RGD Reference Report - No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A. - Rat Genome Database

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No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A.

Authors: Zhang, A-Mei  Jia, Xiaoyun  Zhang, Qingjiong  Yao, Yong-Gang 
Citation: Zhang AM, etal., Hum Genet. 2010 Oct;128(4):465-8. doi: 10.1007/s00439-010-0875-7. Epub 2010 Aug 14.
RGD ID: 12902618
Pubmed: PMID:20711738   (View Abstract at PubMed)
DOI: DOI:10.1007/s00439-010-0875-7   (Journal Full-text)

According to a recent genome-wide linkage scan and association study of families with m.11778G>A in Thailand, two single nucleotide polymorphisms (SNPs) (rs3749446 and rs1402000) in the presenilins-associated rhomboid-like (PARL) gene were found to be associated with Leber hereditary optic neuropathy (LHON). In order to verify this association in Chinese LHON patients, we genotyped three PARL gene variants (rs3749446, rs953419, and rs1402000) in 179 patients with m.11778G>A and 170 patients with suspected LHON, and compared them to a control population containing the HapMap Chinese and 58 normal individuals analyzed in this study. We identified no association between these PARL gene SNPs and LHON in Chinese patients with m.11778G>A (P>0.05). Haplotype analysis also showed no statistical difference among the three Chinese populations.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PARLHumanLeber hereditary optic neuropathy no_associationIAGP DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)RGD 
ParlRatLeber hereditary optic neuropathy no_associationISOPARL (Homo sapiens)DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)RGD 
ParlMouseLeber hereditary optic neuropathy no_associationISOPARL (Homo sapiens)DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Parl  (presenilin associated, rhomboid-like)

Genes (Mus musculus)
Parl  (presenilin associated, rhomboid-like)

Genes (Homo sapiens)
PARL  (presenilin associated rhomboid like)


Additional Information