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Table 3 Genes and SNPs used in the study and type of human monogenic diabetes that has been associated with the gene

From: Searching for "monogenic diabetes" in dogs using a candidate gene approach

Gene

Protein

SNP IDs

Type of monogenic diabetes in humans

Associated literature

ABCC8

Sulfonylurea receptor 1

rs9183439

rs22988565

PNDM, TNDM

[33]

  

rs22993873

rs9044450

 

[34]

BLK

B lymphoid tyrosine kinase

rs23277058

rs23242723

MODY 11

[35]

  

rs23228211

rs23268052

 

[36]

Cel

Carboxyl ester lipase

rs8843005

rs8843006

MODY 8 (with exocrine dysfunction)

[37]

  

rs24549495

  

[38, 39]

EIF2AK3

Eukaryotic translation

rs22578314

rs9179252

PNDM (with epiphyseal dysplasia)

[40]

 

initiation factor 2a kinase

rs22578182

rs22566811

  

FOXP3

Forkhead box P3

rs24618205

rs24596299

PNDM (X-linked with immune-dysregulation, polyendocrinopathy, enteropathy)

[41]

  

rs24612921

  

[42]

HNF1A

Hepatocyte nuclear factor 1a

rs23350532

rs9013694

MODY 3

[43]

  

rs23309484

  

[20]

HNF1B

Hepatocyte nuclear factor 1b

rs24537168

rs24585301

MODY 5 (also with renal dysfunction, genital malformations) and PNDM

[44]

  

rs24537175

rs24585484

  

HNF4A

Hepatocyte nuclear factor 4a

rs23214782

rs23200327

MODY 1

[43]

  

rs8804236

rs23200360

 

[45]

  

rs23214781

rs9006559

 

[16]

INS

Insulin

rs22686871

 

PNDM, MODY

[23]

KLF11

Kruppel-like factor 11

rs22598321

rs8803647

MODY 7

[46]

MTTL1

Transfer RNA for protein

rs8648077

rs8884972

Mitochondrial diabetes (maternally transmitted with deafness)

[47]

 

translation

rs24305581

  

[48]

PAX4

Paired box 4

rs22302371

rs22302353

MODY 9

[49]

PDX1

 

rs8837751

rs8837750

MODY 4, PNDM (with pancreatic agenesis)

[50]

 

Insulin promoter factor 1

 

rs23247540

 

[21]

PTF1A

Pancreas-specific

rs8955054

rs8955053

PNDM (with pancreatic and cerebellar agenesis)

[51]

 

transcription factor 1a

rs8955055

   

RFX6

Regulatory factor X6

rs8928516

rs21958946

PNDM (with hypoplastic pancreas and gall bladder, intestinal atresia)

[52]

  

rs21890992

   

WFS1

 

rs24739532

 

PNDM (with diabetes insipidus, optic atrophy, deafness)

[53]

 

Wolframin

   

[54]

ZFP57

Zinc finger protein 57

rs23901704

rs23892119

TNDM

[55]

  

rs23892118

rs23901705

  

ZAC1/PLAG1

Pleiomorphic adenoma gene-like 1

rs23483681

 

TNDM

 
  1. PNDM: Permanent neonatal diabetes; TNDM: Transient neonatal diabetes; MODY: Maturity onset diabetes of the young.