• Title/Summary/Keyword: Variants

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Prevalence of Human Papillomavirus Types and Phylogenetic Analysis of HPV-16 L1 Variants from Southern India

  • Kabekkodu, Shama Prasada;Bhat, Samatha;Pandey, Deeksha;Varghese, Vinay Koshy;Shukla, Vaibhav;Ghosh, Supriti;Kushtagi, Pralhad;Bhat, Parvati;Gopinath, Puthiya Mundayat;Satyamoorthy, Kapaettu
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.5
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    • pp.2073-2080
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    • 2015
  • Background: The human papillomavirus (HPV) and its variants show wide geographical distribution and have been reported to cause cervical lesions. With cervical neoplasia as the leading cancer in Indian women, the aim of the present study was to evaluate the multiple infection HPV type distribution and variant genotypes in cervical samples from the coastal Karnataka region, India. Materials and Methods: A total of 212 samples were screened by nested polymerase chain reaction using PGMY9/11 and GP5+/6+ primers. HPV positive samples were sequenced to identify the types and a phylogenetic tree was constructed using the neighbor-joining method. Results: Sequence analysis identified a total of 14 HPV types distributed in 20%, 73.3% and 82.5% of non-malignant, pre-malignant [low grade squamous intraepithelial lesion (LSIL) and high grade squamous intraepithelial lesion (HSIL)] and cervical cancer samples. The distribution of high risk HPV in cancer samples was HPV 16, 76.4%, HPV18, 11.7%, HPV81, 2.9%, HPV31, 1.4%, HPV35, 1.4% and HPV 45, 1.4%. Multiple infections were observed in 11.8% of tumor samples with HPV 16 contributing to 62.5% of cases. In non-malignant samples, 20% of HPV positive samples were detected with HPV16, 82.3%, HPV33, 5.8% and HPV58, 5.8% and very low incidence of multiple infections. Comparative phylogenetic analysis of HPV variants identified 9 HPV sequences as new papillomavirus species, predominantly classified as European lineage type. Conclusions: The findings for HPV infections associated with progression of cervical cancer in coastal Karnataka region and HPV variant analysis provide baseline data for prevention and HPV vaccination programs.

Effect of Genetic Predisposition on Blood Lipid Traits Using Cumulative Risk Assessment in the Korean Population

  • Go, Min-Jin;Hwang, Joo-Yeon;Kim, Dong-Joon;Lee, Hye-Ja;Jang, Han-Byul;Park, Kyung-Hee;Song, Ji-Hyun;Lee, Jong-Young
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.99-105
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    • 2012
  • Dyslipidemia, mainly characterized by high triglyceride (TG) and low high-density lipoprotein cholesterol (HDL-C) levels, is an important etiological factor in the development of cardiovascular disease (CVD). Considering the relationship between childhood obesity and CVD risk, it would be worthwhile to evaluate whether previously identified lipid-related variants in adult subjects are associated with lipid variations in a childhood obesity study (n = 482). In an association analysis for 16 genome-wide association study (GWAS)-based candidate loci, we confirmed significant associations of a genetic predisposition to lipoprotein concentrations in a childhood obesity study. Having two loci (rs10503669 at LPL and rs16940212 at LIPC) that showed the strongest association with blood levels of TG and HDL-C, we calculated a genetic risk score (GRS), representing the sum of the risk alleles. It has been observed that increasing GRS is significantly associated with decreased HDL-C (effect size, $-1.13{\pm}0.07$) compared to single nucleotide polymorphism combinations without two risk variants. In addition, a positive correlation was observed between allelic dosage score and risk allele (rs10503669 at LPL) on high TG levels (effect size, $10.89{\pm}0.84$). These two loci yielded consistent associations in our previous meta-analysis. Taken together, our findings demonstrate that the genetic architecture of circulating lipid levels (TG and HDL-C) overlap to a large extent in childhood as well as in adulthood. Post-GWAS functional characterization of these variants is further required to elucidate their pathophysiological roles and biological mechanisms.

