• Title/Summary/Keyword: Gene susceptibility

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Genetic Variation in PDCD6 and Susceptibility to Lung Cancer

  • He, Yan-Qi;Zhou, Bin;Shi, Shao-Qing;Zhang, Lin;Li, Wei-Min
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.9
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    • pp.4689-4693
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    • 2012
  • Lung cancer is the most common type of cancer and one of the leading causes of death in the world. Genetic factors play an important role in its development. PDCD6, the encoding gene for programmed cell death protein 6, may function as a tumor suppressor gene. Non-small cell lung cancer (NSCLC) contributes about 80% to newly histologically diagnosed lung cancer patients. To explore the relationship between PDCD6 and NSCLC, we examined two single nucleotide polymorphisms(rs3756712 G/T andrs4957014 G/T, both in the intron region) of the PDCD6gene.A hospital-based case-control study was carried out including 302 unrelated NSCLC patients and 306 healthy unrelated subjects. Significantly increased NSCLC risk was found to be associated with the T allele of rs4957014 (P=0.027, OR=0.760, 95%CI=0.596-0.970). The genotype and allele frequencies of rs3756712 did not shown any significant difference between NSCLC group and controls (P=0.327, OR=0.879, 95%CI=0.679-1.137). In conclusion, we firstly demonstrated the association between the PDCD6 gene and risk of NSCLC in a Chinese Han population.

The Distribution of C298T Polymorphism in the Oseteocalcin Gene from Korean Male Athletes and its Association with Bone Mineral Density (한국인 남성 운동선수군에서 Osteocalcin 유전자의 C298T 다형성의 분포와 골밀도와의 관계)

  • Jung, In-Geun;Kang, Byung-Yong;Kim, Ji-Young;Oh, Sang-Duk;Ha, Nam-Joo
    • YAKHAK HOEJI
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    • v.50 no.1
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    • pp.26-32
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    • 2006
  • Osteocalcin is a vitamin K dependent and bone specific protein which plays an important role in the regulation of bone and calcium metabolism. In this study, we evaluated the relationship between the C298T polymorphism in the osteocalcin gene and bone mineral density (BMD) in Korean young men and their interaction with physical activity. BMDs of the femoral neck and lumbar spine were measured using dual energy X-ray absorptiometry, and the C298T polymorphism in the osteocalcin gene determined using polymerase chain reaction (PCR)-HindIII restriction fragment length polymorphism (RFLP) method. We did not observe any significant differences in the femoral neck and lumbar spine BMDs across genotypes of this polymorphism in controls, athletes or combined groups, respectively (P>0.05). Therefore, our data suggest that the C298T polymorphism in the osteocalcin gene is not a suitable genetic marker for the susceptibility to BMD.

No Association between PIK3CA Polymorphism and Lung Cancer Risk in the Korean Population

  • Sung, Jae-Sook;Park, Kyong-Hwa;Kim, Seung-Tae;Seo, Jae-Hong;Shin, Sang-Won;Kim, Jun-Suk;Kim, Yeul-Hong
    • Genomics & Informatics
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    • v.8 no.4
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    • pp.194-200
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    • 2010
  • The PIK3CA gene, oncogenic gene located on human chromosome 3q26.3, is an important regulator of cell proliferation, death, motility and invasion. To evaluate the role of PIK3CA gene in the risk of Korean lung cancer, genotypes of the PIK3CA polymorphisms (rs11709323, rs2699895, rs3729679, rs17849074 and rs1356413) were determined in 423 lung cancer patients and 443 normal controls. Statistical analyses revealed that the genotypes and haplotypes in the PIK3CA gene were not significantly associated with the risk of lung cancer in the Korean population, suggesting that these PIK3CA polymorphisms do not contribute to the genetic susceptibility to lung cancer in the Korean population.

