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1.
Jakubowska-Pietkiewicz E Młynarski W Klich I Fendler W Chlebna-Sokół D 《Molecular biology reports》2012,39(5):6243-6250
To determine the relationship between the polymorphism of vitamin D receptor gene and the bone mineral density in children.
The study group consisted of 395 children aged 6–18 years. All patients underwent genotyping using the PCR-RFLP method within
polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and Taq I (rs731236) of the VDR gene. The BMD (g/cm2, Z score) and BMC (g, Z score) by DXA method, as well as Z scores of the BUA, SOS and Stiffness ultrasound parameters were evaluated. Based on densitometry results, children were divided
into 3 groups: I—Z score ± 1.0; II—Z score from −1.1 to −2.0; and III—Z score ≤ −2.1. A control group numbering 294 children was used for the purpose of allele frequency comparisons. The occurrence
of studied polymorphism alleles in the control group did not significantly differ from the values expected according to the
Hardy–Weinberg equilibrium (p values: 0.1224 for BsmI; 0.5958 for TaqI; 0.0817 for ApaI; and 0.8901 for FokI). Allele a ApaI carrier status in group III children was associated with an increased BMD (x = 0.8 vs 0.69, p = 0.0296) and BMC value (x = 28.76 vs 22.14, p = 0.0565) in spine projection results, Stiffness (x = −1.12 vs −1.91, p = 0.0347) and SOS (x = −1.43 vs −2.27, p = 0.0319) ultrasound parameters. In group II, significantly increased SOS values (−1.13 vs −1.73, p = 0.0378) were noted in f (FokI) carriers. The presence of aa
ApaI and ff
FokI polymorphisms favours a higher bone mass and better bone structure (decreased bone mass loss) in the analysed group. 相似文献
2.
Although environmental factors are important, there is considerable evidence that genes also have a significant role in the
pathogenesis of obesity. We conducted a population-based study to investigate the relationship between candidate genes for
obesity (UCP1, UCP2, ADRA2B, ADRB3, LEPR, VDR and ESR1) and adiposity measures (body mass index, body fat percentage, weight, waist circumference and waist–hip ratio) in terms
of individual gene and gene × gene interaction in models unadjusted and adjusted for covariates (age, years since menopause,
educational level and total energy intake). Postmenopausal women with TC genotype of ESR1 gene had higher body fat percentage than those with TT genotype in the models unadjusted and adjusted for the covariates
(P = 0.006 in adjusted model). In multiple logistic regression analysis, BsmI and ApaI SNPs of VDR genes were significantly associated with overweight and obesity. The UCP2–VDR
ApaI interaction to susceptibility of overweight and obesity was first observed from logistic regression analysis, and then confirmed
in the multifactor dimensionality reduction method unadjusted and adjusted for the covariates. This interaction had 69.09%
prediction accuracy for overweight and obesity (P = 0.001, sign test). In conclusion, the study suggests the significant association of ESR1 and VDR genes with adiposity measures and the UCP2–VDR
ApaI interaction to susceptibility to being overweight and obesity in postmenopausal Vietnamese women. 相似文献
3.
Kurt O Yilmaz-Aydogan H Uyar M Isbir T Seyhan MF Can A 《Molecular biology reports》2012,39(6):6723-6730
It has been suggested that the estrogen receptor alpha (ERα) and vitamin D receptor (VDR) genes as possibly implicated in reduced bone mineral density (BMD) in osteoporosis. The present study investigated the relation
of ERα PvuII/XbaI polymorphisms and VDR FokI/TaqI polymorphisms with BMD in Turkish postmenopausal women. Eighty-one osteoporotic and 122 osteopenic postmenopausal women
were recruited. For detection of the polymorphisms, polymerase chain reaction-restriction fragment lenght polymorphism techniques
have been used. BMD was measured at the lumbar spine and hip by dual-energy X-ray absorptiometry. Distributions of ERα (PvuII dbSNP: rs2234693, XbaI dbSNP: rs9340799) and VDR genotypes (FokI dbSNP rs10735810, TaqI dbSNP: rs731236) were similar in study population. Although overall prevalence of osteoporosis had no association with these
genotypes, the prevalence of decreased femoral neck BMD values were higher in the subjects with ERα PvuII “PP” and ERα
XbaI “XX” genotypes than in those with “Pp/pp” genotypes and “xx” genotype, respectively (P < 0.05). Furthermore, subjects with VDR FokI “FF” genotype had lower BMD values of femoral neck and total hip compared to those with “Ff” genotype (P < 0.05). In the logistic regression analysis, we confirmed the presence of relationships between the VDR
FokI “FF” genotypes, BMI ≤ 27.5, age ≥ 55 and the increased risk of femoral neck BMD below 0.8 value in postmenopausal women.
