FF Genotype Research Articles

Vitamin D receptor gene polymorphisms and the risk of rickets among Asians: a meta-analysis

AimsTo evaluate the association between vitamin D receptor (VDR) gene polymorphisms and the risk of rickets among Asians.MethodsEligible studies were included in our meta-analysis by searching PubMed, Embase, Cochrane and...

Association between vitamin D receptor gene BsmI, FokI, ApaI and TaqI polymorphisms and the risk of systemic lupus erythematosus: a meta-analysis

Association studies of vitamin D receptor (VDR) gene polymorphisms and the risk of systemic lupus erythematosus (SLE) have yielded conflicting results in different backgrounds. We aimed to evaluate the association between VDR gene polymorphisms and SLE risk. A predefined electronic databases search was performed to identify eligible studies that were related to the association of VDR gene BsmI, FokI, ApaI or TaqI polymorphism with SLE risk. Either a fixed-effects model, or in the presence of heterogeneity, a random-effects model was used to calculate the pooled odds ratios (ORs) and its corresponding 95% confidence interval (CI). A total of 11 studies with 1,621 cases and 1,883 controls were included in this meta-analysis. BsmI B allele was associated with the onset of SLE for overall populations (OR 1.726, 95% CI 1.214-2.455) and Asians (OR 1.952, 95% CI 1.135-3.355). FokI FF genotype was correlated with the susceptibility of SLE for Asians (OR 1.469, 95% CI 1.005-2.148). FokI T/C and TaqI polymorphisms were not associated with SLE risk for Caucasians. There was no significant association between ApaI polymorphism and SLE risk for overall populations, Asians and Caucasians. No evidence of publication bias was observed. In conclusion, BsmI B allele may be a risk factor for SLE onset among overall populations and Asians, and FokI FF genotype is a risk factor for SLE susceptibility in Asians. However, more studies should be performed in the future.

Role of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D level in Egyptian female patients with systemic lupus erythematosus

Recently, several studies have demonstrated the role of vitamin D receptor (VDR) polymorphisms in the development of systemic lupus erythematosus (SLE). We aimed to evaluate VDR (ApaI, BsmI, and FokI) gene polymorphisms and haplotypes as a risk factors and/or activity markers for SLE, and whether they influence 25-hydroxyvitamin (25(OH) D) level. One hundred and seven SLE patients and 129 controls were enrolled in this study. Disease activity in SLE patients was assessed using Disease Activity Index. Polymorphisms of VDR gene were detected using polymerase chain reaction restriction fragment length polymorphism. Serum 25(OH) D levels were measured using ELISA. We found that ApaI AA genotype, BsmI B allele, Bb, BB genotypes, FokI F allele and FF genotype frequencies of VDR were increased in SLE group. There were significant associations of VDR ApaI AA, BsmI BB, and FokI FF genotypes with lupus nephritis and higher SLE activity scores. Moreover, serum 25(OH) D levels were increased in SLE patients carrying FokI ff genotype compared with patients carrying FF genotype. VDR haplotypes aBF and ABF were associated with SLE risk. The ABF haplotype was associated with higher SLE activity scores and lower serum 25(OH) D concentrations. We observed that the presence of leuko/lymphopenia, renal disorders, higher SLE activity scores and higher anti-dsDNA levels were accompanied by a significant decrease of serum 25(OH)D concentrations. We concluded that The VDR genes polymorphisms, haplotypes, and decreased 25(OH) D levels were associated with risk and more activity scores of SLE.

