Association of Janus kinase 2 (<i>JAK2</i>) polymorphisms with acute leukemia susceptibility

Zhong, Yuan; Wu, Jianqiu; Ma, Rong; Cao, Hongyan; Wang, Z.; Ding, Jia-Hua; Lü, Cheng; Jiang, Feng; Chen, B.

doi:10.1111/j.1751-553x.2011.01386.x

Cited by 11 publications

(8 citation statements)

References 26 publications

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“…Our results showed that both the frequency of A allele in rs2230724 and G allele in rs1887427 were higher in patients with gastric cancer. The prevalence of A allele of rs2230724 was 45.2% in the control group, which was similar to another study in a Chinese population (44.0%) [29]. While the frequency of the G allele of rs1887427 was 12.9% in our control group, which was in the range of those in previous reports including the NCBI data (11.9% and 27.0% about Asian).…”

Section: Discussionsupporting

confidence: 90%

“…Recently, great advances were made in the understanding of the pathogenesis of the polymorphisms of JAK2 in patients with various diseases, including hematologic malignancies and Crohn's disease [21], [22], [23], [29]. For example, rs2230724, a new SNP of JAK2, was associated with the susceptibility of acute leukemia and its subtypes.…”

Section: Discussionmentioning

confidence: 99%

“…For example, rs2230724, a new SNP of JAK2, was associated with the susceptibility of acute leukemia and its subtypes. The A allele of rs2230724 was considered to be an important genetic determinant for acute leukemia and acute myeloid leukemia [29]. Moreover, Lee et al [30] found that JAK2 SNP rs1887427 played major roles in prognosis and 13-cis-retinoic acid (13-cRA) response in patients with head and neck cancer.…”

Section: Discussionmentioning

confidence: 99%

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Janus Kinase 2 Polymorphisms Are Associated with Risk in Patients with Gastric Cancer in a Chinese Population

et al. 2013

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AimTo evaluate the impact of the Janus kinase 2 single nucleotide polymorphisms (SNPs) on gastric cancer risk.MethodsIn this hospital-based, case–control study, the genotypes were identified by polymerase chain reaction–restriction fragment length polymorphism protocols in 661 individuals (359 gastric cancer patients and 302 age and sex matched cancer-free controls).ResultsBoth the frequency of A allele in rs2230724 and G allele in rs1887427 were more frequent in patients with gastric cancer (P = 0.013 and 0.001, respectively). Compared with the common genotype, subjects with the (AG+AA) genotypes of rs2230724 and the (AG+GG) genotypes of rs1887427 had a 59% and 98% increased risk of developing gastric cancer, respectively (P = 0.010, adjusted OR = 1.59, 95% CI = 1.12–2.27; P<0.001, adjusted OR = 1.98, 95% CI = 1.39–2.81, respectively). Further stratified analysis showed that the association between the risk of gastric cancer and the rare genotypes of rs2230724 were more profound in the subgroups of elder individuals (>56 years), males, nonsmokers and urban subjects, while the association between the risk and the rare genotypes of rs1887427 persisted in subgroups of younger individuals (≤56 years), males, nonsmokers and both of rural and urban subjects.ConclusionThe JAK2 gene rs2230724 and rs1887427 polymorphisms are associated with an increased risk of gastric cancer in a Chinese Han population.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Janus Kinase 2 Polymorphisms Are Associated with Risk in Patients with Gastric Cancer in a Chinese Population

et al. 2013

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“…; Zhong et al . ). An important mutation in JAK2 (V617F) was described to be associated with a variety of leukemia and neoplasms (Olcaydu et al .…”

