Table 1 Details of INK4 locus SNPs at 9p21 in East Indian cohort

From: Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population

  

Controls (n = 708)

POAG (n = 700)

HTG** (n = 464)

Non-HTG** (n = 208)

SNP

Minor allele

MAF

MAF

p-value

OR(95%CI)

MAF

p-value

OR(95%CI)

MAF

p-value

OR(95%CI)

rs2811708

A

0.17

0.17

0.96

0.99(0.75-1.31)

0.16

0.90

0.98(0.72-1.34)

0.16

0.93

0.98(0.65-1.48)

rs3731239

G

0.23

0.22

0.79

0.97(0.75-1.24)

0.22

0.99

1(0.76-1.33)

0.19

0.38

0.84(0.57-1.24)

rs2811709

A

0.05

0.04

0.38

0.79(0.47-1.33)

0.034

0.31

0.73(0.4-1.34)

0.028

0.26

0.61(0.25-1.47)

rs4074785

A

0.17

0.19

0.32

1.15(0.88-1.51)

0.18

0.43

1.13(0.83-1.53)

0.19

0.45

1.17(0.78-1.74)

rs3731217

C

0.11

0.13

0.46

1.13(0.82-1.55)

0.12

0.66

1.08(0.76-1.56)

0.13

0.33

1.25(0.8-1.98)

rs3218020*

A

0.37

0.34

0.07

1.22(0.98-1.51)

0.41

0.11

1.21(0.95-1.54)

0.43

0.08

1.32(0.97-1.81)

rs2811712

G

0.15

0.13

0.23

0.83(0.62-1.12)

0.13

0.24

0.82(0.58-1.15)

0.12

0.3

0.79(0.5-1.24)

rs3218018

C

0.06

0.04

0.16

0.7(0.43-1.15)

0.038

0.14

0.66(0.37-1.16)

0.033

0.17

0.57(0.25-1.28)

rs3217992

A

0.39

0.42

0.21

1.15(0.93-1.42)

0.42

0.28

1.14(0.9-1.45)

0.44

0.16

1.25(0.91-1.71)

rs1063192*

G

0.25

0.24

0.9

0.98(0.77-1.26)

0.24

0.94

1.01(0.77-1.33)

0.22

0.56

0.9(0.62-1.29)

rs2069426

A

0.06

0.04

0.09

0.66(0.4-1.08)

0.036

0.08

0.6(0.34-1.07)

0.033

0.15

0.55(0.24-1.25)

rs3217980

A

0.01

0

0.13

0.38(0.1-1.43)

0.004

0.20

0.38(0.08-1.79)

0.004

0.4

0.42(0.05-3.4)

rs2069422

C

0.06

0.04

0.12

0.69(0.42-1.11)

0.038

0.12

0.64(0.36-1.13)

0.033

0.15

0.55(0.24-1.25)

rs573687*

A

0.23

0.23

0.86

1.02(0.8-1.31)

0.23

0.79

1.04(0.79-1.37)

0.22

0.78

0.95(0.66-1.38)

rs13298881

G

0.02

0.02

0.83

1.08(0.53-2.2)

0.02

0.97

1.02(0.45-2.29)

0.028

0.52

1.37(0.53-3.58)

rs545226

G

0.39

0.42

0.31

1.12(0.9-1.38)

0.42

0.36

1.12(0.88-1.42)

0.43

0.25

1.2(0.88-1.64)

rs7049105*

A

0.4

0.37

0.35

0.9(0.73-1.12)

0.37

0.41

0.9(0.71-1.15)

0.35

0.28

0.84(0.61-1.16)

rs2157719*

G

0.25

0.24

0.76

0.96(0.75-1.23)

0.24

0.84

0.97(0.74-1.28)

0.23

0.6

0.91(0.63-1.31)

rs1759417

A

0.03

0.02

0.28

0.67(0.32-1.4)

0.017

0.35

0.67(0.29-1.56)

0.019

0.6

0.75(0.25-2.23)

rs2151280*

G

0.4

0.38

0.39

0.91(0.73-1.13)

0.37

0.48

0.92(0.72-1.17)

0.35

0.25

0.83(0.6-1.14)

rs1412829*

G

0.24

0.23

0.85

0.98(0.76-1.25)

0.23

0.93

0.99(0.75-1.3)

0.22

0.63

0.91(0.63-1.32)

rs1333034

G

0.06

0.04

0.15

0.7(0.43-1.15)

0.038

0.14

0.66(0.37-1.16)

0.033

0.17

0.57(0.25-1.28)

rs10120688*

G

0.39

0.35

0.07

0.82(0.66-1.02)

0.35

0.20

0.85(0.67-1.09)

0.31

0.048

0.72(0.52-1)

rs1011970

A

0.27

0.23

0.048

0.78(0.62-1)

0.23

0.11

0.8(0.61-1.05)

0.21

0.08

0.72(0.49-1.04)

rs4977756*

G

0.24

0.24

0.95

0.99(0.78-1.27)

0.24

0.72

1.05(0.8-1.38)

0.21

0.41

0.86(0.59-1.25)

rs7855162

G

0.09

0.09

0.76

0.94(0.65-1.36)

0.086

0.81

0.95(0.63-1.44)

0.086

0.86

0.95(0.55-1.65)

rs1412832*

G

0.22

0.24

0.38

1.12(0.87-1.43)

0.24

0.50

1.1(0.83-1.45)

0.24

0.63

1.09(0.76-1.57)

rs10116277*

C

0.38

0.36

0.51

0.93(0.75-1.15)

0.37

0.81

0.97(0.76-1.24)

0.33

0.25

0.83(0.6-1.15)

rs1547705

C

0.03

0.03

0.56

0.83(0.45-1.54)

0.028

0.66

0.86(0.43-1.71)

0.028

0.79

0.88(0.36-2.2)

rs1333040

G

0.36

0.35

0.77

0.97(0.78-1.21)

0.35

0.95

0.99(0.78-1.27)

0.33

0.5

0.89(0.64-1.24)

rs4977574

A

0.48

0.45

0.16

0.86(0.7-1.06)

0.45

0.34

0.89(0.71-1.13)

0.42

0.16

0.8(0.59-1.09)

rs10965235

A

0.08

0.07

0.41

0.85(0.58-1.25)

0.073

0.48

0.85(0.55-1.32)

0.067

0.42

0.78(0.43-1.43)

rs944797

A

0.46

0.43

0.23

0.88(0.71-1.09)

0.44

0.47

0.92(0.72-1.16)

0.41

0.2

0.82(0.6-1.12)

rs2383207*

A

0.38

0.36

0.44

0.92(0.74-1.14)

0.36

0.73

0.96(0.75-1.22)

0.34

0.4

0.87(0.63-1.2)

  1. *SNPs which have been found to be associated with POAG in the previous studies,
  2. **HTG and Non-HTG cohorts are the subtypes of POAG cohort.
  3. Note: p-values in bold represents marginal association of SNPs. Italicized rs-IDs represent 20 tag SNPs chosen for haplotype association test shown in supplementary Table S2 ; Control data is same for POAG, HTG and Non-HTG groups.
  4. Abbreviations- n: Number of chromosomes, HTG: High Tension Glaucoma, Non-HTG: Non-High Tension Glaucoma, MAF: Minor allele frequency, OR: Odds ratio, CI: Confidence interval.
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