. Author manuscript; available in PMC: 2018 Oct 8.

Published in final edited form as: Hematol Oncol. 2015 Jun 5;35(1):34–50. doi: 10.1002/hon.2235

Table 1. Polymorphisms studied as risk factors for Hodgkin Lymphoma.

Class/Gene	Polymorphism	Type	AA change	Effect	Methods of detection

Immune response
TNFα	rs1800629 A>G	Upstream	None	Reduced expression	Taqman
TNFα	rs1800750 G>A	Upstream	None	Reduced expression	Taqman
FCGR2	rs1801274 C>T	Missense	A519C, R131H	Altered activity	Pyrosequencing
IL1A	rs1800587 C>T	Upstream	None	Increased expression	Taqman
IL1B	rs16944 G>A	Upstream	None	Altered expression	Taqman
IL4	rs2243248 T>G	Upstream	None	Altered expression	Cycling temperature denaturing electrophoresis
IL4	rs2243250C>T	Upstream	None	Altered expression	Sequenom MassARRAY iPLEX
IL4A	rs1801275 A>G	Missense	Q551R	Altered activity	Sequenom MassARRAY iPLEX
IL6	rs1800795 G>C	Upstream	None	Reduced expression	Taqman
IL10	rs1800890: T>A	Upstream	None	Lower expression?	Cycling temperature denaturing electrophoresis, PCR
IL10	rs1800896 G>A	Upstream	None	Lower expression>	RFLP Taqman, SSCP
IL10RA	rs2229113: A>G	Missense	G330R	Altered activity	PCR-RFLP
IL10RA	rs3135932 A>G	Missense	S159G	Altered activity	PCR-RFLP
IRF4A	rs872071 A>G	Upstream	None	Altered expression	Allele-Specific PCR
LTC4S	rs730012 A>C	Upstream	None	Altered expression	Taqman
CXCL12	rs1801157 G>A	Upstream	None	Altered expression	PCR-RFLP
TLR1	rs5743551 A>G	Upstream	None	Increased expression	PCR-RFLP
TLR2	rs4696480 T>A	Upstream	None	Altered expression	PCR-RFLP
TLR9	rs187084 T>C	Upstream	None	Altered expression	PCR-RFLP
TLR9	rs5743836 T>C	Upstream	None	Altered expression	PCR-RFLP

Carcinogen metabolism
GSTM1	Deletion	NA	NA	Abolishes activity	PCR-RFLP
GSTT1	Deletion	NA	NA	Abolishes activity	PCR-RFLP
GSTP1	rs1695 A>G	Missense	I105V	Decreased activity	Cycling temperature denaturing electrophoresis, PCR-RFLP
GSTA1	rs3957357 C>T	Upstream	None	Altered expression	Cycling temperature denaturing electrophoresis
EPHX	rs1051740 T>C	Missense	T113C	Altered activity	PCR-RFLP
EPHX	rs2234922 A>G	Missense	H139G	Altered activity	PCR-RFLP
CYP2C9	rs1057910 A>C	Missense	I359L	Altered activity	Taqman
CYP2C9	rs1799853 C>T	Missense	R144C	Altered activity	Taqman

DNA repair
XPA	rs1800975 G>A	Missense	A23G	Altered activity	Taqman
XPC	rs2228000 A>G	Missense	A499V	Altered activity	Sequenom MassARRAY IPLEX
XPC	rs2228001 A>G	Missense	K940Q	Altered activity	Taqman
XPF/ERCC1	rs3212986 C>A	Missense	Q504K	Altered activity	Taqman
XPG/ERCC5	rs17655 G>C	Missense	D1104H	Altered activity	Taqman
XRCC1	rs1799782 C>T	Missense	R194W	Altered activity	Sequenom MassARRAY iPLEX
XRCC3	rs861539 C>T	Missense	T241M	Altered activity	Taqman

Folate Metabolism
MTHFR	rs1801133 C>T	Missense	A222V	Decreased activity	Taqman, Melting curve analysis, PCR-RFLP
MTR	rs1805087 A>G	Missense	D919G	Reduced activity	Taqman

Others
COX2	rs5277 C>G	Missense	G102C	Altered activity	Taqman
	rs20417 G>C	Upstream	None	Decreased activity	Sequenom MassARRAY iPLEX, Taqman, Pyrosequencing
	rs689466 G>A	Upstream	None	Decreased activity	Sequenom MassARRAY iPLEX, Taqman, Pyrosequencing
ABCC2	rs17222723 T>A	Missense	V1188E	Altered activity	Cycling temperature denaturing electrophoresis
NBN	rs1801282 C>A	Missense	P12A	Altered activity	Sequenom MassARRAY iPLEX
TP53	rs1042522
NFKB1	rs3774937
NFKB1A	rs696
	rs8904
	rs1050851
	rs19571006
CHUK	rs2230804
PTGES	rs10448290
	rs2241270
	rs4837404
HPSE	rs4693608
	rs11099592
	rs436425
UGT1A1	NA	Tandem Repeats	None	Reduced promoter activity	PCR-RFLP, Sanger sequencing

AA, amino acid; NA, not applicable; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism;