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Background： Breast cancer is the most common type of cancer among females. Genetic polymorphisms might have a role in carcinogencsis. The aim of this study was to determine whether C to T base substitution within Taql Vitamin D receptor （VDR） gene （rs731236） in exon 9 was a risk factor among patients with breast cancer. Methods： Peripheral blood was drawn from 122 Jordanian breast cancer patients and 100 healthy Jordanian volunteers in Al-Bashecr Hospital during the summer months （from June to November of 2013, 2014, and 2015）. DNA was amplified using polymerase chain reaction （PCR）, followed by Taql restriction enzyme digestion. Quantification of serum 25-hydroxy Vitamin D （25[OH]D） level was determined by competitive immunoassay Elecsys. Results： Genotypic frequencies for Taql TT, Tt, and tt genotypes were 41%, 46%, and 13% for breast cancer compared to 42%, 50%. and 8% for control, respectively. Vitamin D serum level was significantly lower in the breast cancer patients （8.1 ± 0.3 ng/ml） compared to the control group （21.2± 0.6 ng/ml; P =0.001）. This study showed an inverse association between 25（OH）D serum level and brcasl cancer risk （odds ratio [OR], 22.72, 95% confidence interval [C/], 10.06 51.29）. Conclusions： An inverse association was found between 25（OH）D serum level and breast cancer risk. Statistical difference was also found between different VDR Taql genotypes and circulating levels of 25（OH）D among Jordanian females with breast cancer.

It has been postulated that the persistent short intravaginal ejaculation latency time （IELT） of men with lifelong premature ejaculation （LPE） is related to 5-hydroxytryptamine （HT）2c receptor functioning. The aim of this study was to investigate the relationship of Cys23Ser 5-HT2c receptor gene polymorphism and the duration of IELT in men with LPE. Therefore, a prospective study was conducted in 64 Dutch Caucasian men with LPE. Baseline IELT during coitus was assessed by stopwatch over a 1-month period. All men were genotyped for Cys23Ser 5-HT2c receptor gene polymorphism. Allele frequencies and genotypes of Cys and Ser variants of 5-HT2c receptor gene polymorphism were determined. Association between Cys/Cys and Ser/Ser genotypes and the natural logarithm of the IELT in men with LPE were.investigated. As a result, the geometric mean, median and natural mean IELT were 25.2, 27.0, 33.9s, respectively. Of all men, 20.0%, 10.8%, 23.1% and 41.5% ejaculated within 10, 10-20, 20-30 and 30-60s after vaginal penetration. Of the 64 men, the Cys/Cys and Ser/Ser genotype frequency for the Cys23Ser polymorphism of the 5-HT2c receptor gene was 81% and 19%, respectively. The geometric mean IELT of the wildtypes （Cys/Cys） is significantly lower （22.6s; 95% CI 18.3-27.8s） than in male homozygous mutants （Ser/Ser） （40.4s; 95% CI 20.3-80.4s） （P = 0.03）. It is concluded that Cys23Ser 5-HT2c receptor gene polymorphism is associated with the IELT in men with LPE. Men with Cys/Cys genotype have shorter IELTs than men with Ser/Ser genotypes.

Aim： Adiponectin has been implicated in the development of chronic obstructive pulmonary disease （COPD）. The CDH13 gene encodes T-cadherin that is an adiponectin receptor, and genetic variants of CDH13 determine blood adiponectin levels. The aim of this study was to investigate the effects of CDH13 variants on COPD susceptibility in a Chinese population. Methods： Ten single-nucleotide polymorphisms （SNP） in CDH13 were screened using the SNaPshot method in 279 COPD patients and 367 control subjects. Association of genotypes or haplotypes constructed from these loci with COPD was analyzed in different genetic models.Results： Among the 10 SNPs tested, rs4783244 and rs12922394 exhibited significant differences in allele or genotype frequencies between COPD patients and control subjects, whereas 8 other SNPs did not. The minor allele T was associated with decreased risk of COPD in the recessive model at rs4783244 （0R=0.42, P=0.023） and in the dominant model at rs12922394 （OR=O.70, P=0.022）. The genotype TT at either rs4783244 or rs12922394 was associated with a significantly low level of plasma adiponectin when compared to genotypes GG and CC （P〈O.05）. Haplotypes GC in block 1 （rs4783244-rs12922394） as well as GTAC and ATGT in block 3 （rs4783266-rs11640522-rs11646849-rs11860282） significantly increased the risk of COPD, whereas haplotypes TT in block 1, TG in block 2 （rs11646011- rs11640875） and ATGC in block 3 were protective against COPD. Conclusion： CDH13 genetic variants determine Chinese individuals＇ susceptibility to COPD and thus are efficient genetic biomarkers for early detection of COPD.

