Association of candidate gene polymorphisms with diabetic retinopathy in Chinese patients with type 2 diabetes.

Association of candidate gene polymorphisms with diabetic retinopathy in Chinese patients with type 2 diabetes.

To investigate the relationship between a set of six candidate genes and the risk of diabetic retinopathy (DR) in a cohort of Chinese patients town community with type 2 diabetes mellitus (T2DM).


METHOD
A population-based cross-sectional study. Diabetic subjects were recruited from the urban community in Beijing and categorized into groups of proliferative diabetic retinopathy (PDR), non-proliferative diabetic retinopathy (NPDR), or diabetes without retinopathy (DWR) by fundus photography and duration of diabetes.

Six candidate genes, including glycation end certain products receptor sophisticated (AGER), aldose reductase (AKR1B1), inducible nitric oxide synthase (iNOS), pigment epithelium derived factor (PEDF), tumor necrosis factor-alpha (TNF-α), and paraoxonase 1 (PON1), selected by Meta-analysis of genetic association study for DR and biochemical pathways involved in the development of DR. Allele and genotype distribution of 21 functional single nucleotide polymorphisms (SNPs) in their six candidate genes were investigated using the genotype MassARRAY system.


RESULTS
Among the 1461 patients with diabetes were recruited from the community, 569 have been selected in the following genotypic analysis, including 97 patients with PDR, with NPDR 217, and 255 with DWR. For promoter variant rs1051993 in AGER gene, allele and genotype distribution in PDR group differ from those in the group DWR (allele: P = 0.011; genotype: P = 0.01).

Compared with DWR, patients with PDR had a lower frequency of heterozygous genotype GT (9.8% for DWR, 1% for PDR, OR: 0.10, 95% CI: 0.01 to 0.72) and minor alleles T (4.9% for DWR, 0.5% for PDR, OR: 0.10, 95% CI: 0.01 to 0.75). In the multivariate model, the distribution of genotypes of rs1051993 in PDR group were significantly different from those in the group DWR (GT vs GG: OR: 0.07, 95% CI: 0.01 to 0.61, P <0.001). No association with DR SNP observed in other genotypes.


CONCLUSION
The data showed a significant association of rs1051993 variant in the gene promoter AGER with PDR in the Chinese group with type 2 diabetes.

 Association of candidate gene polymorphisms with diabetic retinopathy in Chinese patients with type 2 diabetes.
Association of candidate gene polymorphisms with diabetic retinopathy in Chinese patients with type 2 diabetes.

Sector retinitis pigmentosa: Report of ten cases and review of the literature.

To describe the genotypic and phenotypic ten patients with retinitis pigmentosa sector (RP). We also review previously reported mutations associated with RP sector and provide discussions about possible underlying pathophysiological mechanisms.

Patients underwent detailed ophthalmological examination, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), as well as visual field and electroretinographic testing. All patients underwent a genetic test to identify the molecular etiology of their disease.


result
A total of ten patients studied. Among these patients, nine had mutations in RHO (c.677T> C; p.Leu226Pro (Novel), c.68C> A; p.Pro23His, c.808A> C; p.Ser270Arg, c.44A> G; p .Asn15Ser, and c.325G> A; p.Gly109Arg), and one patient had a mutation in RPGR (c.3092_3093delAG; p.Glu1031Glyfs * 47). All patients with missense mutations in RHO have visual acuities (VAS) better than 20/30 and showed sustained ellipsoid zone retinal foveal and topped structure.

Patients with deletion c.3092_3093delAG in RPGR have a VA of 20/60 oculus dexter (OD) and the 20/400 oculus sinister (OS), as well as significant foveal contour thinning and atrophy. All patients showed changes in pigment, or marked atrophy along the lower arcade, or both. This pattern of degeneration associated with visual disabilities and hyperFAF and superior hypo.

p73

MBS8533918-01mLAF610 0.1mL(AF610)
EUR 565

p73

MBS8533918-01mLAF635 0.1mL(AF635)
EUR 565

Tumor Protein P73 (p73) Antibody

20-abx013287
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  • 100 ug
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Tumor Protein P73 (p73) Antibody

abx013287-100g 100 µg
EUR 237.5

Tumor Protein P73 (p73) Antibody

abx013287-10g 10 µg
EUR 43.75

Tumor Protein P73 (p73) Antibody

abx013287-200g 200 µg
EUR 312.5

p73 (Tumor Suppressor)(P73/2531), 1mg/mL

BNUM2531-50 1uL
EUR 396
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), 0.2mg/mL