Lack of Association of Common Polymorphisms in MUC1 Gene with H. pylori Infection and Non-cardia Gastric Cancer Risk in a Chinese Population

  • Zhang, Bin;Hao, Guang-Yu;Gao, Fang;Zhang, Jian-Zu;Zhou, Cheng-Jiang;Zhou, Li-She;Wang, Ying;Jia, Yan-Bin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.12
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    • pp.7355-7358
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    • 2013
  • Several lines of evidence support the notion that MUC1 is often aberrantly expressed in gastric cancer, and it is a ligand for Helicobacter pylori. Genetic variation in MUC1 gene may confer susceptibility to H. pylori infection and gastric cancer. We assessed the association of common polymorphisms in MUC1 gene with H. pylori infection and non-cardia gastric cancer using an LD-based tag SNP approach in north-western Chinese Han population. A total of four SNPs were successfully genotyped among 288 patients with non-cardia gastric cancer and 281 age- and sex-matched controls. None of the tested SNPs was associated with H. pylori infection. SNP rs9426886 was associated with a decreased risk of non-cardia gastric cancer, but lost significance after adjustment for multiple testing. Overall, our data indicated that common genetic variations in MUC1 gene might not make a major contribution to the risk of H. pylori infection and non-cardia gastric cancer in our studied population.

Naturally occurring reoviruses for human cancer therapy

  • Kim, Manbok
    • BMB Reports
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    • v.48 no.8
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    • pp.454-460
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    • 2015
  • Naturally occurring reoviruses are live replication-proficient viruses that specifically infect human cancer cells while sparing their normal counterpart. Since the discovery of reoviruses in 1950s, they have shown various degrees of safety and efficacy in pre-clinical or clinical applications for human anti-cancer therapeutics. I have recently discovered that cellular tumor suppressor genes are also important in determining reoviral tropism. Carcinogenesis is a multi-step process involving the accumulation of both oncogene and tumor suppressor gene abnormalities. Reoviruses can exploit abnormal cellular tumor suppressor signaling for their oncolytic specificity and efficacy. Many tumor suppressor genes such as p53, ataxia telangiectasia mutated (ATM), and retinoblastoma associated (RB) are known to play important roles in genomic fidelity/maintenance. Thus, a tumor suppressor gene abnormality could affect host genomic integrity and likely disrupt intact antiviral networks due to the accumulation of genetic defects which in turn could result in oncolytic reovirus susceptibility. This review outlines the discovery of oncolytic reovirus strains, recent progresses in elucidating the molecular connection between oncogene/tumor suppressor gene abnormalities and reoviral oncotropism, and their clinical implications. Future directions in the utility of reovirus virotherapy is also proposed in this review. [BMB Reports 2015; 48(8): 454-460]

Resistance to Potato Virus Y Conferred by PVY Replicase Gene Sequence in Transgenic Burley Tobacco (감자바이러스 Y 복제 유전자로 형질전환된 버어리종 연초의 PVY에 대한 저항성 특성)

  • Young Ho Kim;Eun Kyung Park;Soon Yong Chae;Sang Seock Kim;Kyung-Hee Paek;Hye Sun Cho
    • Journal of the Korean Society of Tobacco Science
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    • v.20 no.1
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    • pp.50-56
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    • 1998
  • The complementary DNA (cDNA) of potato virus Y- vein necrosis strain (PVY-VN) replicase gene (Nlb) was transformed into tobacco (Nicotiana tabacum cv. Burley 21) plants. Out of 25 putative transformants regenerated, 3 were resistant to PVY-VN, one highly resistant plant with no symptom until seed harvest time and the other two with mild chlorotic spot symptoms at late stages after infection. No symptom was observed in the highly resistant plant, while mild vein necrotic symptoms were developed on suckers of the moderately resistant plants after seed harvest time, In the first generation (T1) via self fertilization, resistance to susceptibility frequency in transgenic plants from the highly resistant transformant was about 3 : 1, while it was lowered much (about 1:2 and 1:19) in T1 of the moderately resistant transformants. In the second generation (T2) of the highly resistant plant, resistance frequencies were similar to T1, but resistance levels varied greatly and appeared to be decreased. Key words : potato virus Y, viral replicate gene, transgenic tobacco plants, resistance.

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Association of the Period3 Gene Polymorphism and Seasonal Variations in Mood and Behavior (Period3 유전자다형성과 기분 및 행동 계절성 변동의 연관성)

