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Important Haplotype Information for HMGCR

Submitted by: Marisa Wong Medina (PARC)
Reviewed by: Issam Zineh (PEAR)
Submitted date: February 6, 2006

There is One Important Haplotype for HMGCR.

  1. HMGCR:H7
Gene HGNC Name: HMGCR
Haplotype Significance: Defined by SNPs 12 and 29, H7 is associated with reduced responsiveness to pravastatin therapy. However haplotype analysis does not offer additional information than either SNP12 or SNP29 alone [PMID: 15199031].
Does this haplotype span more than one gene? No
Definitive Publication or Website: Pharmacogenetic study of statin therapy and cholesterol reduction. Chasman DI, Posada D, Subrahmanyan L, Cook NR, Stanton VP, Ridker PM. JAMA. 2004 June;291(23):2821-2827 [PMID: 15199031].
Key PubMed IDs: 15199031
How many SNPs, indels, repeats define this haplotype? Two SNPs (SNP12 and SNP29) define H7; however 33 SNPs were genotyped during identification.
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