The present data suggests that the ERα PvuII/XbaI and VDR FokI polymorphisms may contribute to the determination of bone mineral density in Turkish postmenopausal women. 相似文献
4.
Young Ho Lee Jin-Hyun Woo Seong Jae Choi Jong Dae Ji Gwan Gyu Song 《Molecular biology reports》2010,37(1):227-234
Associations between polymorphisms of the osteoprotegerin gene (OPG) and bone mineral density (BMD) have been studied by several research groups, but results are mixed. Accordingly, the authors
performed a meta-analysis on studies of associations between OPG polymorphisms and BMD. Appropriate studies were identified using MEDLINE and by manual searching. A total of eight separate
comparisons were considered in this meta-analysis. Individuals with the GG genotype of G1181C were found to have a significantly
lower mean lumbar BMD than subjects with the CC genotype (WMDs −0.051 g/cm2, 95% confidence interval −0.079−−0.023, P < 0.001), and similar results were obtained in European and Asian populations. In contrast to G1181C, no association was
found between the A163G and T950C polymorphisms and lumbar BMD. In terms of femoral neck BMD, the GG genotype of G1181C was
associated with a significantly lower BMD than the CC genotype in Europeans but not in Asians. Total hip BMD was lower for
the GG genotype of G1181C than for the CC or GC genotypes in Europeans. A difference in total hip BMD was found between the
AG and GG genotypes of the A163G polymorphism by meta-analyses in Europeans, but no differences were found between the genotypes
of the T950C polymorphism and total hip BMD in Europeans. Summarizing, the present study demonstrates that the OPG G1181C polymorphism is associated with lumbar BMD in Europeans and Asians, and with femoral neck and total hip BMD in Europeans
only. 相似文献
5.
We examined whether polymorphisms of the vitamin D receptor (VDR) gene was associated with individual risk of hand osteoarthritis (OA). Radiographs of both hands of 295 dentists and of 248
teachers were examined and classified for the presence of OA using reference images. The VDR ApaI and TaqI genotypes were determined by PCR-based methods. No association was observed between the VDR polymorphisms and the odds of overall hand OA. However, the carriers of the VDR t allele or At haplotype were at almost half the odds of symmetrical hand OA (odds ratio [OR] = 0.60, 95% confidence interval [CI] = 0.38–0.94
and OR = 0.59, 95% CI = 0.38–0.93, respectively) compared with the carriers of the T allele and of the non-At haplotype, respectively. Increased odds of this disease, on the contrary, was observed for women with two copies of the VDR a allele (OR = 1.93, 95% CI = 1.99–3.70) compared with women with the AA genotype. Conversely, the VDR a allele carriage was associated with a tendency of lowered odds of osteophyte (OR = 0.51, 95% CI = 0.25–1.03). When the genotype
data were used to construct haplotypes, the VDR AaTt joint genotype appeared to pose a remarkably lower odds (OR = 0.26, 95% CI = 0.08–0.91) of osteophyte compared with the AAtt joint genotype. As a novel finding we observed a joint effect of a low calcium intake and VDR polymorphisms on symmetrical OA; the OR was 2.64 (95% CI = 1.29–5.40) for carriers of the aT haplotype with low daily calcium intake compared with non-carriers of the haplotype with high daily calcium intake. Our results
suggest that VDR gene polymorphisms play a role in the etiology of symmetrical hand OA. Moreover, the association between the VDR gene and OA may be modified by calcium intake. 相似文献
6.