Vitamin D receptor (VDR) polymorphisms and severe RSV bronchiolitis: A systematic review and meta-analysis

A number of small studies have suggested a relationship between vitamin D status and severe acute lower respiratory tract infection (ALRI), including RSV-bronchiolitis. The objective of this study was to evaluate the relationship between vitamin D receptor (VDR) polymorphism and severe RSV-bronchiolitis through a systemic literature review and meta-analysis. A comprehensive electronic literature search was conducted to identify all studies published before January 2013. Two reviewers independently screened all abstracts, followed by the full text of potential articles to evaluate eligibility. Study methodological quality was evaluated using the Newcastle Ottawa scale and individual component analysis. Meta-analysis evaluated associations at the allele and genotype levels. Of 803 studies identified from our literature search, three met eligibility criteria. Two VDR polymorphisms were included in more than one study: TaqI (rs731236) and FokI (rs2228570). All three reported a positive relationship between the FokI minor allele and disease with random effects meta-analyses demonstrating a statistically significant relationship (OR 1.52, CI: 1.12, 2.05). Genotype analysis was highly suggestive of a dominant or incomplete dominance model with combined odds ratios for fF (OR 1.73, CI: 0.92-3.36) and ff (OR 2.24, CI: 0.98-5.14) compared to the FF genotype. No association between TaqI and severe RSV-bronchiolitis was evident at the allele or genotype level. Available literature supports an association between the FokI polymorphism and severe RSV disease. Determination of VDR receptor polymorphism status could help predict high-risk infants who might benefit from preventive measures.

Effect of vitamin D receptor gene (VDR) polymorphism on body height in children – own experience

Genetic and environmental factors have an influence on the process of growth and development of the body. One of numerous genetic factors can be the vitamin D receptor gene (VDR). The study aimed at evaluating the relationship between VDR polymorphism and somatic parameters in children. The study group consisted of 395 children, aged 6-18 years. All the patients underwent gene typing using the PCR-RFLP method within polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236) of the VDR receptor gene. 294 children made up the control group in the study on the incidence of particular genotypes; in 161 patients somatic measurements of body weight and height were made with standard methods and skeletal densitometry (total body and spine programmes) examination was performed. Statistica 10.0 PL was used for statistical analysis. In patients with low bone mass a relationship between body height and FokI VDR polymorphism was noted. The p-value was statistically significantly different in group I (p=0.002) and borderline significant in group III (p=0.09). None of the polymorphisms of the VDR receptor gene demonstrated any statistically significant differences in anthropometric values in the control group and in children with osteoporosis. The presence of the F allele of FokI polymorphism of the VDR receptor gene results in increased height, which is best observed in children with low bone mass. The FF genotype favours increased height in the study group of children from Łódź.

Associations between vitamin D receptor polymorphisms and breast cancer risk

Many epidemiologic studies have investigated the association between vitamin D receptor (VDR) gene polymorphisms and breast cancer risk, but the results were inconsistent. We performed a meta-analysis of 31 studies on VDR polymorphisms, including FokI, BsmI, TaqI, and ApaI, and breast cancer risk published before May 2013. For FokI, the allele of f was found to be associated with increased risk of breast cancer compared with F (OR, 1.19; 95% CI, 1.03-1.36). Patients with ff genotype were at significantly higher risk of breast cancer compared with those with FF genotype (OR, 1.95; 95% CI, 1.66-2.29). In subgroup analysis by race, Fok1 polymorphism was significantly associated with breast cancer risk for Caucasian population (f vs. F: OR, 1.35; 95% CI, 1.14-1.59; ff vs. FF: OR, 2.18; 95% CI, 1.86-2.54; ff vs. FF + Ff: OR, 1.16; 95% CI, 1.03-1.30). For ApaI, aa genotype was associated with increased breast cancer risk in Asian population based on four studies (aa vs. Aa + AA, OR, 1.49; 95% CI, 1.12-1.98). No significant association was found between breast cancer risk and ApaI and TaqI polymorphism in different models and populations. Our updated meta-analysis showed that Fok1 polymorphism is associated with breast cancer risk both in general population and in Caucasian population. ApaI polymorphism might be associated with breast cancer risk in Asian population. Large well-designed epidemiological studies are necessary to clarify the risk identified in the current meta-analysis.