Molecular Cloning of Glycoside Hydrolase Family 74 Genes and Analysis of Transcript Products from the Basidiomycete Phanerochaete chrysosporium (담자균 Phanerochaete chrysosporium으로부터 유래한 Glycoside Hydrolase Family 74 유전자 클로닝과 전사산물 분석)

  • Lee, Jae-Won;Samejima, Masahiro;Choi, In-Gyu
    • Journal of the Korean Wood Science and Technology
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    • v.34 no.3
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    • pp.56-63
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    • 2006
  • In order to evaluate the mechanism of cellulose hydrolysis, the complementary DNA encoding Glycoside Hydrolase Family (GHF)74 was cloned from Phanerochaete chrysosporium. Depending on the presence of Cellulose Binding Module (CBM), it can be classified as GHF74A or GHF74B. The GHF74A gene from P. chrysosporium (PcGHF74A) consists of 2163 bp encoding a protein of 721 amino acid residues. The PcGHF74A showed homology of 70~77% compared with the GHF74 from other filamentous fungi. The PcGHF74B, which contains CBM and is a member of family 1, was transcribed to various transcripts depending on the nature of carbon sources and their concentration. To study the possible presence of splice variants in GHF74B transcripts in P. chrysospoium, we carried out RT-PCR analysis using primers that designed based on the annotation data and sequenced data. Our result indicated that PcGHF74B was transcribed to several splicing variants in various culture conditions. Especially in the culture of 2% cellulose, three transcript products were observed. First transcript was presumed to be a full length ORF that contained 11th intron with stop codon at position 2562 bp. The second one consisted of 12 exons and 11 introns with stop codon at position 1187 bp with 7th exon. The shortest transcript consisted of 10 exons and 9 introns with stop codon at 910 bp in the 7th exon. These premature stop codon might prevent the synthesis of fully active GHF74 or contribute for the production of protein with distinct function depending on the ambient carbon sources.

Effects of Castration on Androgen Receptor, IGF-I Ea, MGF and Myostatin Gene Expression in Skeletal Muscles of Male Pigs

  • Yao, Yuchang;Cai, Zhaowei;Zhang, Lifan;Zhao, Chunjiang;Wu, Keliang;Xu, Ningying;Liu, Gang;Wu, Changxin
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.8
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    • pp.1069-1077
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    • 2009
  • Castration of male pig produces significant negative effects on skeletal muscle development. The androgen receptor (AR), two splice variants of insulin-like growth factor-I (IGF-I Ea and MGF) and the myostatin gene may play important roles in this process. In the present study, the expression of AR, IGF-I Ea, MGF and myostatin genes in three skeletal muscles, the brachialis, longissimus and semitendinosus, were studied using real-time quantitative RT-PCR. Our experimental design used 14 pairs of male Landrace sire${\times}$Yorkshire dam piglets. The two piglets in each pair were full sibs, one of which was castrated at 21 d of age; the other remained intact. The study group was divided into subgroups of equal size. Animals in the first subgroup were slaughtered at 147 d and those of the second at 210 d of age. Carcass weight and lean meat yield were similar between boars and barrows at 147 d of age (p>0.05), whereas barrows had lower carcass weight and less lean meat yield at 210 d of age (p<0.05). Castration caused down-regulation of AR gene expression at both 147 and 210 d of age (p<0.05). The two splice variants of the IGF-I gene from porcine skeletal muscle were cloned using RT-PCR, and it was found that MGF differs from IGF-I Ea in having a 52-base insert in the last coding exon of the mRNA. Both splice variants were down-regulated by castration only at 210 d of age (p<0.05). No differences in expression of the myostatin gene were observed between boars and barrows at either 147 or 210 d of age (p>0.05). These results suggest that the downregulation of AR, IGF-I Ea and MGF gene expression following castration helps to explain the negative effect of castration on skeletal muscle development.

Genetic Variants at 6p21.1 and 7p15.3 Identified by GWASs of Multiple Cancers and Ovarian Cancer Risk: a Case-control Study in Han Chinese Women

  • Li, Da-Ke;Han, Jing;Liu, Ji-Bin;Jin, Guang-Fu;Qu, Jun-Wei;Zhu, Meng;Wang, Yan-Ru;Jiang, Jie;Ma, Hong-Xia
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.1
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    • pp.123-127
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    • 2014
  • A recent study summarized several published genome-wide association studies (GWASs) of cancer and reported two pleiotropic loci at 6p21.1 and 7p15.3 contributing to multiple cancers including lung cancer, noncardia gastric cancer (NCGC), and esophageal squamous-cell carcinoma (ESCC) in Han Chinese. However, it is not known whether such genetic variants have similar effects on the risk of gynecologic cancers, such as ovarian cancer. Hence, we explored associations between genetic variants in 6p21.1 and 7p15.3 and ovarian cancer risk in Han Chinese women. We performed an independent case-control study by genotyping the two loci (rs2494938 A > G at 6p21.1 and rs2285947 A > G at 7p15.3) in a total of 377 ovarian cancer cases and 1,034 cancer-free controls using TaqMan allelic discrimination assay. We found that rs2285947 at 7p15.3 was significantly associated with risk of ovarian cancer with per allele odds ratio (OR) of 1.33 [95% confidence interval (CI): 1.08-1.64, P=0.008]. However, no significant association was observed between rs2494938 and ovarian cancer risk. Our results showed that rs2285947 at 7p15.3 may also contribute to the development of ovarian cancer in Han Chinese women, further suggesting pleiotropy of 7p15.3 in multiple cancers.