Shun-zhi Liu Li-fang Tian Peng Xu Gui-hua Zhuang Fang Zheng Juan Tian Qi-Lan Ning Bo-Feng Zhu She-Min Lu Hong Yan 《Molecular biology reports》2011,38(2):939-948
Osteoporosis is a degenerative disease of the skeletal system, and its major complication is fracture that severely influences
the living quality of the middle-aged and the aged. The purpose of this study was to investigate the significance of sex hormones
and some biochemical indicators related to bone metabolism in the genesis and development of osteoporosis. The plasma samples
were collected from 244 post-menopausal women of Xi’an urban area, and their plasma contents of testosterone, estradiol, calcitonin,
osteocalcin and N-terminal propeptide of type I procollagen were detected by ELISA. The activity of tartrate-resistant acid
phosphatase was determined by spectrophotometric method, and the content of nitric oxide was measured by Griess method. Bone
mineral density (BMD) in lumbar vertebrae (L1–L4) and hips was measured by QDR-2000 dual energy X-ray absorptiometry. The
concentrations of the biochemical indicators were compared among the three groups (normal bone mass group, osteopenia group
and osteoporosis group), and Pearson correlation analysis was used to verify the correlations between the indicators and BMD.
The comparison results of blood biochemical indicators of BMD-based groups showed that the plasma contents of estradiol (P = 0.006), testosterone (P = 0.038) and calcitonin (P = 0.042) decreased more significantly in the osteoporosis group, but the content of osteocalcin (P = 0.008) increased significantly in osteoporosis group than those in the other groups. The correlation analysis between BMD
of different parts and the blood biochemical indicators showed that there was a significant positive correlation between estradiol
and the BMD of lumber vertebra (r = 0.200, P = 0.002), femoral neck (r = 0.160, P = 0.013), and great trochanter (r = 0.204, P = 0.001). Significant positive correlations between calcitonin and BMD of lumber vertebra (r = 0.166, P = 0.018) and femoral great trochanter (r = 0.152, P = 0.041), and between testosterone and BMD of femoral great trochanter (r = 0.158, P = 0.014) were also observed. In addition, there existed significant negative correlations between osteocalcin and BMD of
lumber vertebra (r = −0.220, P = 0.001), femoral neck (r = −0.259, P < 0.000), and great trochanter (r = −0.221, P = 0.001), and between the activity of tartrate-resistant acid phosphatase and BMD of femoral great trochanter (r = −0.135, P = 0.037). The partial correlation analysis also showed that there were significant correlations between estradiol (r = 0.160, P = 0.014), calcitonin (r = 0.240, P = 0.013), osteocalcin (r = −0.226, P = 0.023) and BMD when the influence of age was excluded. The Pearson correlation analysis of biochemical indicators showed
there were positive correlations between the contents of testosterone and calcitonin, testosterone and osteocalcin, calcitonin
and osteocalcin, calcitonin and PINP, calcitonin and NO, osteocalcin and NO, and PINP and NO, but negative correlations between
the contents of testosterone and PINP, estradiol and calcitonin, estradiol and osteocalcin, and estradiol and NO. The blood
contents of sex hormones and calcitonin significantly influence BMD and osteoporosis development, and the increase of osteocalcin
contents could be used as a biomarker to indicate the degree of osteoporosis in post-menopausal women. 相似文献
7.
The aim of this study was to determine whether the interleukin-10 (IL-10) polymorphisms confer susceptibility to rheumatoid
arthritis (RA). A meta-analysis was conducted on the associations between the IL-10 −1082 G/A, −592 C/A, −892 C/T and IL-10.R
polymorphisms and RA using; (1) allele contrast, (2) the recessive model, (3) the dominant model, and (4) the additive model.
A total of 16 studies (19 comparisons) involving 2647 RA patients and 3383 controls were considered in the meta-analysis.
