Biomedical subjects

Colin Barnstable

Publications and source records attributed to Colin Barnstable.

3 recordsLinked to original sources

PubMed2006

HTRA1 promoter polymorphism in wet age-related macular degeneration.

Age-related macular degeneration (AMD), the most common cause of irreversible vision loss in individuals aged older than 50 years, is classified as either wet (neovascular) or dry (nonneovascular). Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD. Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. A whole-genome association mapping strategy was applied to a Chinese population, yielding a P value of <10(-11). Individuals with the risk-associated genotype were estimated to have a likelihood of developing wet AMD 10 times that of individuals with the wild-type genotype.

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PubMed2005

Complement factor H polymorphism in age-related macular degeneration.

Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10(-7)). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.

Aged↗

PubMed2003

Mitochondrial uncoupling protein 2 in the central nervous system: neuromodulator and neuroprotector.

Uncoupling proteins (UCPs) are localized in the inner membrane of the mitochondria in diverse tissues and decrease mitochondrial membrane potential. The first of these proteins, UCP1, was discovered in brown adipose tissue, where it has a well-described role in thermogenesis. The functional significance of other UCPs, including UCP2, is less well understood. Here we summarize the recent advancements on the role of UCP2 in the brain and portray this uncoupler as an important player in normal neuronal function as well as a key cell death-suppressing device. These previously unknown functions of UCPs offer new avenues not only for the better understanding of these proteins but also for the furthering of our knowledge on the central nervous system in healthy and disease states.

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