Association of Poly (ADP-Ribose) Polymerase 1 Variants with Oral Squamous Cell Carcinoma Susceptibility in a South Indian Population

  • Anil, Sukumaran;Gopikrishnan, PB;Basheer, Ashik Bin;Vidyullatha, BG;Alogaibi, Yahya A;Chalisserry, Elna P;Javed, Fawad;Dalati, MHN;Vellappally, Sajith;Hashem, Mohamed Ibrahim;Divakar, Darshan Devang
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.8
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    • pp.4107-4111
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    • 2016
  • Background: Oral cancers account for approximately 2% of all cancers diagnosed each year; however, the vast majority (80%) of the affected individuals are smokers whose risk of developing a lesion is five to nine times greater than that of non-smokers. Tobacco smoke contains numerous carcinogens that cause DNA damage, including oxidative lesions that are removed effectively by the base-excision repair (BER) pathway, in which poly (ADP-ribose) polymerase 1 (PARP-1), plays key roles. Genetic variations in the genes encoding DNA repair enzymes may alter their functions. Several studies reported mixed effects on the association between PARP-1 variants and the risk of cancer development. Till now no reported studies have investigated the association between PARP-1 variants and oral squamous cell carcinoma (OSCC) risk in an Indian population. Materials and Methods: In the present case control study 100 OSCC patients and 100 matched controls were genotyped using PARP1 single nucleotide peptides (SNP's) rs1136410 and rs3219090 using TaqMan assays. Results: The results indicated significantly higher risk with PARP1 rs1136410 minor allele "C" (OR=1.909; p=0.02942; CI, 1.060-3.439). SNP rs1136410 also showed significantly increased risk in patients with smoking habit at C/C genotype and at minor allele C. Conclusions: The PAPR-1 Ala762Val polymorphism may play a role in progression of OSCC. Larger studies with a greater number of samples are needed to verify these findings.

Uncoupling Protein 3 in the Rainbow Trout, Oncorhynchus mykiss Sequence, Splicing Variants, and Association with the AvaIII SINE element

  • Kim, Soon-Hag;Choi, Cheol-Young;Hwang, Joo-Yeon;Kim, Young-Youl;Park, Chan;Oh, Berm-Seok;Kimm, Ku-Chan;Scott A. Gahr;Sohn, Young-Chang
    • Journal of Aquaculture
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    • v.17 no.1
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    • pp.1-7
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    • 2004
  • A rainbow trout uncoupling protein 3 (UCP3) cDNA clone, encoding a 310 amino acid protein, was cloned and sequenced from a liver cDNA library. Two different splice variants designated UCP3-vl and UCP3-v2, were identified through liver cDNA library screening using rainbow trout UCP3 cDNA clone as a probe. UCP3-vl has 3 insertions in the UCP3 cDNA: the first insertion (133 bp), the second (141 bp), and the third (370 bp) were located 126 bp, 334 bp and 532 bp downstream from the start codon, respectively. UCP3-v2 contained a single insertion, identical in sequence and location to the second insertion of UCP3-vl. UCP3, a mitochondrial protein, functions to modulate the efficiency of oxidative phosphorylation. UCP3 has been detected from heart, testis, spinal cord, eye, retina, colon, muscle, brown adipose tissue and white adipose tissue in mammalian animals. Human and rodent UCP3s are highly expressed in skeletal muscle and brown adipose tissue, while they show weak expression of UCP3 in heart and white adipose tissue. In contrast to mammalian studies, RT-PCR and Southern blot analysis of the rainbow trout demonstrated that UCP3 is strongly expressed in liver and heart. UCP3, UCP3-vl, and UCP3-v2 all contain an Ava III short interspersed element (SINE), located in the 3'untraslated region (UTR). PCR using primers from the Ava III SINE and the UCP3 3'UTR region indicates that the UCP3 cDNA is structurally conserved among salmonids and that these primers may be useful for salmonid species genotyping.

