ABSTRACT
Genome-wide association study has reported a number of genes as being associated with ankylosing spondylitis (AS) in Caucasian European populations and Chinese Han population. The aim of the study was to investigate whether single nucleotide polymorphisms (SNPs) covering the 21q22 region are associated with AS in the Chinese Guangxi Zhuang population. A case-control study was performed in unrelated patients with AS (n = 315) and age-, sex-, and ethnicity-matched controls (n = 630) from Guangxi Zhuang ethnic group. All patients met the modified New York criteria for AS. TaqMan genotyping assay was used to genotype cases and controls for 17 tag SNPs covering 21q22. After multiple-testing correction, significant association with AS was not observed in all SNP, but one block haplotype was significantly associated with AS. The pairwise analysis of the rs8126528/rs2150414/rs6517532 alleles found that the G-A-A haplotype (OR 2.92, 95 % CI 1.48-3.55; p = 0.0002, permuted p = 0.0332) significantly increased the risk of AS in comparison with the G-A-G, A-A-A and G-G-A carriers. In conclusion, the study results define a novel risk haplotypes in 21q22 that was associated with AS in the Chinese Guangxi Zhuang population. The findings was consistent with previous genetic and functional studies that point at variants of the BRWD1 and/or PSMG1 loci as interesting genetic factors contributing to AS.
Subject(s)
Asian People/genetics , Chromosomes, Human, Pair 21 , Polymorphism, Single Nucleotide , Spondylitis, Ankylosing/genetics , Adolescent , Adult , Case-Control Studies , China/epidemiology , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Haplotypes , Humans , Male , Odds Ratio , Phenotype , Risk Factors , Spondylitis, Ankylosing/diagnosis , Spondylitis, Ankylosing/ethnology , Young AdultABSTRACT
INTRODUCTION: The spontaneous blink rate (SBR) is variable in humans. It increases rapidly during childhood before reaching a plateau in adulthood at 10-20 blinks/minute. Our aim was to compare the SBR during different visual tasks in children. METHODS: Thirty-nine healthy participants (mean age(SD):13.6(3.5)years, M=21), made horizontal and vertical visually-guided saccades, tracked a horizontal and vertical target, performed horizontal and vertical active sinusoidal head rotations in light and darkness while looking straight ahead (VOR task) or fixated straight ahead and in four directions of gaze. The eyes of each participant were videotaped and reviewed twice to determine the SBR. Parametric and non-parametric tests were used to analyze the data. RESULTS: The median SBR during fixation straight ahead was seven blinks/minute, which was similar to the SBR during horizontal saccades and horizontal smooth pursuit tasks. The median SBR during vertical smooth pursuit and vertical saccades were significantly lower than during fixation (p≤0.042). The median SBR during the VOR task in light and horizontal VOR in darkness were significantly higher than during fixation (p=0.019-0.024). CONCLUSIONS: The median SBR during visual fixation was lower than that reported previously in 5-14 years-old children during rest or 11-20 years-old subjects during quiet conversation. The median SBR was even lower during vertical smooth pursuit and saccades tasks. This may be due to differences in concentration required for visual fixation in general and vertical visual tasks more specifically. The higher SBR during the VOR may be due to drying of the eyes during head shaking.
