Linked Life Data

12764676

Source:http://linkedlifedata.com/resource/pubmed/id/12764676

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2003-7-1
pubmed:abstractText
Factors predisposing to the phenotypic features of hypertriglyceridemia have not been clearly defined. Here we report an association between a missense coding region polymorphism Asn985Tyr in the retinitis pigmentosa 1 gene ( RP1) and plasma triglyceride (TG) levels in 332 adult individuals from an east-central area of Japan. Age and gender-adjusted levels of LDL-cholesterol, TG, and HDL-cholesterol were analyzed. When we separate the subjects into two genotypic groups regarding this amino acid variation, those who lack the 985-Asn allele (asparagine at residue 985) had significantly higher plasma TG levels than the others who had at least one 985-Asn allele (mean: 175.8 mg/dl vs 123.3 mg/dl; P=0.0006, Mann-Whitney test). Similarly, the former subjects had significantly lower HDL-cholesterol levels than the latter (mean: 48.0 mg/dl vs 53.8 mg/dl; P=0.038). Of the 280 individuals without a 985-Asn allele, approximately half of the individuals presented with hypertriglyceridemia, whereas only a quarter were hypertriglyceridemic among 52 individuals with the 985-Asn allele ( P=0.04). Although this SNP marker may itself be in linkage disequilibrium with other unexamined functional variants within this locus, our data suggest that genetic variation at the RP1 locus is one of the likely candidate determinants for plasma triglyceride and HDL-cholesterol metabolisms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
305-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene.
pubmed:affiliation
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't