Background： Proteasome subunits （PSMB） and transporter associated with antigen processing （TAP） loci are located in the human leukocyte antigen （HLA） Class I1 region play important roles in immune response and protein degradation in neurodegenerative diseases. This study aimed to explore the association between single nucleotide polymorphisms （SNPs） of PSMB and TAP and Parkinson＇s disease （PD）. Methods： A case-control study was conducted by genotyping SNPs in PSMB8, PSMBg, TAP1, and TAP2 genes in the Chinese population. Subjects included 542 sporadic patients with PD and 674 healthy controls. Nine identified SNPs in PSMB8, PSMBg, TAP1, and TAP2 were genotyped through SNaPshot testing. Results： The stratified analysis ofrs 17587 was specially performed on gender. Data revealed that female patients carry a higher frequency of rsl7587-G/G versus （A/A ＋ G/A） compared with controls. But there was no significant difference with respect to the genotypic frequencies of the SNPs in PSMB8, TAP1, and TAP2 loci in PD patients. Conclusion： Chinese females carrying the rs 17587-G/G genotype in PSMB9 may increase a higher risk for PD, but no linkage was found between other SNPs in HLA Class II region and PD.

We analyzed the allelic and genotypic frequencies of the glutathione-S-transferase P1 （GSTPI） rs1695 single nucleotide polymorphism （SNP） in 290 patients with multiple sclerosis （MS） and in 310 healthy controls. We found no significant association between the rs1695 variant and MS. Among MS patients, there was no relationship between the rs1695 variant and either gender, clinical type of MS or the age of onset of MS.

Aim： To investigate the relationship of fibroblast growth factor receptor 4 （FGFR4） gene polymorphisms with the response of Chinese patients with non-small cell lung cancer （NSCLC） to chemotherapy. Methods： A total of 629 patients with Stage III （A＋B） or IV NSCLC, as well as 729 age- and gender-matched healthy controls were recruited. All the patients received platinum-based chemotherapy, and the therapeutic effects were evaluated. Three polymorphisms in the FGFR4 gene （rs351855G/A, rs145302848C/G, and rs147603016G/A） were genotyped, and the association between the 3 polymorphisms and the chemotherapy effect was analyzed using SPSS software, version 16.0. Results： The genotype frequencies of rs145302848C/G and rs147603016G/A were not significantly different between NSCLC patients and healthy controls on one hand, and between the responders and non-responders to the chemotherapy on the other hand. The distribution of AA genotype and A-allele of rs351855G/A was significantly lower in NSCLC patients than in healthy controls. Using patients with the GG genotype as a reference, the AA carrier had a significantly reduced risk for the development of NSCLC after normalizing to age, sex and smoking habits. In NSCLC patients, this genotype occurred more frequently in the responders to the chemotherapy than in non-responders. The chance of being a responder was significantly increased with the AA genotype as com- pared to G genotype. The AA genotype of rs351855G/A had a better prognosis compared with GA and GG genotype carriers： the over- all survival of patients with the AA genotype of rs351855G/A was significantly longer than those with the GG＋GA genotype （21.1 vs 16.5 months）. Conclusion： The rs351855G/A polymorphisms of FGFR4 gene can be used to predict the occurrence, chemotherapy response and prognosis of NSCLC.