Tumour antigen targeted monoclonal antibodies incorporating a novel multimerisation domain significantly enhance antibody dependent cellular cytotoxicity against colon cancer

Tumour antigen targeted antibodies (mAbs) can induce natural killer (NK) cells to kill tumours through antibody dependent cellular cytotoxicity (ADCC) upon engagement of NK cell expressed FcγRIIIa. FcγRIIIa polymorphisms partially dictate the potency of the ADCC response. The high affinity FcγRIIIa-158-valine (V) polymorphism is associated with more potent ADCC response than the low affinity FcγRIIIa-158-phenylalanine (F) polymorphism. Because approximately 45% of patients are homozygous for the FcγRIIIa-158-F polymorphism (FF genotype), their ability to mount ADCC is impaired. We investigated whether a novel mAb capable of binding multiple antigen specific targets and engaging multiple low affinity FcγRIIIa receptors could further enhance ADCC against colon cancer in vitro. Specifically, we generated a novel anti-epidermal growth factor receptor (EGFR) antibody (termed a stradobody™) consisting of an unmodified Fab sequence and two Immunoglobulin G, subclass 1 (IgG1) Fc domains separated by an isoleucine zipper domain and the 12 amino-acid IgG2 hinge. The stradobody™ framework induced multimerisation and was associated with increased binding to the EGFR and FcγRIIIa. From a functional perspective, when compared to an unmodified anti-EGFR mAb with a sequence identical to cetuximab (a commercially available anti-EGFR mAb), stradobodies™ significantly enhanced ADCC. These effects were observed using both KRAS wild type HT29 and KRAS mutant SW480 colon cancer cells as targets, and by NK cells obtained from healthy donors and a cohort of patients with colon cancer. These data suggest that high avidity cross-linking of multiple tumour surface antigens and multiple NK cell associated FcγRIIIa molecules can enhance ADCC and partially overcome impaired ADCC by FF genotype individuals in vitro.

Effects of CSN1S2 Genotypes on Economic Traits in Chinese Dairy Goats.

The aim of this study was to investigate allele frequencies at the CSN1S2 locus in two Chinese dairy goat breeds and the effects of its variation on dairy goat economic traits. Seven hundred and eight goats from Xinong Saanen (XS, n = 268) and Guanzhong (GZ, N = 440) breeds were selected. The milk samples of 268 XS goats were collected during the middle of lactation, body size parameters (708 goats) and daily milk yield (202 goats) were registered. The RFLP (restriction fragment length polymorphism) and SSCP (single strand conformation polymorphism) were used to detect the polymorphisms in CSN1S2. The Hardy-Weinberg (HW) equilibrium and the associations between body size, milk yield and composition and the genotypes were calculated. The results revealed that only A and F CSN1S2 alleles were found in the two Chinese dairy goat breeds. Allelic frequencies of A and F were 0.795, 0.205 and 0.739, 0.261 in Xinong Saanen and Guanzhong population respectively. Xinong Saanen breed was in Hardy-Weinberg equilibrium, while Guanzhong breed deviated from Hardy-Weinberg equilibrium (p<0.05). The association of polymorphism with economic traits indicated that the goats with FF genotype have higher milk fat and total solid concentration than those with AA and AF genotypes (p<0.05).

SAT0467 Long Term Outcome and Foki VDR Polimorphism in JIA Patients on Anti-TNF Treatment

BackgroundContribution of FoxI VDR (vitamin D receptor) polymorphism on disease outcome in JIA is not yet well established.ObjectivesTo investigate influence of FoxI VDR polymorphism on long term outcome in JIA...

Is the Serum Vitamin D Level at the Time of Hospital-Acquired Acute Kidney Injury Diagnosis Associated with Prognosis?