Meta-analysis of the IL-10 −1082 G/A polymorphism showed no association with RA in the study subjects, or in European or Asian
subjects. However, meta-analysis of the −1082 G allele in 4 studies in Hardy–Weinberg equilibrium showed a significant association
with RA (OR = 1.217, 95% CI = 1.027–1.442, P = 0.0236). In contrast, meta-analysis of the C allele, the CC genotype, and of the CC versus the AA genotype of the IL-10
−592 C/A polymorphism showed significant associations with RA. The overall ORs of the associations between the C allele and
RA were 0.684 and 0.758 (95% CI = 0.494–0.946, P = 0.022; 95% CI = 0.475–1.210, P = 0.045) in all study subjects and Asians. Meta-analysis of the CC + CT versus TT genotype and of the CC versus TT genotype
of the IL-10 −892 C/T polymorphism revealed significant associations with RA. The overall OR of the association between the
C allele carrier and RA was 0.552 (95% CI = 0.375–0.812, P = 0.003). No association was found between the IL10.R2 alleles and RA. This meta-analysis suggests that the IL-10 −592 C/A
polymorphism confers susceptibility to RA in Asians and that the IL-10 −1082 G/A and −892 C/T polymorphisms are associated
with RA susceptibility. These findings suggest the IL-10 genes confer susceptibility to RA. 相似文献
8.
The objective of this study was to examine the effect of genetic variants in fat mass and obesity associated (FTO) gene on metabolic syndrome (MetS). A systematic literature search was performed and random-effects meta-analysis was used
to evaluate genetic variants in FTO with MetS. A gene-based analysis was conducted to investigate the cumulative effects of genetic polymorphisms in FTO. A total of 18 studies from 13 published papers were included in our analysis. Random-effects meta-analysis yielded an estimated
odds ratio of 1.19 (95% CI 1.12–1.27; P = 1.38 × 10−7) for rs9939609, 1.19 (95% CI 1.05–1.35; P = 0.008) for rs8050136, and 1.89 (95% CI 1.20–2.96; P = 0.006) for rs1421085. The gene-based analysis indicated that FTO is strongly associated with MetS (P < 10−5). This association remains after excluding rs9939609, a SNP that was frequently reported to have strong association with
obesity and MetS. In this study, we concluded that the FTO gene may play a critical role in leading to MetS. Targeting this gene may provide novel therapeutic strategies for the prevention
and treatment of metabolic syndrome. 相似文献
9.
C. Marois C. Fablet O. Gaillot H. Morvan F. Madec M. Kobisch 《Journal of applied microbiology》2009,107(6):1830-1836
Aims: To examine the variability among Pasteurella multocida strains isolated from pigs (nasal, tonsil and lung specimens) and humans in France. Methods and Results: The genetic diversity of 117 French isolates of P. multocida, obtained from pigs (n = 101) and humans (n = 16) and three reference strains, was evaluated by pulsed‐field gel electrophoresis (PFGE) after macrorestriction with ApaI. Sixty‐four patterns were detected. The genetic relationships revealed five clusters (Aa1, Aa2, Aa3, Ab and B). The pig isolates obtained from pneumonic lungs and nasal cavities were clustered in groups Ab and Aa1, respectively (P < 0·05). Up to four different PFGE patterns were detected in the same farm. Isolates producing dermonecrotic toxins were clustered only in group Aa1, suggesting that the toxigenic isolates were more genetically homogenous than the others. Conversely, cluster Aa3 was significantly associated with human isolates even if the human isolates are spread over most of the clusters. Conclusions: Pasteurella multocida strains were genetically diverse, but pig and human isolates were significantly clustered in distinct phylogenetic groups. Significance and Impact of the Study: The discrimination index was >0·95 in both populations of human and pig isolates. Therefore, ApaI‐PFGE seems to be a useful tool for epidemiological tracing of P. multocida infections. 相似文献
10.
