[Association of single nucleotide polymorphism in complement factor I gene with age-related macular degeneration].

OBJECTIVE: To investigate the association of three single nucleotide polymorphism (SNP) in the upstream of the complement factor I (CFI) gene with age-related macular degeneration (AMD) in a Chinese population. METHODS: Case-control study. Patients with early or late stages of AMD and healthy control subjects were recruited. Genomic DNA was extracted from the peripheral venous blood. Genotyping for SNP rs10033900: T > C, rs13117504: C > G and rs2285714: C > T in the upstream of the CFI gene was determined by using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Statistical analysis was performed using the R statistical analysis package. RESULTS: A total of three hundreds and seventy nine participants were enrolled in the study, including 119 patients with exudative AMD, 120 patients with early AMD and 140 control individuals without AMD. Frequency of the minor allele C of rs10033900 in exudative AMD, early AMD and control groups were 17.4% (40/230), 22.5% (54/240) and 29.3% (82/280), respectively. Significant association of rs10033900 was detected with exudative AMD (χ(2) = 9.82, P = 0.002, OR = 0.57, 95%CI: 0.36 - 0.88), but not with early AMD (χ(2) = 3.08, P = 0.079). Frequency of the minor allele G of rs13117504 in exudative AMD, early AMD and control groups were 38.6% (91/236), 54.2% (130/240) and 51.8% (145/280), respectively. Significant association of rs13117504 was detected with exudative AMD (χ(2) = 9.03, P = 0.003, OR = 0.56, 95%CI: 0.39 - 0.82), but not with early AMD (χ(2) = 0.29, P = 0.59). No association was detected between rs2285714 and exudative AMD (χ(2) = 0.72, P = 0.31) or between rs2285714 and early AMD (χ(2) = 2.30, P = 0.13). CONCLUSION: The minor allele of rs10033900 and rs13117504 in the CFI gene may have a protective role against the risk of exudative AMD.

[Development of an indicator system for recognizing the sub-health status and study on the related reliability and validity].

OBJECTIVE: To establish a subjective indicator system for the evaluation of sub-health status and study on its reliability and validity. METHODS: Based on the basic features of general malice and losing ability of workforce, the indicator system for sub-health status evaluation was developed according to the chronic stress on human body' s main systems. The items were adjusted according to the experience from experts and the results of the pilot study. Indices as Chronbach's alpha, IIC and ICC were used to evaluate the reliability of the questionnaire. Factor analysis and ANOVA were used to evaluate the construct validity and discriminative ability of the questionnaire. RESULTS: The formal sub-health survey questionnaire would include five domains and 25 questions in total. The whole questionnaire's Chronbach's alpha coefficient was 0.92. Cronbach's alpha of the four domains, including cardiovascular, digestive tract, immunity and mental health were no less than 0.7 while IIC ranging from 0.51 to 0.72 and ICC ranging from 0.89 to 0.98. The five extracted common factors which contributed 62.35% to the total variation were basically consistent with the five dimensions. ANOVA showed significant differences among different groups (P<0.05). CONCLUSION: The questionnaire appeared reliable and valid for measurement of sub-health status.