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Association of ERCC2 Gene Polymorphisms with Susceptibility to Diffuse Large B-Cell Lymphoma

Yong Tong, Yinzhou Xiang, Bao Li, Shijie Bao, Ying Zhou, Wen Yuan, Yu Ling, Dan Hao, Huamin Zhu, Zhiqiang Sun

Department of Hematology, Shenzhen Hospital, Southern Medical University, Shenzhen, Guangdong, China (mainland)

Med Sci Monit 2018; 24:7015-7022

DOI: 10.12659/MSM.908813

Available online:

Published: 2018-10-03

BACKGROUND: The objective of this study was to detect the association between ERCC excision repair 2, TFIIH core complex helicase subunit (ERCC2) gene polymorphisms and diffuse large B-cell lymphoma (DLBCL) susceptibility.
MATERIAL AND METHODS: This study used a case-control design. ERCC2 gene rs1799793 (Asp312Asn) and rs13181 (Lys751Gln) polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) both in DLBCL patients and healthy controls. The association between ERCC2 gene polymorphisms and DLBCL risk was assessed by χ² test. Odds ratios (ORs) with corresponding 95% confidence intervals (95% CIs) were used to address the association strength. Subgroup analyses were also performed to investigate the genetic effects of ERCC2 polymorphisms on clinical characteristics of DLBCL patients.
RESULTS: A significant association was discovered between the rs1799793 A allele and increased DLBCL risk (P=0.031, OR=1.928, 95% CI=1.052–3.534). The C allele of rs13181 was obviously associated with elevated DLBCL susceptibility (P=0.047, OR=1.820, 95% CI=1.002–3.305). The subgroup analysis demonstrated that rs1799793 and rs13181 polymorphisms had no relationship with serum lactate dehydrogenase level, nidus number, B-symptoms, Ann Arbor stages, or immunological types in DLBCL cases (P>0.05 for all).
CONCLUSIONS: Minor allele carriers of ERCC2 gene rs1799793 (Asp312Asn) and rs13181 (Lys751Gln) polymorphisms had higher susceptibility to DLBCL.

Keywords: Lymphoma, Large B-Cell, Diffuse, Polymorphism, Genetic, Xeroderma Pigmentosum Group D Protein