BNUB2531-100 1uL
EUR 225
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), 0.2mg/mL

BNUB2531-500 1uL
EUR 485
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

HA- p73

PVT7187 2ug
EUR 182

p73 Antibody

8C10080 50ug
EUR 368
Description: p73 Antibody

p73 Antibody

20-abx008608
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  • 100 ul
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  • 30 ul

p73 antibody

20R-2256 50 ug
EUR 269
Description: Rabbit polyclonal p73 antibody

p73 antibody

20R-1924 50 ug
EUR 269
Description: Rabbit polyclonal p73 antibody

p73 Antibody

33579 100ul
EUR 319

p73 Antibody

33579-100ul 100ul
EUR 302.4

p73 Antibody

33579-50ul 50ul
EUR 224.4

p73 Antibody

48918-100ul 100ul
EUR 399.6

p73 Antibody

48918-50ul 50ul
EUR 286.8

p73 Antibody

E033579 100μg/100μl
EUR 255
Description: Available in various conjugation types.

p73 Antibody

E11-10080C 100μg
EUR 225
Description: Available in various conjugation types.

p73 Antibody

E18-0322-1 50μg/50μl
EUR 145
Description: Available in various conjugation types.

p73 Antibody

E18-0322-2 100μg/100μl
EUR 225
Description: Available in various conjugation types.

p73 Antibody

E18-5465-1 50μg/50μl
EUR 145
Description: Available in various conjugation types.

p73 Antibody

E18-5465-2 100μg/100μl
EUR 225
Description: Available in various conjugation types.

p73 Antibody

E18-6015-1 50μg/50μl
EUR 145
Description: Available in various conjugation types.

p73 Antibody

E18-6015-2 100μg/100μl
EUR 225
Description: Available in various conjugation types.

p73 Antibody

E90384 100μg
EUR 255
Description: Available in various conjugation types.

p73 Antibody

E38PA6105 100ul
EUR 225
Description: Available in various conjugation types.

p73 antibody

70R-33698 100 ug
EUR 294
Description: Rabbit polyclonal p73 antibody

p73 antibody

70R-34351 100 ug
EUR 294
Description: Rabbit polyclonal p73 antibody

p73 antibody

70R-37515 100 ug
EUR 260
Description: Rabbit Polyclonal p73 antibody

p73 antibody

70R-50511 100 ul
EUR 286
Description: Purified Polyclonal p73 antibody

p73 antibody

70R-50512 100 ul
EUR 242
Description: Purified Polyclonal p73 antibody

p73 Antibody

AF0322 200ul
EUR 420

p73 Antibody

AF0322-100ul 100ul
EUR 280

p73 Antibody

AF0322-200ul 200ul
EUR 350

p73 Antibody

AF6015 200ul
EUR 420

p73 Antibody

AF6015-100ul 100ul
EUR 280

p73 Antibody

AF6015-200ul 200ul
EUR 350

p73 Antibody

AF5465 200ul
EUR 420

p73 Antibody

AF5465-100ul 100ul
EUR 280

p73 Antibody

AF5465-200ul 200ul
EUR 350

p73 Antibody

ABF0322 100ug
EUR 325

p73 Antibody

ABF5465 100ug
EUR 325

p73 Antibody

ABF6015 100ug
EUR 325

p73 Antibody

F51407-0.4ML 0.4 ml
EUR 322.15
Description: TP73 is tumor protein p73, which is a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include p53, p63, and p73 and have high sequence similarity to one another, which allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways involving direct or indirect protein interactions, resulting in regulation of the same target gene promoters or regulation of each other's promoters. The p73 protein is expressed at very low levels in normal tissues and is differentially expressed in a number of tumors.

p73 Antibody

GWB-463E72 0.05 mg Ask for price

p73 Antibody

GWB-50BC20 0.1 ml Ask for price

p73 Antibody

R31648 100 ug
EUR 356.15
Description: Tumor protein 73(TP73), encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It is mapped to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Furthermore, recent finding are suggesting that over-expression of transcription factors involved in cell cycle regulation and synthesis of DNA in mammalian cells (e.g.: E2F-1) induces the expression of the protein. In addition, p73 is a substrate of the c-Abl kinase and that the ability of c-Abl to phosphorylate it is markedly increased by gamma-irradiation.

p73 Antibody

MBS9412349-005mL 0.05mL
EUR 245

p73 Antibody

MBS9412349-01mL 0.1mL
EUR 305

p73 Antibody

MBS9412349-5x01mL 5x0.1mL
EUR 1230

p73 Antibody

MBS855499-01mg 0.1mg
EUR 305

p73 Antibody

MBS855499-01mLAF405L 0.1mL(AF405L)
EUR 465

p73 Antibody

MBS855499-01mLAF405S 0.1mL(AF405S)
EUR 465

p73 Antibody

MBS855499-01mLAF610 0.1mL(AF610)
EUR 465

p73 Antibody

MBS855499-01mLAF635 0.1mL(AF635)
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p73 Antibody

MBS8583794-01mL 0.1mL
EUR 305

p73 Antibody

MBS8583794-01mLAF405L 0.1mL(AF405L)
EUR 465

p73 Antibody

MBS8583794-01mLAF405S 0.1mL(AF405S)
EUR 465

p73 Antibody

MBS8583794-01mLAF610 0.1mL(AF610)
EUR 465

p73 Antibody

MBS8583794-01mLAF635 0.1mL(AF635)
EUR 465

p73 Antibody

MBS8512092-005mg 0.05mg
EUR 235

p73 Antibody

MBS8512092-01mg 0.1mg
EUR 305

p73 Antibody

MBS8512092-01mLAF405M 0.1mL(AF405M)
EUR 465

p73 Antibody

MBS8512092-01mLAF546 0.1mL(AF546)
EUR 465

p73 Antibody

MBS8512092-01mLAF750 0.1mL(AF750)
EUR 465

p73 Antibody

MBS8512137-005mg 0.05mg
EUR 235

p73 Antibody

MBS8512137-01mg 0.1mg
EUR 305

p73 Antibody

MBS8512137-01mLAF405M 0.1mL(AF405M)
EUR 465

p73 Antibody

MBS8512137-01mLAF546 0.1mL(AF546)
EUR 465

p73 Antibody

MBS8512137-01mLAF750 0.1mL(AF750)
EUR 465

p73 Antibody

MBS8510814-005mg 0.05mg
EUR 235

p73 Antibody

MBS8510814-01mg 0.1mg
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p73 Antibody

MBS8510814-01mLAF405M 0.1mL(AF405M)
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p73 Antibody

MBS8510814-01mLAF546 0.1mL(AF546)
EUR 465

p73 Antibody

MBS8510814-01mLAF750 0.1mL(AF750)
EUR 465

p73 Antibody

MBS8504265-01mg 0.1mg
EUR 325

p73 Antibody

MBS8504265-01mLAF405L 0.1mL(AF405L)
EUR 565

p73 Antibody

MBS8504265-01mLAF405S 0.1mL(AF405S)
EUR 565

p73 Antibody

MBS8504265-01mLAF610 0.1mL(AF610)
EUR 565

p73 Antibody

MBS8504265-01mLAF635 0.1mL(AF635)
EUR 565

p73 Antibody

MBS5315130-01mL 0.1mL
EUR 535

p73 Antibody

MBS5315130-5x01mL 5x0.1mL
EUR 2270

p73 Antibody

MBS5315131-01mL 0.1mL
EUR 470

p73 Antibody

MBS5315131-5x01mL 5x0.1mL
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p73 antibody

MBS5309498-005mg 0.05mg
EUR 485

p73 antibody

MBS5309498-5x005mg 5x0.05mg
EUR 2045

p73 antibody

MBS5309688-005mg 0.05mg
EUR 485

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MBS5309688-5x005mg 5x0.05mg
EUR 2045

