Table 1: Summary of human PTPN1 SNP studies and the associated metabolic disorder/parameter investigated. n.s.: not significant.

SNP/polymorphismSample sizeAssociated phenotype 𝑃 valueReferences

IVS5 + 3666delT, intronic downstream of exon 5Obese patients 𝑛 = 7 1 1
Nonobese patients 𝑛 = 4 2 7
Morbid obesity (BMI ≥ 40) 𝑃 = . 0 2 [11]

rs9144858 C/G, 10 kb downstream of PTPN1Diabetic patients 𝑛 = 1 2 2 7
Normoglycaemic patients 𝑛 = 1 0 4 7
Type 2 diabetes 𝑃 = . 0 2 [12]

rs9144858 C/G, 10 kb downstream of PTPN1 Moderate obese patients 𝑛 = 6 1 6
Nonobese patients 𝑛 = 7 3 6
Moderate obesity 30 < BMI < 40 𝑃 = . 0 4 [12]

IVS6 + G82A, (G82G homozygotes)From HERITAGE study
White patients 𝑛 = 5 0 2
Increased percent fat
Increased plasma leptin
Increased subcutaneous fat
𝑃 = . 0 3 1
𝑃 = . 0 2 8
𝑃 = . 0 0 3
[13]

rs2230604, (Pro303Pro) silent mutationChinese children
Obese 𝑛 = 1 4 7
Nonobese 𝑛 = 1 1 8
Increased BMI
Increased waist circumference
Increased serum triglycerides
Higher LDL levels
𝑃 = . 0 3 3
𝑃 = . 0 4 6
𝑃 = . 0 2 0
𝑃 = . 0 0 9
[14]

1484insG, in the 3’ UTRItalian males 𝑛 = 3 3 5 Increased plasma insulin
Higher HOMA insulin resistance
Increased serum triglycerides
𝑃 < . 0 1
𝑃 < . 0 1
𝑃 < . 0 0 1
[15]

1484insG, in the 3’ UTRIranian males 𝑛 = 4 1 2 Increased plasma insulin
Higher total cholesterol
Higher LDL levels
Higher ApoB levels
Higher HOMA insulin resistance
𝑃 = . 0 0 3
𝑃 = . 0 1 2
𝑃 = . 0 3 7
𝑃 = . 0 1 5
𝑃 = . 0 1 1
[16]

20 unique SNPs within PTPN1, including 1484insGHispanic population 𝑛 = 8 1 1 Insulin sensitivity index
Fasting glucose
𝑃 = . 0 0 3 - . 0 4 4
𝑃 . 0 0 1 - . 0 2 9
[17]

P387L, missense mutationDanish Caucasian population
Type 2 diabetic patients 𝑛 = 5 2 7
Glucose tolerant controls 𝑛 = 5 4 2
Type 2 diabetes 𝑃 = . 0 3 7 [18]

rs6067484, rs6020611, rs1060402Dutch Caucasian males 𝑛 = 3 8 2 Higher total cholesterol
Higher LDL levels
𝑃 < . 0 5
𝑃 < . 0 5
[19]

12 SNPs within PTPN1 coding sequenceAmerican Caucasian population 𝑛 = 5 9 0 Increased coronary calcified plaques 𝑃 . 0 0 0 1 - . 0 4 3 [20]

g.54281T>A and g.58585T>C, g.−7077G>CTwo Asian populations, Japanese and Chinese 𝑛 = 1 5 5 3 Increased BMI
Higher cholesterol
𝑃 < . 0 5
𝑃 = . 0 1 2 4
[21]

981C>TOji-Cree population 𝑛 = 7 2 8 Lower risk for impaired glucose tolerance or type 2 Diabetes 𝑃 = . 0 4 [24]

rs2206656, rs1570179, rs3787345, rs754118, rs3215684, rs2282147, rs718049, and 1484insGCaucasian type 2 diabetic patients with end-stage renal disease 𝑛 = 3 0 0
Control nondiabetic patients 𝑛 = 3 1 0
Type 2 Diabetes 𝑃 = . 0 1 5 - . 0 4 8 [26]

rs718049Caucasian female twin population 𝑛 = 2 7 7 7 Higher waist circumference
Lower insulin sensitivity
Higher fasting insulin
Higher serum triglycerides
Higher systolic blood pressure
𝑃 = . 0 0 8
𝑃 = . 0 0 2
𝑃 = . 0 2 8
𝑃 = . 0 2 3
𝑃 = . 0 2 5
[27]

rs1885177Caucasian female twin population 𝑛 = 2 7 7 7 Lower insulin sensitivity 𝑃 = . 0 3 9 [27]

rs6067484, rs1885177, rs2282146, rs718049, rs3787348, and 1484insGCaucasian female twin population 𝑛 = 2 7 7 7 Leptin levels
Body weight
BMI
Total fat
n.s.[27]

rs6067484, rs6020611, rs3787348, rs1060402Dutch Caucasian males 𝑛 = 3 8 2 BMI
Total fat
Waist-to-hip ratio
n.s.[28]

25 SNPsPima Indian population
Type 2 diabetic patients 𝑛 = 5 7 3
Nondiabetic patients 𝑛 = 4 6 4
Type 2 diabetes obesityn.s.[29]

rs941798, rs3787345, rs2230604 (Pro303Pro), rs2282147, rs718049, rs718050, rs16995309 (Pro387Leu), and rs16989673 (1484insG)Asian Indian population
Type 2 diabetic patients 𝑛 = 2 6 2
Nondiabetic patients 𝑛 = 2 4 9
Type 2 diabetesn.s.[30]

1484insGSwedish population 𝑛 = 2 3 0 9 HOMA insulin resistance
Serum triglyceride levels
BMI
Percent body fat
n.s.[31]