In order to promote marker-assisted selection of Tan sheep, the polymorphism of OB gene in zan sheep was detected by sequencing and PCR-RFLP tech- niques. The correlation between polymorphism of OB gene and weight of Tan sheep was analyzed. The results indicated that there was a CT point mutation at locus 253 in exon 3 region of OB gene, but no mutant homozygote was found. The results of chi-square test showed that the frequency of BB and AB genotypes was con- sistent with Hardy-Weinberg equilibrium. AB genotype was the dominant genotype controlling weight of Tan sheep with the genotype frequency of 0.05. According to the results of correlation analysis, the mutation exerted significant effects on weight of Tan sheep at 3-month-old and 6-month-old （P 〈 0.05）. Moreover, interac- tions between ~enotvoe and ~ender had no sianificant effect on weight of Tan sheen （ P 〉 0.05 ）.

Relaxin/insulin-like family peptide receptor 2 （RXFP2） is a robust candidate gene related to horn types in sheep. A series of independent genome-wide association studies have reported that RXFP2 underlies the existence and lack of horns. In this study, High-Resolution Melting （HRM） analysis and DNA sequencing were employed to detect the polymorphism of RXFP2 gene in three sheep breeds from Qinghai-Tibet Plateau of China （ Tibetan sheep, Qinghai fine wool sheep and Alpine Merino sheep） and to determine the impacts of genotypes of RXFP2 on expression of horn phenotypes. The results showed that one single nucleotide pol- ymorphism （SNP） was identified as RXFP 2SNP c. 29389966 A 〉 G. The frequency of genotype AA in Alpine Merino ram （polled） was significantly higher than that in Tibetan ram （horned） and Qinghai fine wool ram （horned） Ix2（1, N= 421） = 72.25, P〈 0.001; xZ（1, N= 402） = 4.28, P〈 0.005）]; the fre- quency of genotype AA in Qinghai fine wool ewe （polled） was also much higher than that in Qinghai fine wool ewe （horned） and Tibetan ewe （horned） [x2（1, N = 196） = 42.04, P 〈 0. 001 ; x2 （ 1, N = 192） = 24. 69, P 〈 0. 005 ） ]. This mutation could potentially be exploited in marker-assisted selection （MAS） pro- grams within sheep industry to breed horned or polled animals.

MNS16A, a variable number of tandem repeats polymorphism in the TERT gene, has been suggested to regulate telomerase activity. As telomerase activity has been reported to be related to life-span, we hypothesized that this polymorphism might affect human longevity by controlling the length of the telomere. To test this hypothesis, we collected 446 unrelated pericentenarian individuals （age）90, mean 94.45±3.45 years） and 332 normal controls （age 22-53, mean 35.0±12.0 years） from Dujiangyan, Sichuan, China. We typed the MNS16A polymorphism in both groups, and compared the allele and genotype frequencies between the peri-centenarian and control groups using the chi-squared test. There was no significant difference between the peri-centenarian and control groups. Thus, the MNS16A polymorphism in TERT might not influence human life-span, at least in the Hart Chinese population studied here.

C677T polymorphism in the methylenetetrahydrofolate reductase （MTHFR） gene is a risk factor for stroke, suggesting that widespread detection could help to prevent stroke. DNA from 70 stroke pa- tients and 70 healthy controls was extracted from saliva using a magnetic nanoparticles-based method and from blood using conventional methods. Real-time PCR results revealed that the C677T polymorphism was genotyped by PCR using DNA extracted from both saliva and blood samples. The genotype results were confirmed by gene sequencing, and results for saliva and blood samples were consistent. The mutation TT genotype frequency was significantly higher in the stroke group than in controls. Homocysteine levels were significantly higher than controls in both TT genotype groups. Therefore, this noninvasive magnetic nanoparticles-based method using saliva samples could be used to screen for the MTHFR C677T polymorphism in target populations.