Section: Discussionmentioning

confidence: 97%

Association study of single nucleotide polymorphisms inJAK2andSTAT5Bgenes and their differential mRNA expression with mastitis susceptibility in Chinese Holstein cattle

et al. 2015

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The JAK-STAT pathway plays a key role in mediating immune responses. The genetic effects of single nucleotide polymorphisms (SNPs) in JAK2 and STAT5B were investigated for serum cytokines, mastitis indicators and productions traits in a population of 468 Chinese Holstein cattle. Pooled DNA sequencing revealed one SNP (BTA8:g.39645396A>G) in JAK2 and two SNPs (BTA19:g.43673888A>G and BTA19:g.43660093T>C) in STAT5B. A fixed effect model considering the effects of SNPs, parity, herd, season and year of calving was used by way of the general linear model procedure of sas. Genotype frequencies of these SNPs in the population were in Hardy-Weinberg equilibrium (P > 0.05). A novel SNP (g.39645396A>G) in JAK2 was predicted to change the amino acid from lysine to asparagine and was significantly associated with the somatic cell count (SCC) and somatic cell score (SCS), whereas g.43673888A>G in STAT5B was significantly associated with SCC, SCS and interleukin-4 (IL-4) (P < 0.05). The dominant effect of g.39645396A>G in JAK2 was significant for SCS, and its additive effect was significant for SCC, whereas the dominant effect of g.43673888A>G in STAT5B was significant for SCS and IL-4 (P < 0.05). The combination of g.39645396A>G in JAK2 and g.43673888A>G in STAT5B showed a significant effect on SCC, SCS, IL-4 and TNF-α (P < 0.05). As for mRNA expression analysis, the AA genotype g.39645396A>G and GG genotype g.43673888A>G indicated higher mRNA expression level and were significantly different from other genotypes (P < 0.05). The results imply that JAK2 and STAT5B genes could be useful candidate genes, and the identified polymorphisms might potentially be strong genetic markers for selection of dairy cattle against mastitis development.

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“…We have detected a novel SNP, rs56118985, associated with breast cancer risk via an additive model in a Singaporean Chinese population. Rs56118985 has been reported to be associated with acute leukemia and acute myeloid leukemia in a single study done in Chinese (28). No other association or functional studies have been done on rs56118985.…”

Section: Discussionmentioning

confidence: 99%

Identification of Novel Breast Cancer Risk Loci

et al. 2017

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It has been estimated that >1,000 genetic loci have yet to be identified for breast cancer risk. Here we report the first study utilizing targeted next-generation sequencing to identify single-nucleotide polymorphisms (SNP) associated with breast cancer risk. Targeted sequencing of 283 genes was performed in 240 women with early-onset breast cancer (≤40 years) or a family history of breast and/or ovarian cancer. Common coding variants with minor allele frequencies (MAF) >1% that were identified were presumed initially to be SNPs, but further database inspections revealed variants had MAF of ≤1% in the general population. Through prioritization and stringent selection criteria, we selected 24 SNPs for further genotyping in 1,516 breast cancer cases and 1,189 noncancer controls. Overall, we identified the SNP rs56118985 to be significantly associated with overall breast cancer risk. Subtype analysis performed for patient subgroups defined by ER, PR, and HER2 status suggested additional associations of the SNP rs200504060 and the SNP rs142179458 with breast cancer risk. analysis indicated that coding amino acids encoded at these three SNP sites were conserved evolutionarily and associated with decreased protein stability, suggesting a likely impact on protein function. Our results offer proof of concept for identifying novel cancer risk loci from next-generation sequencing data, with iterative data analysis from targeted, whole-exome, or whole-genome sequencing a wellspring to identify new SNPs associated with cancer risk. .

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Association of Janus kinase 2 (JAK2) polymorphisms with acute leukemia susceptibility

Abstract: The results indicate that the risk of acute leukemia might be associated with JAK2 polymorphisms.

Cited by 11 publications

References 26 publications

Janus Kinase 2 Polymorphisms Are Associated with Risk in Patients with Gastric Cancer in a Chinese Population

Janus Kinase 2 Polymorphisms Are Associated with Risk in Patients with Gastric Cancer in a Chinese Population

Association study of single nucleotide polymorphisms inJAK2andSTAT5Bgenes and their differential mRNA expression with mastitis susceptibility in Chinese Holstein cattle

Identification of Novel Breast Cancer Risk Loci

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