The grainyhead-like 2 gene (GRHL2 ) single nucleotide polymorphism is not associated with age-related hearing impairment in Han Chinese

2011 ◽  
Vol 121 (6) ◽  
pp. 1303-1307 ◽  
Author(s):  
Yan-Han Lin ◽  
Chen-Chi Wu ◽  
Chuan-Jen Hsu ◽  
Juen-Haur Hwang ◽  
Tien-Chen Liu
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Hearing Impairment ◽  
Han Chinese ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Age Related

Post-hoc analysis of single nucleotide polymorphism profile for eyes with vascularized pigment epithelial detachment due to ARMD

2020 ◽  
pp. 112067212093282
Author(s):  
Daniel Lee ◽  
Clement K Chan ◽  
Prema Abraham ◽  
David Sarraf
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Age Related Macular Degeneration ◽  
Pigment Epithelial Detachment ◽  
Severity Scale ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pigment Epithelial ◽  
Age Related ◽  
Post Hoc ◽  
High Responders

Introduction: This post-hoc case-control study compares single nucleotide polymorphism (SNP) profile of eyes with vascularized pigment epithelial detachment (vPED) due to age-related macular degeneration (ARMD) with: (1) Control-1 eyes (no ARMD and AREDS Severity Scale 0); and (2) Control-2 eyes (drusen or AREDS Severity Scale 2). SNP profile of High Responders (HR) was also compared with Low Responders (LR) to ranibizumab. Methods: Blood samples from 40 patients with vPED treated with ranibizumab were sent for SNP-specific genotype analysis for comparison of variant allele frequencies of 23 SNPs associated with ARMD (VAF) to VAF in 184 Control-1 eyes, and VAF in 85 Control-2 eyes. VAF of HR-50 (⩾50% decrease in PED height) and VAF of HR-75 (⩾75% decrease in PED height) were also compared with VAF of LR. Results: These SNPs were more frequent in vPED than Control-1 eyes: APOE rs4420638 (A/G), HTRA1 rs104904924 (G/T), VEGF rs943080 (T/C), CFH rs1061170 (T/C), CFH rs2274700 (C/T), CFH rs10737680 (A/C), CFH rs10801555 (G/A). These SNPs were more frequent in vPED than Control-2 eyes: APOE rs4420638 (A/G), CFI rs4698775 (G/T), COL15A1/TGFBR1 rs334353 (T/G). FRK rs3812111 (T/A) was more frequent in HR-50 and HR-75 eyes compared with LR. Conclusion: Seven SNPs were more frequent in vPED eyes than non-ARMD eyes, and three SNPs were more frequent in vPED eyes than drusen eyes. Adjusting for multiplicity, only CFH rs2274700 (C/T) was significant for first comparison, and only COL15A1/TGFBR1 rs334353 (T/G) was significant for second comparison. APOE rs4420638 (A/G) was the single SNP more frequently linked to vPED eyes for both comparisons. FRK rs3812111 (T/A) was consistently associated with high responders.

Association of Single-Nucleotide Polymorphism in ANK1 with Late-Onset Alzheimer’s Disease in Han Chinese

2015 ◽  
Vol 53 (9) ◽  
pp. 6476-6481 ◽  
Author(s):  
Song Chi ◽  
Jing-Hui Song ◽  
Meng-Shan Tan ◽  
Wei Zhang ◽  
Zi-Xuan Wang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Late Onset ◽  
Han Chinese ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Single nucleotide polymorphism rs1333049 on chromosome 9p21.3 is associated with Alzheimer's disease in Han Chinese

2010 ◽  
Vol 411 (17-18) ◽  
pp. 1204-1207 ◽  
Author(s):  
Jin-Tai Yu ◽  
Yang Yu ◽  
Wei Zhang ◽  
Zhong-Chen Wu ◽  
Yang Li ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Han Chinese ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide
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