BackgroundLow circulating vitamin D levels have been suggested to potentially contribute to acute complications in critically ill patients. However, in patients with acute kidney injury (AKI), whether vitamin D deficiency occurs and is a potential contributor to worse early outcomes at the time of AKI diagnosis remains unclear.Methodology/Principal FindingsTwo hundred patients with AKI were enrolled in our study. Healthy subjects and critically ill patients without AKI served as controls. Serum vitamin D concentrations were measured in the three groups. The patients with AKI were followed up for 90 days and grouped according to median serum vitamin D concentrations. In addition, vitamin D receptor polymorphisms (BsmI and FokI) were measured in these patients; they were also followed up for 90 days and grouped according to vitamin D receptor gene mutations. Low serum 1,25-dihydroxyvitamin D levels (59.56±53.00 pmol/L) were detected in patients with AKI and decreased with increasing severity of AKI. There were no significant findings with respect to 25-hydroxyvitamin D. The 90-day survival curves of individuals with high vitamin D concentrations showed no significant differences compared with the curves of individuals with low concentrations. The survival curves of patients with BB/Bb or FF/Ff genotypes also showed no significant differences compared with patients with bb or ff genotypes. In Cox regression analysis, the vitamin D status in patients with AKI was not an independent prognostic factor as adjusted by age, sex, Sequential Organ Failure Assessment score, or vitamin D receptor polymorphisms.Conclusions/SignificancePatients with AKI manifested a marked decrease in the 1,25-dihydroxyvitamin D level at the time of AKI diagnosis, and the degree of 1,25-dihydroxyvitamin D deficiency increased with the severity of AKI. No association between the serum vitamin D level at the time of AKI diagnosis and 90-day all-cause mortality was found in patients with AKI.

A phase I study of high-dose calcitriol in combination with temozolomide for patients (Pts) with metastatic melanoma (MM).

9087 Background: Temozolomide (Tem) has demonstrated efficacy as an oral alternative for pts with MM on traditional and extended dosing schedules. Calcitriol has known antiproliferative properties in vitro, and has shown synergistic effects with chemotherapy. Additionally, vitamin D receptor (VDR) polymorphisms are associated with alterations in melanoma susceptibility and disease progression. Specifically, the VDR genotype tt/ff (Taq1 and Fok1 polymorphisms) has been associated with tumors &gt;3.5mm, though no studies have focused on survival. Methods: Tem 150mg/m2was administered on days 2-8 and 16-22 every 28 days until progression or significant toxicity. Calcitriol was given on days 1 and 15 every 28 days with 3 pts at a dose of 0.2mcg/kg, 3 pts at 0.3mcg/kg, 3 pts at 0.5mcg/kg, and an additional 11 pts at a maximum dose of 0.5mcg/kg. VDR gene analysis was completed on 17/20 pts using PCR-RFLP based assays. Tolerability was the primary objective with secondary objectives of time to progression (PFS) and overall survival (OS), both as a whole and by VDR genotype. Results: Twenty pts (males=15) with MM treated with at least one prior systemic therapy or who were not candidates for interleukin-2 (conducted pre BRAF and anti CTLA agents), were accrued. Median age was 58. The regimen was well-tolerated with leukopenia, lymphopenia, thrombocytopenia, anemia, and thrombosis as the most common grade 3 or 4 toxicities at 10% incidence each, less than observed in prior studies (Patel et al Eur J Ca 2011). Obj RR was 10%. Median PFS was 1.8 mo with a mean of 2.7 cycles given. Pts with low-risk VDR genotype non-tt or ff (n= 11) had a median OS of 7.4 mo compared to 3.8 mo for tt or ff or both (n=6)(median ratio=1.95) from time of enrollment, although not statistically significant given small sample sizes. Conclusions: The extended dosing of Tem with calcitriol is a well-tolerated oral regimen in MM. The trend toward improved OS in non-tt/ff VDR genotypes is consistent with prior studies associating the tt/ff genotype with biologic aggressiveness. Whether this represents a benefit of the inclusion of calcitriol should be studied further. Clinical trial information: NCT00301067.

