Znf512b Reference Search Result - Rat Genome Database

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RGD ID	Title	Citation	Abstract	PubMed	Pub Date
11555270	Association of the functional SNP rs2275294 in ZNF512B with risk of amyotrophic lateral sclerosis and Parkinson's disease in Han Chinese.	Yang X, etal., Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):142-7. doi: 10.3109/21678421.2015.1054291. Epub 2015 Aug 24.	The single nucleotide polymorphism (SNP) rs2275294 of the ZNF512B gene has been reported to be associated with a risk of ALS in the Japanese population. Here we conducted a case-control study examining the possible association of rs2275294 with risk of sporadic ... (more) ALS and PD in Han Chinese. Our study included 301 patients with ALS and 457 age- and gender-matched controls, as well as 555 patients with PD and 473 age- and gender-matched controls. Subjects were genotyped at rs2275293 using the ligase detection reaction. The genotype distribution of rs2275294 shows significant difference between patients with ALS and the control group according to the dominant model (OR 1.518, 95% CI 1.074-2.145, p = 0.018) and based on alleles (OR 1.249, 95% 1.016-1.534, p = 0.035). Stratification analysis showed a significant difference between females with ALS and female controls based on the dominant model (OR 3.285, 95% CI 1.856-5.815, p < 0.001) or alleles (OR 1.697, 95% CI 1.208-2.383, p = 0.002). In contrast, no significant differences were identified between rs2275294 and patients with PD. In conclusion, our case-control study suggests that the CC genotype and C allele at rs2275294 are associated with increased risk of ALS in Han Chinese, particularly females.	26313240	1000-10-01
11574759	Single-nucleotide Polymorphism rs2275294 in ZNF512B is not Associated with Susceptibility to Amyotrophic Lateral Sclerosis in a Large Chinese Cohort.	Ju XD, etal., Chin Med J (Engl). 2015 Dec 20;128(24):3305-9. doi: 10.4103/0366-6999.171421.	BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that primarily affects motor neurons and has no effective treatment. Recently, Iida et al. identified a single-nucleotide polymorphism (SNP) rs2275294 in the ZNF512B ... (more) gene that is significantly associated with susceptibility to ALS in the Japanese population. Here, we performed a case-control study examining the possible association of rs2275294 with risk of sporadic ALS (SALS) in a large Chinese cohort. METHODS: To assess this association, we performed a replication study in 953 SALS patients and 1039 age- and gender-matched healthy control subjects, who were recruited from Peking University Third Hospital and the First Affiliated Hospital of Anhui Medical University from January 2004 to December 2013 throughout China. We genotyped the rs2275294 SNP using polymerase chain reaction and direct sequencing. RESULTS: The allele frequency of rs2275294 in ZNF512B was different between Japanese and Chinese. The association in Chinese between ALS patients and controls did not reach statistical significance (P = 0.54; odds ratio = 0.94; 95% confidence interval = 0.76-1.15). CONCLUSIONS: The SNP rs2275294 in ZNF512B is not considered to be associated with ALS susceptibility in the Chinese population. Our study highlights genetic heterogeneity in ALS susceptibility in different population. Given our negative results, further replication study involving larger and more homogeneous samples in different ethnicities should be performed in the future.	26668144	2015-12-20