienza, Doherty, Rahman, Nelson, Braun, Snelling, Sinsheimer, Carr, Loughlin,

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Disease relevance of LRCH1

Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling [1].
LRCH1 was not up-regulated or overexpressed in chondrosarcoma cell lines exposed to inflammatory stimuli, suggesting a possible structural role [1].
Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus [2].

High impact information on LRCH1

Association fine-mapping using 10 additional SNPs in LRCH1 confirmed intron 1 as the region of highest association but failed to reveal variations with significance stronger than the marker SNP, as did the haplotype analysis [1].
RESULTS: The marker most strongly associated with the risk of knee OA was rs912428, a C/T polymorphism in intron 1 of LRCH1, a gene on chromosome 13q14 that encodes a novel protein of as-yet-unknown function [1].
CONCLUSION: Our data on 2257 individuals implies that the LRCH1 intron 1 SNP is not a risk factor for OA aetiology of the knee or of the hip in our UK Caucasian sample [2].

References

Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA pooling. Spector, T.D., Reneland, R.H., Mah, S., Valdes, A.M., Hart, D.J., Kammerer, S., Langdown, M., Hoyal, C.R., Atienza, J., Doherty, M., Rahman, P., Nelson, M.R., Braun, A. Arthritis Rheum. (2006) [Pubmed]
Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus. Snelling, S., Sinsheimer, J.S., Carr, A., Loughlin, J. Rheumatology (Oxford, England) (2007) [Pubmed]

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