Vitamin D receptor Fok I polymorphism is associated with low bone mineral density in postmenopausal women: a meta-analysis focused on populations in Asian countries

ObjectiveTo explore the associations between vitamin D receptor (VDR) gene polymorphisms (including Fok I, Bsm I and Apa I) and bone mineral density (BMD) in postmenopausal Asian women. Study designDatabases of Medline, Embase and Wangfang were retrieved to identify eligible studies, with update to 1st February 2012. Standardized mean difference (SMD) and 95% confidence intervals were calculated by using fixed- or random-effect model. Best genetic comparison model was determined by using the Thakkinstian method. ResultsA total of 14 studies with 3243 healthy postmenopausal Asian women were included in this meta-analysis. Overall, pooled analyses indicated that the f allele of VDR Fok I was significantly associated with decreased BMD in the lumbar spine (ff vs. FF: SMD (95% CI): −0.87 (−1.38, −0.35); P=0.001 for lumbar spine; −0.43 (−0.93, 0.06), P=0.086 for femoral neck). In contrast, we did not observe overall associations between VDR Bsm I and Apa I polymorphisms and BMD in either lumbar spine or femoral neck (Bsm I bb vs. BB: SMD (95% CI): 0.61 (−1.30, 2.53), P=0.531 for lumbar spine; Apa I aa vs. AA: SMD (95% CI): 0.66 (−0.16, 1.48), P=0.113 for lumbar spine). When subgroup analyses were conducted according to countries, Indians carrying the VDR Fok I ff genotype were at risk of low BMD at lumbar spine (ff vs. FF: SMD (95% CI): −0.57 (−0.85, −0.29), P<0.001). Sensitivity analyses indicated that no single study had substantial influence on all combined analyses. In addition, no publication bias was identified. ConclusionsThis meta-analysis indicated that VDR Fok I, rather than Bsm I and Apa I polymorphisms, is associated with bone mineral density in postmenopausal Asian women (especially for Indian women), and can probably be used with other genetic markers together to identify individuals at high risk of osteoporosis.

Association of vitamin D receptor gene polymorphisms with pancreatic cancer: A pilot study in a North China Population

Polymorphisms of the vitamin D receptor (VDR) gene may be a risk factor for pancreatic cancer (PC). We investigated the association of two single-nucleotide polymorphisms (SNPs) of the VDR gene with PC in age- and gender-matched patients and controls. PC (n=91) and healthy control (n=80) samples were genotyped for the FokI (rs2228570) and BsmI (rs1544410) polymorphisms using the PCR and restriction fragment length polymorphism (PCR-RFLP) method. Chi-square analysis was used to test for the overall association of VDR genotype with disease. There was a significant difference in the frequency of genotype FF between the PC patients and controls (Ptrend=0.009); however, the difference in frequency of genotype BB between the two groups was not significant (Ptrend=0.082). The difference between FF and Ff/ff frequency was significant (P=0.002). The two high-risk genotypes were ffbb and Ffbb, with an 11.66- and 6.42-fold increased risk of PC, respectively. VDR gene polymorphisms were important for the development of PC in this study population; however, further exploration of these findings and their implications are required.

Role of vitamin D receptor (VDR) polymorphisms in susceptibility to multiple myeloma in ethnic Kashmiri population

Vitamin D regulates many biological processes including bone metabolism, innate immune response, and cell proliferation and differentiation by binding to its receptor VDR. Vitamin D receptor (VDR) gene polymorphisms have been associated with many cancers like breast, colorectal, prostate, and skin. The main aim of this study was to determine whether VDR polymorphisms (ApaI, BsmI and FokI) are associated with increased risk of multiple myeloma. We designed a case control study where 75 multiple myeloma cases were studied for VDR polymorphisms (ApaI, BsmI and FokI) against 150 controls taken from general population. The polymorphisms of VDR gene were investigated using PCR-RFLP method. We did not find any significant association between ApaI and BsmI polymorphisms and multiple myeloma risk (P>0.05), but FokI polymorphism was significantly associated with increased risk for multiple myeloma. We also found a significant association between the ff variant genotype with creatinine levels, albumin levels, and Durie-Salmon stage III. Our findings suggest that the FokI polymorphism is involved in the increased susceptibility to development and progression in multiple myeloma in the ethnic Kashmiri population. Furthermore these results suggest that ff genotype is associated with higher risk for developing multiple myeloma.