p73 Antibody

MBS5313847-01mg 0.1mg
EUR 420

p73 Antibody

MBS5313847-5x01mg 5x0.1mg
EUR 1740

p73 Antibody

MBS9601636-01mL 0.1mL
EUR 260

p73 Antibody

MBS9601636-02mL 0.2mL
EUR 305

p73 Antibody

MBS9601636-5x02mL 5x0.2mL
EUR 1220

p73 Antibody

MBS9601678-01mL 0.1mL
EUR 260

p73 Antibody

MBS9601678-02mL 0.2mL
EUR 305

p73 Antibody

MBS9601678-5x02mL 5x0.2mL
EUR 1220

p73 Antibody

MBS9435720-005mL 0.05mL
EUR 325

p73 Antibody

MBS9435720-01mL 0.1mL
EUR 435

p73 Antibody

MBS9435720-5x01mL 5x0.1mL
EUR 1810

p73 Antibody

MBS9504243-005mL 0.05mL
EUR 285

p73 Antibody

MBS9504243-01mL 0.1mL
EUR 385

p73 Antibody

MBS9504243-5x01mL 5x0.1mL
EUR 1590

p73 Antibody

MBS9504822-005mL 0.05mL
EUR 285

p73 Antibody

MBS9504822-01mL 0.1mL
EUR 385

p73 Antibody

MBS9504822-5x01mL 5x0.1mL
EUR 1590

p73 Antibody

D12176N-100ul 100μl
EUR 217
Description: p73 Rabbit Polyclonal Antibody

p73 Antibody

D12176N-50ul 50μl
EUR 143.5
Description: p73 Rabbit Polyclonal Antibody

p73 Antibody

MBS9600257-01mL 0.1mL
EUR 260

p73 Antibody

MBS9600257-02mL 0.2mL
EUR 305

p73 Antibody

MBS9600257-5x02mL 5x0.2mL
EUR 1220

p73 Antibody

B7191-100ul 100μl
EUR 217
Description: p73 Rabbit Polyclonal Antibody

p73 Antibody

B7191-50ul 50μl
EUR 143.5
Description: p73 Rabbit Polyclonal Antibody

p73 Antibody

C10080-100ul 100μl
EUR 217
Description: p73 Rabbit Polyclonal Antibody

p73 Antibody

C10080-50ul 50μl
EUR 143.5
Description: p73 Rabbit Polyclonal Antibody

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (AP)

MBS6441412-01mL 0.1mL
EUR 950

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (AP)

MBS6441412-5x01mL 5x0.1mL
EUR 4120

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (PE)

MBS6441422-01mL 0.1mL
EUR 950

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (PE)

MBS6441422-5x01mL 5x0.1mL
EUR 4120

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (APC)

MBS6441413-01mL 0.1mL
EUR 950

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (APC)

MBS6441413-5x01mL 5x0.1mL
EUR 4120

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (HRP)

MBS6441416-01mL 0.1mL
EUR 950

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (HRP)

MBS6441416-5x01mL 5x0.1mL
EUR 4120

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (FITC)

MBS6441415-01mL 0.1mL
EUR 950

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (FITC)

MBS6441415-5x01mL 5x0.1mL
EUR 4120

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (Biotin)

MBS6441414-01mL 0.1mL
EUR 950

TP73, Phosphorylated (Y99) (Tumor Protein p73, P73) (Biotin)

MBS6441414-5x01mL 5x0.1mL
EUR 4120

p73 (Tumor Suppressor)(P73/2531), CF594 conjugate, 0.1mg/mL

BNC942531-100 1uL
EUR 192
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF594 conjugate, 0.1mg/mL

BNC942531-500 1uL
EUR 532
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF647 conjugate, 0.1mg/mL

BNC472531-100 1uL
EUR 192
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF647 conjugate, 0.1mg/mL

BNC472531-500 1uL
EUR 532
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF568 conjugate, 0.1mg/mL

BNC682531-100 1uL
EUR 192
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF568 conjugate, 0.1mg/mL

BNC682531-500 1uL
EUR 532
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF488A conjugate, 0.1mg/mL

BNC882531-100 1uL
EUR 192
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF488A conjugate, 0.1mg/mL

BNC882531-500 1uL
EUR 532
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF640R conjugate, 0.1mg/mL

BNC402531-100 1uL
EUR 192
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF640R conjugate, 0.1mg/mL

BNC402531-500 1uL
EUR 532
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF405S conjugate, 0.1mg/mL

BNC042531-100 1uL
EUR 192
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), CF405S conjugate, 0.1mg/mL

BNC042531-500 1uL
EUR 532
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), Biotin conjugate, 0.1mg/mL

BNCB2531-100 1uL
EUR 192
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

p73 (Tumor Suppressor)(P73/2531), Biotin conjugate, 0.1mg/mL

BNCB2531-500 1uL
EUR 532
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

conclusion
Sector RP is a rare form of RP in which only one or two quadrants of the retina display signs of clinical pathology. Most cases are caused by mutations in RHO. These data confirmed earlier reports phenotypic manifestations of RP sector. Low retinal quadrants may be more severely affected because of greater exposure to light.

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