Alterations of Human Autonomic Nervous System Activity on Capsaicin Ingestion, and Variants of UCP1 and β3- -adrenergic Receptor Polymorphism (캡사이신 섭취와 UCP1 과 β3- adrenergic Receptor Polymorphism의 다양성에 대한 자율신경활동의 변화)

  • Ko, Ki-Jun;Shin, Ki-Ok
    • Journal of Life Science
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    • v.17 no.8 s.88
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    • pp.1075-1081
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    • 2007
  • We investigated whether 1) capsaicin ingestion (100 mg) enhances autonomic nervous system (ANS) activities associated with thermogenic sympathetic activity as energy metabolic modulator, 2) UCP1 and ${\beta}_{3}$-AR variants of each subjects influence with ANS activity. Eight healthy males (24.7 ${\pm}$ 1.8 yr) volunteered for this study. The cardiac autonomic nervous activities evaluated by means of heart rate variability of power spectral analysis and energy metabolism were continuously measured during 5-min rest for total 90-min resting condition with placebo or capsaicin oral administration chosen at random. The results indicated that there were no significant differences in heart rate during rest between both trials. Autonomic nervous activity increased in capsaicin tablet trial, but the difference did not reach the statistical significance. Capsaicin, however, induced significantly lower respiratory gas exchange ratio at Test3 (CAP: 0.80 ${\pm}$ 0.02 vs. 0.85 ${\pm}$ 0.02), means ${\pm}$ SE, p<0.05). In conclusion, it may be suggested the capsaicin consumption as a valuable supplement for the treatment of individual with hyperlipidemia and/or obesity by improving lipolysis. Further studies will also be considered genetic variants such as UCP1 and/or ${\beta}_{3}$-AR associated with obesity.

Variants on ESR1 and their Association with Prostate Cancer Risk: A Meta-analysis

  • Ding, Xiang;Cui, Feng-Mei;Xu, Song-Tao;Pu, Jin-Xian;Huang, Yu-Hua;Zhang, Jiang-Lei;Wei, Xue-Dong;Hou, Jian-Quan;Yan, Chun-Yin
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.8
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    • pp.3931-3936
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    • 2012
  • Background: Epidemiological studies evaluating the association of two variants rs9340799 and rs2234693 on estrogen receptor 1 (ESR1) with prostate risk have generated inconsistent results. Methods: A meta-analysis was here conducted to systematically evaluate the relationship of these two variants with prostate cancer susceptibility. Results: For rs9340799, heterozygosity of T/C carriers showed a significant increased prostate cancer risk with a pooled odds ratio (OR) of 1.34 (95% CI = 1.06-1.69) while homozygote C/C carriers showed an increased but not statistically significant association with prostate cancer risk (pooled OR = 1.29, 95% CI = 0.94-1.79). Compared to the homozygous TT carriers, the allele C carriers showed a 31% increased risk for prostate cancer (pooled OR = 1.31, 95% CI = 1.06-1.63). No significant association between the rs2234693 and prostate cancer risk was found with the pooled OR of 1.15 (95% CI = 0.97-1.39, T/C and C/C vs. T/T) under the dominant genetic model. Compared to the homozygote T/T carriers, the heterozygous T/C carriers did not show any significantly different risk of prostate cancer (pooled OR = 1.13, 95% CI = 0.94-1.36) and the homozygous C/C carriers also did not show a significant change for prostate cancer risk compared to the wide-type T/T carriers (pooled OR = 1.26, 95% CI = 0.98-1.62). Conclusion: These data suggested that variant rs9340799, but not rs2234693, on ESR1 confers an elevated risk of prostate cancer.

Congestion Control Algorithms Evaluation of TCP Linux Variants in Dumbbell (덤벨 네트워크에서 TCP 리눅스 변종의 혼잡 제어 알고리즘 평가)

  • Mateen, Ahamed;Zaman, Muhanmmad
    • The Journal of the Institute of Internet, Broadcasting and Communication
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    • v.16 no.1
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    • pp.139-145
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    • 2016
  • Dumbbell is the most basic topology that can be used in almost all kind of network experiment within it or just by little expansion. While Transmission Control Protocol TCP is the basic protocol that is used for the connectivity among networks and stations. TCP major and basic goal is to provide path and services to different applications for communication. For that reason TCP has to transfer a lot of data through a communication medium that cause serious congestion problem. To calculate the congestion problem, different kind of pre-cure solutions are developer which are Loss Based Variant and Delay Based Variant. While LBV keep track of the data that is going to be passed through TCP protocol, if the data packets start dropping that means congestion occurrence which notify as a symptom, TCP CUBIC use LBV for notifying the loss. Similarly the DBV work with the acknowledgment procedure that is used in when data ACK get late with respect to its set data rate time, TCP COMPOUND/VAGAS are examples of DBV. Many algorithms have been purposed to control the congestion in different TCP variants but the loss of data packets did not completely controlled. In this paper, the congestion control algorithms are implemented and corresponding results are analyzed in Dumbbell topology, it is typically used to analyze the TCP traffic flows. Fairness of throughput is evaluated for different TCP variants using network simulator (NS-2).