Cancer Res Treat.  2011 Jun;43(2):108-116.

An Association Study of Polymorphisms in JAK3 Gene with Lung Cancer in the Korean Population

• Yoo W
• Jung HY
• Lim S
• Sung JS
• Park KH
• Ryu JS
• Shin SW
• Kim JS
• Seo JH
• Kim YH

Abstract

PURPOSE
The genetic alteration of the janus kinases (JAKs), non-receptor tyrosine kinase, is related to the development of human cancers. However, little is known about how the sequence variation of JAK3 contributes to the development of lung cancer. This study investigated whether polymorphisms at the promoter region of the JAK3 gene are associated with the risk of lung cancer in the Korean population.
MATERIALS AND METHODS
A total of 819 subjects, including 409 lung cancer patients and 410 healthy controls were recruited. The SNaPshot assay and polymerase chain reaction-restriction fragment length polymorphism analysis were used, and logistic regression analyses were performed to characterize the association between polymorphisms of JAK3 and lung cancer risk.
RESULTS
Three polymorphisms (-672 G>A, +64 A>G and +227 G>A) of JAK3 were analyzed for large-scale genotyping (n=819). Statistical analyses revealed that polymorphisms and haplotypes in the JAK3 gene were not significantly associated with lung cancer.
CONCLUSION
JAK3 gene was not significantly associated with the risk of lung cancer in the Korean population.

Keyword

Janus kinase 3; Lung cancer; Polymorphism; Haplotypes; Korea

MeSH Terms

Haplotypes
Humans
Janus Kinase 3
Janus Kinases
Korea
Logistic Models
Lung
Lung Neoplasms
Promoter Regions, Genetic
Protein-Tyrosine Kinases
Janus Kinase 3
Janus Kinases
Protein-Tyrosine Kinases

Figure

• 

  Fig. 1 Map of polymorphisms, haplotypes, and linkage disequilibrium (LD) coefficients in janus tyrosine kinase3 (JAK3) gene. (A) The location of 8 polymorphisms in the JAK3 gene on chromosome 19p13.1. Asterisks indicated polymorphisms that were genotyped in a larger population. The frequencies of polymorphisms were based on sequencing data (n=24). The first base of the translation site was denoted as nucleotide +1. (B) Haplotypes of the promoter region in JAK3 gene. (C) Linkage disequilibrium coefficient (|D'|) among JAK3 gene. Two polymorphisms, including +64 A>G and +227 G>A were used for construction of haplotype. The LD between the polymorphisms was quantified using the Haploview program ver. 3.2.

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