Tumor necrosis factor-alpha (TNF-α) has been regarded as a candidate gene for Crohn’s disease (CD) based on its inflammatory function in immune reaction and
the clinical effectiveness of anti-TNF-α therapy. However, studies to date have reported inconsistent findings for the association
between TNF-α and CD. The PubMed, EMBASE, and Medline databases were systematically reviewed from all English language publications
up to April, 2011. A total of twenty-nine studies concerning the association between CD and the TNF-α promoter polymorphisms of −308G/A, −857C/T and −238G/A were identified, among of them only twenty-three studies match the
inclusion criteria (including 3,843 cases and 6,260 controls) and were selected for the statistical test. We found that neither
the G allele of −308G/A (OR 1.02, 95% CI 0.87–1.19, P = 0.84), C allele of −857C/T (OR 0.97, 95% CI 0.86–1.09, P = 0.57) and G allele of −238G/A (OR 0.91, 95% CI 0.70–1.18, P = 0.48), and nor their GG (OR 1.05, 95% CI 0.88–1.25, P = 0.59), CC (OR 0.98, 95% CI 0.86–1.12, P = 0.76) and GG (OR 0.92, 95% CI 0.70–1.21, P = 0.55) genotypes were associated with CD susceptibility, respectively. Our meta-analysis demonstrates that three promoter
polymorphisms of TNF-α above may not confer susceptibility to CD. 相似文献
11.
SMAD7 has been demonstrated to antagonize TGF-β-mediated fibrosis, carcinogenesis, and inflammation. Two previous genome-wide
association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. We conducted the first case–control study in a Han Chinese
population to explore the associations between these three SNPs and colorectal, gastric, and lung cancers. Of the three SNPs,
only rs12953717 was strongly associated with the three types of cancer, fitting the overdominant model. Compared with the
CC/TT (CC combined with TT) genotype, the adjusted odds ratios for the CT genotype were 2.002 (95% CI, 1.250–3.207, P = 0.004), 1.678 (95% CI, 1.048–2.689, P = 0.031), 3.825 (95% CI, 2.310–6.335, P < 1 × 10−4), and 2.294 (95% CI, 1.537–3.343, P < 1 × 10−4), respectively, for colorectal, gastric, lung, and combined cancers. These outcomes suggest that rs12953717 is a common risk
marker of these three types of cancer in the Han Chinese. 相似文献
12.
Background
Type 1 diabetes mellitus (T1DM) is recognized as a T-cell-mediated autoimmune disease. Vitamin D compounds are known to suppress T-cell activation by binding to vitamin D receptor (VDR); and thus, VDR gene polymorphisms may be related to T-cell-mediated autoimmune diseases. The aim of this study was to investigate the association between vitamin D status and VDR gene polymorphisms and T1DM.Materials and methods
One hundred and twenty patients with T1DM and one hundred and twenty controls were enrolled in the study. VDR gene BsmI, FokI, ApaI and TaqI polymorphisms were determined using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Serum 25-hydroxyvitamin D (25(OH)D) was determined using ELISA.Result
Serum 25(OH)D levels revealed a vitamin D deficiency or insufficiency in 75% of the patients. The mean levels of vitamin D were significantly lower in patients as compared to their controls (P = < 0.001). VDR BsmI Bb and bb genotypes and VDR FokI Ff and ff genotypes were associated with increased risk of T1DM (OR = 2.3, 95% CI = 1.3–4.2, P = 0.005; OR = 2.2, 95% CI = 1.1–4.7, P = 0.04; OR = 1.8, 95% CI = 1.03–3.04, P = 0.04; OR = 4.03, 95% CI = 1.2–13.1, P = 0.01 respectively), while the VDR ApaI and TaqI polymorphisms were not.Conclusion
Our study indicated that vitamin D deficiency and VDR BsmI and FokI polymorphisms were associated with T1DM in Egyptian children. 相似文献13.