Association between bone mineral density and VDR and IGF-1 gene polymorphisms in patients with congenital adrenal hyperplasia treated with glucocorticoids

Association between bone mineral density and VDR and IGF-1 gene polymorphisms in patients with congenital adrenal hyperplasia treated with glucocorticoids

Androgen regulations of cellular events involve in bone perfusion

Androgen regulations of cellular events involve in bone perfusion

Vitamin D Receptor Fok-I Polymorphism Modulates Diabetic Host Response to Vitamin D Intake

OBJECTIVEInterpopulation as well as interindividual variations in response to vitamin D intake commonly observed in subjects with type 2 diabetes may be related to genetic makeup. One of the candidate genes potentially responsible for this diversity is vitamin D receptor (VDR). This study aimed to investigate the interactive effect of VDR Fok-I polymorphism and vitamin D intake on diverse aspects of diabetic host response.RESEARCH DESIGN AND METHODSGlycemic status, lipid profiles, inflammatory biomarkers, and VDR Fok-I genotypes were determined in diabetic subjects (n = 140) who participated in a randomized controlled trial. Participants consumed two 250-mL bottles per day of yogurt drink (doogh) fortified with 500 IU vitamin D/250 mL for 12 weeks.RESULTSMean serum 25(OH)D increased by ~30 nmol/L (P < 0.001). The time × intervention effect was significant for 25(OH)D (P = 0.030), HDL (P = 0.011), high-sensitivity C-reactive protein (hsCRP) (P < 0.001), interleukin (IL)-4 (P = 0.008), and IL-6 (P = 0.017) among the genotypic groups. The alleles were defined as ‘‘F’’ or ‘‘f’’ depending on the absence or presence of the restriction site, respectively. The least increment in 25(OH)D was in ff (23.0 ± 3.8 nmol/L) compared with Ff (31.2 ± 3.4 nmol/L) and FF (35.6 ± 2.7 nmol/L) (P for trend = 0.009), but only the difference between ff and FF was significant (P = 0.023). FF group had the largest decrement of both hsCRP and IL-6 compared with Ff (P < 0.001 and P = 0.038) and ff (P = 0.010 and P = 0.048), respectively.CONCLUSIONSWe concluded that those of VDR ff genotype may be regarded as “low responders” to vitamin D intake in terms of response of circulating 25(OH)D and certain inflammatory biomarkers. A nutrigenetic approach may, therefore, be needed to protect diabetic patients from vitamin D deficiency.

Correlation of Fc?RIIIa polymorphisms and responses to rituximab in Thai population

Background: Rituximab is a chimeric IgG1 monoclonal antibody against CD20, approved for the treatment of B-cell non-Hodgkin's lymphoma (NHL). Antibody dependent cellular cytotoxicity (ADCC) has been suggested to be an important mechanism of rituximab via binding to the Fc gamma IIIa receptor (Fc?RIIIa) on natural killer (NK)cells. Fc?RIIIa has two expressed alleles that differ at amino acid position 158 in the extracellular domain, valine (V158) and phenylalanine (F158). These allelic variants have been demonstrated to differ in IgG1 binding and ADCC. V/V homozygotes and V/F heterozygotes bind to IgG with higher affinity than F/F homozygotes. Objectives: We identified the frequencies of Fc?RIIIa polymorphism and investigate the correlation between Fc?RIIIa polymorphism and rituximab responses, both in vitro and in vivo in Thai population. Methods: The RFLP-Nested PCR and allele specific amplification was used to identify the Fc?RIIIa polymorphism in the study. The correlation between Fc?RIIIa polymorphism and rituximab responses, both in vitro and in vivo, was also studied. Results: The distributions of Fc?RIIIa-158 polymorphism in these subjects are V/V 40.26%, V/F 16.88%, and F/F 42.86%. Higher rituximab-induced Ramos cell cytotoxicity (mean 33.16%, 36.87%) was observed in the subjects with VV and VF genotypes, respectively. However, the lower cytotoxicity (mean 20.07%) was determined insubjects with FF genotype. As for the in vivo study, the NHL patients with V/V or V/F genotypes had a primary response as complete response; whereas, the NHL patients with F/F genotype had partial response. Conclusion: Fc?RIIIa polymorphism and the primary response in NHL patients tend to correlate. The higher number of patients is necessary for further study. These results provide useful information to understand beneficial response of rituximab as well as other IgG1 therapeutic antibody in Thai patients. Keywords: Anti CD20, Fc?RIIIa polymorphisms, NK cell, non-Hodgkin's lymphoma, rituximab

