rs641153

Chromosome : 6 , Position: 31946403

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: G

Alternative Alleles: T, A

Associated Genes

CFB

SKIV2L

NELFE

TNXB

HLA-C

HLA-DQA1

HLA-DRB5

AGER

DXO

HLA-B

C4A

LY6G5B

MICA

STK19

C4B

EHMT2

SLC44A4

ZBTB12

CYP21A2

HSPA1B

NEU1

POU5F1

HSPA1A

HSPA1L

LSM2

MICB

VARS1

VWA7

ATF6B

CLIC1

DDAH2

DDX39B

EGFL8

FKBPL

HLA-DQB1

MSH5

MSH5-SAPCD1

PPT2

PPT2-EGFL8

PRRT1

PSMB9

SAPCD1

ABHD16A

AGPAT1

CSNK2B

GPANK1

GPSM3

LY6G5C

LY6G6C

LY6G6D

LY6G6E

LY6G6F

LY6G6F-LY6G6D

MPIG6B

PBX2

RNF5

APOM

BAG6

C6ORF47

NOTCH4

AIF1

LST1

LTA

LTB

NCR3

PRRC2A

TNF

ATP6V1G2

ATP6V1G2-DDX39B

MCCD1

NFKBIL1

BTNL2

TSBP1

HLA-DRA

Traits

Trait	Variant	PMID	Author (year)
Age-related macular degeneration	A	Proc Natl Acad Sci U S A	Neale BM (2010)
Age-related macular degeneration (choroidal neovascularisation)	A	Ophthalmology	Sobrin L (2012)
Age-related macular degeneration (geographic atrophy)	A	Ophthalmology	Sobrin L (2012)
Protein quantitative trait loci [Factor B]	A	PLoS Comput Biol	Ruffieux H (2020)

Summary

age related macular degeneration [PMID 16518403]

[PMID 19556007] Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology

[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population

[PMID 21541267] Complement factor B polymorphism 32W protects against age-related macular degeneration

[PMID 22440158] CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis

[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.

[PMID 18806293] Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).

[PMID 18806297] Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.

[PMID 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.

[PMID 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.

[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.

[PMID 19696172] The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.

[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

[PMID 20157618] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.

[PMID 21402993] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.

[PMID 21455292] Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.

[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.

[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration

[PMID 23919682] Complement alternative pathway genetic variation and Dengue infection in the Thai population

[PMID 24392338] Complement factor B polymorphism (rs641153) and susceptibility to age-related macular degeneration: evidence from published studies

[PMID 23373431] Complement factor B polymorphism and the phenotype of early age-related macular degeneration.

[PMID 24865190] Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population

More Information

Age-related macular degeneration (AMD) risk was statistically significant under the homozygous model (AA vs GG:OR=0.26), dominant model (AA+GA vs GG:OR=0.49) and recessive model (AA vs GA+GG:OR=0.30) [R].

Population Alleles Frequency

ethhicity frequency	T	A
African/African-American	–	0.1989
Latino/Admixed American	–	0.0696
Ashkenazi Jewish	–	0.0655
East Asian	–	0.0639
European	–	0.0816
Other (population not assigned)	–	0.0858

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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