Liping Hou Shufeng Chen Hongjiang Yu Xiangfeng Lu Jianhong Chen Laiyuan Wang Jianfeng Huang Zhongjie Fan Dongfeng Gu 《Human genetics》2009,125(1):11-20
The human PLA2G7 gene encodes lipoprotein-associated phospholipase A2 (Lp-PLA2), an emerging risk factor for cardiovascular diseases. In the present study, seven single nucleotide polymorphisms (SNPs)
in the PLA2G7 gene were genotyped in 827 patients with coronary heart disease (CHD), of which 512 were patients with myocardial
infarction (MI), and 947 age- and gender-matched controls in a Chinese Han population. Plasma Lp-PLA2 activity was measured in 416 randomly selected controls and 689 randomly selected CHD patients, including 423 MI patients.
Lp-PLA2 activity in CHD and MI cases was significantly higher (233.42 ± 57.66 and 234.27 ± 59.51 nmol ml−1 min−1, respectively) than in controls (211.47 ± 58.61 nmol ml−1 min−1). After adjusting for traditional risk factors by logistic regression, the odds ratios for CHD and MI per 1 standard deviation
increment of Lp-PLA2 activity were 1.27 (95% CI, 1.07–1.50) and 1.27 (95% CI, 1.05–1.54), respectively. Both single SNP analysis and haplotype
analysis showed that the V279F and I198T polymorphisms were significantly associated with the reduced Lp-PLA2 activity, but neither was associated with increased CHD risk. Both univariate and multivariate analyses, adjusting effects
of conventional factors, indicated that the rs13210554 T allele increased the risk of MI in this Chinese Han population. In
summary, an independent association of increased plasma Lp-PLA2 activity with CHD and MI existed in this Chinese Han Population. Although V279F and I198T mutations significantly decreased
the activity of Lp-PLA2, only the promoter rs13210554 polymorphism was associated with MI. Lp-PLA2 activity appears to influence the CHD and MI risk in Chinese Han population.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
14.
The relationship of stomach cancer susceptibility and the presence of E-cadherin (CDH1) promoter −160 C/A polymorphism had been reported with conflicting results. To further explore the association of this polymorphism
with stomach cancer susceptibility, we performed an extensive search of relevant studies and carried out a meta-analysis to
obtain a more precise estimate. A total of 16 studies including 2,611 cases and 3,788 controls were involved in this meta-analysis.
When all studies involved, the meta-analysis results suggest no statistically significant association between CDH1 −160 C/A polymorphism and stomach cancer risk (CA vs. CC: OR = 1.01, 95% CI: 0.85–1.19; AA vs. CC: OR = 1.05, 95% CI: 0.75–1.46;
dominant model: OR = 1.02, 95% CI: 0.86–1.20; recessive model: OR = 1.04, 95% CI: 0.76–1.41). When subgroup analyses were
performed by ethnicity, the A-allele carriers conferred a decreased stomach cancer risk in Asians (AA vs. CC: OR = 0.67, 95%
CI: 0.47–0.96; dominant model: OR = 0.85, 95% CI: 0.72–0.99), but no statistically significant association was found in Caucasians.
In conclusion, this meta-analysis suggests that CDH1 −160 A-allele may play a protective role of stomach cancer development in Asians but not in Caucasians. 相似文献
15.
Cyclin-dependent kinase inhibitor-2A/B (CDKN2A/B) has been reported as a candidate gene of type 2 diabetes (T2D) based on its chromosomal position and its important role
in β-cell function and regeneration. However, studies to date have reported inconsistent findings regarding the association
between T2D and CDKN2A/B. To clarify this inconsistence, we conducted a meta-analysis based on alleles and genotypes prevalence of rs10811661 and
rs564398 in CDKN2A/B. The PubMed, EMBASE, and Medline databases were systematically reviewed for studies published between January, 2006, and
November, 2010. A total of 35 reports were collected, among of them only 16 studies (including 24,407 cases and 33,937 controls)
match the inclusion criteria and were selected for the statistical test. In the meta-analysis of published data, our results
suggest that the rs10811661 T allele (OR 1.28, 95% CI 1.21–1.36, P < 1 × 10−5) and TT genotype (OR 1.32, 95% CI 1.22–1.43, P < 1 × 10−5) of CDKN2A/B were associated with type 2 diabetes respectively, but rs564398 was not (for allele only: OR 0.96, 95% CI 0.88–1.05, P = 0.35). The association between rs10811661 T allele and T2D was observed both in Asia (P < 1 × 10−4) and Europe ethnicity groups (P = 0.002). This meta-analysis yielded evidence that rs10811661 of CDKN2A/B confers risk for T2D. Larger studies with mixed ethnicity subjects are required to validate our findings. 相似文献
16.