The effect of FokI vitamin D receptor polymorphism on bone mineral density in Jordanian perimenopausal women

CONTEXT:Osteoporosis is a polygenic, multifactorial disease that is characterized by demineralization of bone, and thus presented with decreasing bone mineral mass. Vitamin D receptor (VDR) gene polymorphisms in the 3’-end region (as determined by the enzymes BsmI and ApaI) have been inconsistently associated with bone mineral mass. Another important VDR start codon polymorphism (as determined by the enzyme FokI) has been found to be related to adult bone mineral density (BMD) in pre-and post-menopausal American women.AIMS:This study aims to investigate the prevalence of the FokI VDR gene polymorphism in Jordanian perimenopausal women and study its relationship with bone mineral density.MATERIALS AND METHODS:DNA was isolated from 90 controls (Mean age = 50.41 ± 1.29 y), and 120 patients with symptomatic vertebral fractures (Mean age = 49.14 ± 3.19 y). Restriction Fragment Length Polymorphism (RFLP) analysis of FokI was performed on DNA samples.STATISTICAL ANALYSIS:Data was analyzed using SPSS v19 and Microsoft Excel 2007.RESULTS:The results showed that in controls, the FF (−0.70 ± 0.51) genotype is associated with high lumbar spine BMD Z-score as compared to Ff (−1.25 ± 0.26) and ff (−1.66 ± 0.47) genotypes (P = 0.0095). In patients, the ff genotype was associated with lower lumbar spine BMD in T-score (−2.31 ± 0.17) and Z-score (−1.56 ± 0.09) genotypes (P = 0.031). No significant association was seen in the femoral neck BMD.CONCLUSION:FokI polymorphism may be associated with low BMD in our studied population; however, further studies including other polymorphisms and large sample number are needed.

