Gene

Chromosome localization

Polymorphism

Position in gene

Allele/Genotype/Haplotype associated with disease

Clinical picture

Functional alterations

Population studied

Ref.

MBL2

10q11.2-q21

-221 X,Y
A (52C, 54G, 57G),
O (52T, 54A, 57A)

Promoter and exon 1

YA/YA, YA/XA

RHD - MS

High production of MBL

Brazilian

7

A (52C, 54G, 57G), O (52T, 54A, 57A)

O, O/O

RHD - AR

Low level of MBL in sera

Brazilian

8

FCN2

9q34

-986G/A, -602G/A, -4G/A

promoter

G/G/A

RHD

Low levels of ficolin 2

Brazilian

9

TLR2

4q32

    2258A/G (753 Arg/Gln)

exon 3

753Gln, Arg753Gln

ARF

Low level of pathogen recognition

Turkish

10

FCγRIIA

1q21-q23

494A/G (131H/R)

exon 4

131R, R/R (high risk), R/H (intermediate risk)

ARF

Low ability of binding human IgG2

Turkish

14

IL1RA

2q14.2

A1,A2,A3,A4

Intron 2

A1/A1

RHD

Low level of receptor expression

Egyptian

16

A1, A1/A1

RHD

Brazilian

17

TNFα

6p21.3

-308G/A

promoter

A

RHD

Th1/Th2 imbalance

Mexican

20

A/A

RHD-MVL

Egyptian

16

A/A, G/G

RHD-MVD

Egyptian

16

A

ARF/RHD

Brazilian

18

A

ARF/RHD

High production of TNF alpha

Turkish

19

-238G/A

promoter

G, G/G

RHD

Mexican

18

A

ARF/RHD

Brazilian

19

TGFβ

19q13.1

-509C/T

promoter

T

RHD

Th1/Th2 imbalance

Egyptian

24

C/C

HD x RHD

Protection to RHD

Chinese

23

 869T/C

Exon 1

T, T/T

RHD

Egyptian

24

IL-10

1q31-q32

-1082G/A

promoter

G/G

RHD-MVD

Th1/Th2 imbalance

Egyptian

16

A/A

RHD-MVL

Egyptian

16

CTLA4

+49A/G

Exon 1

G/G

RHD

CTLA-4 affected inhibitory function

Turkish

25