Muhammad Usman Rashid Merium Muzaffar Faiz Ali Khan Maria Kabisch Noor Muhammad Sabeen Faiz Asif Loya Ute Hamann 《PloS one》2015,10(10)
Background
Vitamin D is postulated to decrease the risk of breast cancer by inhibiting cell proliferation via the vitamin D receptor (VDR). Two common single nucleotide polymorphisms (SNPs) in the VDR gene, rs1544410 (BsmI) and rs2228570 (FokI), are inconsistently associated with breast cancer risk in Caucasian populations, while data for Asians are scarce. Here, we investigated the possible contribution of these SNPs to breast cancer risk in Pakistani breast cancer patients and in controls participating in a hospital-based breast cancer case-control study (PAK-BCCC).Methods
Genotyping of the BsmI and FokI SNPs was performed by PCR-based restriction fragment length polymorphism (RFLP) analysis of 463 genetically enriched female breast cancer cases with known BRCA1/2 status and in 1,012 controls from Pakistan. The association between SNP genotypes and breast cancer risk was investigated by logistic regression adjusted for potential breast cancer risk factors and stratified by BRCA1/2 status and family history. Odds ratios (ORs) and 95% confidence intervals (CIs) were reported.Results
The b allele of the BsmI was associated with an increased breast cancer risk (per b allele OR 1.28, 95% CI 1.09–1.49, P = 0.003). Subgroup analysis revealed that this effect was restricted to BRCA1/2 non-carriers (per b allele OR 1.33, 95% CI 1.11–1.59, P = 0.002) and was stronger in those who reported a positive family history of breast and/or ovarian cancer (per b allele OR 1.64, 95% CI 1.20–2.22, P = 0.002). No association with breast cancer risk was detected for the FokI SNP.Conclusions
The BsmI polymorphism in the VDR gene may be associated with an increased breast cancer risk in Pakistani women negative for BRCA1/2 germline mutations. 相似文献17.
Edith Falcón-Ramírez Leonora Casas-Avila Antonio Miranda Pilar Diez Clementina Castro Julieta Rubio Rocío Gómez Margarita Valdés-Flores 《Molecular biology reports》2011,38(5):2987-2992
The Sp1 binding site polymorphism in collagen type I alpha 1 gene (COLIA1) has been associated with osteoporosis (OP) and
bone mineral density (BMD). The aim of this study was to explore the association of this polymorphism with OP and BMD in the
Mexican population by polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) procedure. Allelic
and genotypic frequencies from the Sp1 polymorphism were determined in 100 women with OP, 100 women without OP and 500 subjects
from general Mexican population (GMP). Distribution of Sp1 polymorphism was in Hardy–Weinberg equilibrium. In spite of population
structure due to racial mix in Mexican population, associations with OP were demonstrated. The frequency of “s” allele was
significantly higher in women with OP (35%) than in women without OP (11%; P < 0.00001). Interestingly, “ss” genotype, was exclusive of women with OP and was associated with low BMD (0.588 ± 0.077 g/cm2) in contrast to “SS” genotype (0.733 ± 0.039 g/cm2; P = 0.0001). This work confirms the association of Sp1 polymorphism with low BMD and OP in Mexican population and make sure
to use Sp1 as a genetic marker for OP in our population. 相似文献
18.