  • Lee, Heon-Jeong;Kang, Seung-Gul;Kim, Leen
    • Sleep Medicine and Psychophysiology
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    • v.13 no.1
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    • pp.22-26
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    • 2006
  • Circadian rhythms have been observed to be disturbed in mood disorders, especially seasonal affective disorder (SAD). Clock related gene variants also have been suggested to be associated with seasonality (seasonal variations in mood and behavior). This study tested the potential association between a length polymorphism of Period3 gene and seasonal variations in mood and behavior. 297 Korean college students were genotyped for the Period3 polymorphism and were for evaluated the seasonal variation by Seasonal Pattern Assessment Questionnaire (SPAQ). The genotype frequencies were 0.76 for 4R/4R, 0.22 for 4R/5R and 0.013 for 5R/5R. The global seasonality score was not different among Period3 gene variants (4R/4R, 4R/5R and 5R/5R) except for 'sleep length' subscore. The 5R/5R genotype showed the higher 'sleep length' subscore than others (p=0.024). The comparison between seasonals (syndromal plus subsyndromal SAD determined by SPAQ) and non-seasonals did not show any significant difference in frequencies of genotypes. These findings suggest that there is a possibility that the investigated Period3 polymorphism may play a partial role in the susceptibility of seasonal variations in a Korean population.

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Occurrence of Tn3 Sequence Upstream of aacC2 Gene in Gentamicin Resistance R Plasmids (Gentamicin 저항성 R 플라스미드에 존재하는 aacC2 유전자의 상류부위에서 Tn3의 출현)

  • 한효심;김남덕;이영종;이효연;정재성
    • Korean Journal of Microbiology
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    • v.33 no.3
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    • pp.165-169
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    • 1997
  • Two gentamicin resistance R plasmids, pGM5 and pGM6, containing aacC2 gene were selected from environmental isolates. The gentamicin resistance determinants of R plasmids were cloned into the BamHI site of pUC18. Restriction enzyme map of inserted region of recombinant plasmids, pSYS and pSY6, and PCR results indicated that Tn3 sequence was located upstream of gentamicin resistance gene. Based on the restriction maps and susceptibility tests, it was concluded that the sequence of bla and 3' inverted repeat of Tn3 play a important roles in the expression of gentamicin resistance gene.

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Association of the Genetic Polymorphisms for CD247 Gene and Tuberculosis Case

  • Ju, Yeongdon;Kim, Sung-Soo;Lee, Kyung Eun;Park, Sangjung;Jin, Hyunwoo
    • Biomedical Science Letters
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    • v.26 no.1
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    • pp.22-27
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    • 2020
  • Tuberculosis is airborne disease caused by Mycobacterium tuberculosis (MTB). Host genetic factors of these tuberculosis play an important role in determining individual difference in susceptibility or resistance to infectious diseases including tuberculosis. CD247 is named CD3zeta chain or CD3ζ. CD247 gene is a protein-coding gene involved in phagocytosis and signal transduction of the T cell receptor (TCR). Also, downregulation of the CD3ζ chain has been associated to chronic inflammation. The aim of this study was to research association of the genetic polymorphisms for CD247 gene and tuberculosis. We analyzed association of CD247 and Mycobacterium tuberculosis using 149 imputed single nucleotide polymorphisms (SNPs) with Korean population. And the results of this study show that seven SNPs of CD247 were identified to associate with tuberculosis. The most significant SNP was rs858545 (OR=1.22, CI: 1.05~1.42, P=0.009481). This study suggests that polymorphisms of CD247 may affect the T cell receptor signaling pathway, which may associate the infection of tuberculosis.

Eveluation of line probe assay in detecting rifampicin resistance of mycobacterium tuberculosis

  • Park, Young-Kil;Cho, Snag-Hyun;Kuk, Na-Byoung;Song, Chul-Yong;Bai, Gill-Han;Kim, Sang-Jae
    • Journal of Microbiology
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    • v.35 no.3
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    • pp.177-180
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    • 1997
  • The purpose of this study was to evaluate the efficiency of Line Probe Assay (LiPA) in detecting the rpoB gene mutation of clinically isolated Mycobacterium tuberculosis (MTB) and to compare the level of resistance to the various rifamycins with their mutation sites. The mutation in the rpoB gene was found in 84 (97.6%) out of 86 rifampicin (RMP) resistant strains as determined by LiPA. No mutation was observed in 2 RMP resistant strains and in any of 38 RMP susceptible strains tested. Only one of 3 strains with .DELTA.5/R5, one of 2 strains with .DELTA.3, and one of 3 strains with .DELTA.2/R2 LiPA profile showed a slightly lower level of resistance to the rifapentine than the other strains. Although we could not find correlations between mutation sites in the rpoB gene and the level of susceptibility to the various rifamycins, the LiPA is recommended as a fast screening tool for detection of RMP resistant MTB.

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