TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population.
TOMM40 rs2075650 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Chinese population.
机构:[1]Department of Ophthalmology, Peking University People’s Hospital, Beijing, China
出处:
摘要:
Purpose: Age-related macular degeneration (AMD) and Alzheimer disease (AD) are age-related neurodegenerative
diseases that share similar environmental risk factors, cellular pathologies, and genetic backgrounds. Recently, the
rs2075650 single nucleotide polymorphism in the translocase of outer mitochondrial membrane 40 homolog (TOMM40)
gene was identified as a risk factor for AMD and Alzheimer disease. We aimed to examine the associations between the
TOMM40 rs2075650 polymorphism and neovascular age-related macular degeneration (nAMD) and polypoidal choroidal
vasculopathy (PCV) in a Chinese population.
Methods: The study consisted of 900 subjects, including 300 controls, 300 cases with nAMD, and 300 cases with PCV.
Genomic DNA was extracted from venous blood leukocytes. The allelic variant of rs2075650 was determined with
matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Differences in the observed genotypic
distributions between the case and control groups were tested using chi-square tests, with age and gender adjusted using
logistic regression analysis.
Results: The TOMM40 rs2075650 polymorphism was not statistically significantly associated with the nAMD or PCV
phenotype (p>0.05). The difference remained insignificant after correction for age and gender differences based on the
logistic regression models (p>0.05).
Conclusions: Our data provide no evidence to support an association of rs2075650 in TOMM40 with nAMD or PCV,
suggesting that this gene is unlikely to be a major AMD and PCV susceptibility gene locus in the Chinese population.
语种:
中文
PubmedID:
中科院(CAS)分区:
出版当年[2012]版:
大类|3 区生物
小类|3 区眼科学4 区生化与分子生物学
最新[2025]版:
大类|4 区医学
小类|4 区生化与分子生物学4 区眼科学
第一作者:
第一作者机构:[1]Department of Ophthalmology, Peking University People’s Hospital, Beijing, China
通讯机构:[1]Department of Ophthalmology, Peking University People’s Hospital, Beijing, China