Agachan Cakmakoglu B Attar R Kahraman OT Dalan AB Iyibozkurt AC Karateke A Attar E 《Molecular biology reports》2011,38(5):3481-3486
In this study, we aimed to investigate a possible association of the COX-2 polymorphisms (−765G→C and −1195A→G) and with the risk of developing epithelial ovarian carcinoma (EOC). COX-2 gene polymorphisms was investigated in 111 healthy
women and 57 patients with EOC. Individuals who had −765 CG, −1195 AA genotype, and −765 C allele had increased risk for ovarian
carcinoma (P < 0.01) and individuals with −765 GG, −1195 AG genotypes and −1195 G allele seem to be protected from ovarian carcinoma (P < 0.01). Haplotype analysis confirmed the association of COX-2 gene variants with ovarian carcinoma and revealed that the
frequencies of −765C: −1195A haplotype frequencies was significantly higher in patients as compared with those of controls
(P = 0.048). We state that there appears to be a modulating role for the COX-2 −1195A→G and −765G→C polymorphisms in the development of EOC. To the best of our knowledge, this is the first study to show such an association. 相似文献
19.
The aim of this study was to explore whether vitamin D receptor (VDR) polymorphisms confer susceptibility to psoriasis. Meta-analyses
were conducted on the associations between the VDR ApaI, TaqI, BsmI, and FokI polymorphisms and psoriasis. Nine relevant studies
on VDR polymorphisms and psoriasis were included in this meta-analysis, which involved 742 psoriasis patients and 715 controls.
Meta-analysis indicated an association between the VDR ApaI A allele and psoriasis in Turkish studies (OR = 0.684, 95% CI = 0.475–0.985,
p = 0.041). Meta-analysis indicated an association between the BsmI B allele and psoriasis in Asians (OR = 0.636, 95% CI = 0.411–0.984,
p = 0.041), and showed a significant association between the FF and ff genotypes of the FokI polymorphism and psoriasis in
all study subjects and in Turkish studies (OR = 2.028, 95% CI = 1.194–3.446, p = 0.009; OR = 3.582, 95% CI = 1.602–8.009, p = 0.002). This meta-analysis suggests that the VDR ApaI polymorphism confers susceptibility to psoriasis in the Turkish population.
In addition, associations were found between the BsmI polymorphism and susceptibility to psoriasis in Asians and between the
Fok I polymorphism and psoriasis in the Turkish population. 相似文献
20.
Ruiz-Narvaez EA Fraser PA Palmer JR Cupples LA Reich D Wang YA Rioux JD Rosenberg L 《Human genetics》2011,130(6):807-815
The major histocompatibility complex (MHC) on chromosome 6p21 is a key contributor to the genetic basis of systemic lupus
erythematosus (SLE). Although SLE affects African Americans disproportionately compared to European Americans, there has been
no comprehensive analysis of the MHC region in relationship to SLE in African Americans. We conducted a screening of the MHC
region for 1,536 single nucleotide polymorphisms (SNPs) and the deletion of the C4A gene in a SLE case–control study (380 cases, 765 age-matched controls) nested within the prospective Black Women’s Health
Study. We also genotyped 1,509 ancestral informative markers throughout the genome to estimate European ancestry to control
for population stratification due to population admixture. The most strongly associated SNP with SLE was the rs9271366 (odds
ratio, OR = 1.70, p = 5.6 × 10−5) near the HLA-DRB1 gene. Conditional haplotype analysis revealed three other SNPs, rs204890 (OR = 1.86, p = 1.2 × 10−4), rs2071349 (OR = 1.53, p = 1.0 × 10−3), and rs2844580 (OR = 1.43, p = 1.3 × 10−3), to be associated with SLE independent of the rs9271366 SNP. In univariate analysis, the OR for the C4A deletion was 1.38, p = 0.075, but after simultaneous adjustment for the other four SNPs the odds ratio was 1.01, p = 0.98. A genotype score combining the four newly identified SNPs showed an additive risk according to the number of high-risk
alleles (OR = 1.67 per high-risk allele, p < 0.0001). Our strongest signal, the rs9271366 SNP, was also associated with higher risk of SLE in a previous Chinese genome-wide
association study (GWAS). In addition, two SNPs found in a GWAS of European ancestry women were confirmed in our study, indicating
that African Americans share some genetic risk factors for SLE with European and Chinese subjects. In summary, we found four
independent signals in the MHC region associated with risk of SLE in African American women. 相似文献