OPRK1基因SNP与梅花鹿昼间行为性状的相关性

PDF HTML阅读 XML下载 导出引用 引用提醒 OPRK1基因SNP与梅花鹿昼间行为性状的相关性 DOI: 10.5846/stxb201109291438 作者: 作者单位: 临沂大学生命科学学院 山东 临沂;扬州大学生物科学与技术学院 江苏 扬州;临沂市农业科学院 山东 临沂,临沂市农业科学院 山东 临沂,扬州大学生物科学与技术学院 江苏 扬州 作者简介: 通讯作者: 中图分类号: 基金项目: 国家自然科学基金资助项目(31001027, 31272480) The association of OPRK1 gene SNP with sika deer (Cervus nippon) diurnal behavior traits Author: Affiliation: College of Bioscience and Biotechnology,Yangzhou University,Yangzhou;Linyi Academy of Agricultural Sciences,Linyi,Linyi Academy of Agricultural Sciences,Linyi,College of Bioscience and Biotechnology,Yangzhou University,Yangzhou Fund Project: 摘要 | 图/表 | 访问统计 | 参考文献 | 相似文献 | 引证文献 | 资源附件 | 文章评论 摘要:采用目标动物取样法(Focal Animal Sampling)对江苏省扬州市平山堂养殖场及扬州市动物园48只梅花鹿(Cervus nippon)的昼间行为进行观察,以Kappa阿片受体(Kappa Opoioid Receptor 1, OPRK1)为目的基因,采用单核苷酸多态性(Single Nucleotide Polymorphisms, SNPs)方法,利用引物P-5和P-9获得OPRK1基因的不同基因型,并将二者进行最小二乘均值的多重比较,以确定OPRK1基因SNP与梅花鹿昼间行为的相关性。结果表明,引物P-5各基因型间与修饰行为两两差异显著(P<0.05),其它行为EE型和FF型差异显著(P<0.05),而另外5种行为性状在各个基因型中没有检测到显著差异;引物P-9各基因型间卧息行为GG型和GH型个体行为之间存在极显著差异(P<0.01),观望行为GG型、HH型和GH型3种基因型个体两两之间差异显著(P<0.05),修饰行为HH型和另外两者差异显著(P<0.05)。研究表明,OPRK1基因多态性和梅花鹿昼间行为性状存在一定相关。 Abstract:Genetics can help us understand why identical circumstances can elicit different behavioral responses among individuals. It is widely accepted that Kappa Opioid Receptor 1(OPRK1) gene is involved in modulating behavioral performance in response to environmental conditions. The OPRK1 gene has been intensively studied; however, no studies have addressed the effect of OPRK1 gene polymorphisms on behavioral traits in sika deer (Cervus nippon). This study investigated the association between single nucleotide polymorphisms (SNPs) in the OPRK1 gene and behavior traits of sika deer in the Ping-Shan-Tang farm (25 deer) and Zhu-Yu-Wan Park (23 deer), Yangzhou city, Jiangsu province, China. The deer on Ping-Shan-Tang farm were housed in four 20 × 10 m paddocks with shelters of mantle. In Zhu-Yu-Wan Park, the deer were roamed in a fenced paddock of grasses, shrubs and trees (100 m × 50 m). All deer were marked by ear-notches and collar-tags for easy identification and were aged between 3 and 7 years. The study was conducted in two phases: from July to December, 2006, and again from Feb to June, 2007, during all weather conditions. Focal-animal sampling and all-occurrence recording was used to determine the period of time spent on each behavior. Eight hours were spent collecting data for per day, including weekdays and weekends. Four days were used to observe every week. The observations were conducted at the same times each day from 8:30 a.m. to 4:30 p.m. and subjects were sampled in a different order each day (using random numbers). After all observations, blood samples ( 10 mL) were collected from the jugular vein using vacuum tubes with acid citrate dextrose anticoagulant and then stored at －20℃. Genomic DNA was extracted from whole blood using a standard phenol /chloroform protocol, dissolved in sterile water at a concentration of 100 ng /μL and then kept at －20℃ until use. PCR amplification and SSCP analysis of the OPRK1 gene were performed using nine pairs of primers. Two pairs of primers (P-5 and P-9) amplified polymorphic fragments. Three genotypes were identified by SSCP for each of the fragments amplified by the primer pairs. The least-square analysis and post-hoc multiple comparison were employed to detect the relationship between the primer of P-5 and P-9 genotypes and the behavior traits using SPSS 14.0 software. The results showed that the EE, EF and FF genotype of the P-5 primer had significantly difference on grooming behavior, and significant difference was found between EE and FF genotype with other behavior (P<0.05). But for the other five behaviors, no significant difference was detected. Highly significant differences in relaxing behavior were produced between the GG and GH genotypes of the primer P-9 fragment (P<0.01). There was a significant difference among the GG, GH and HH genotypes with respect to observing behavior (P<0.05). The significant difference results were also found on the grooming behavior between HH and the other two genotypes (P<0.05). We conclude that polymorphisms in the OPRK1 gene may be involved in some aspects of behavioral traits in sika deer. 参考文献 相似文献 引证文献