Effect of Genetic Polymorphisms on Development of Gout

2013 ◽  
Vol 40 (8) ◽  
pp. 1374-1378 ◽  
Author(s):  
Wako Urano ◽  
Atsuo Taniguchi ◽  
Eisuke Inoue ◽  
Chieko Sekita ◽  
Naomi Ichikawa ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Genetic Factors ◽  
Japanese Patients ◽  
Cumulative Effects ◽  
Clinical Factors ◽  
Risk Alleles ◽  
C Statistic ◽  
Japanese Male ◽  
Male Patients ◽  
The Mean

Objective.To validate the association between genetic polymorphisms and gout in Japanese patients, and to investigate the cumulative effects of multiple genetic factors on the development of gout.Methods.Subjects were 153 Japanese male patients with gout and 532 male controls. The genotypes of 11 polymorphisms in the 10 genes that have been indicated to be associated with serum uric acid levels or gout were determined. The cumulative effects of the genetic polymorphisms were investigated using a weighted genotype risk score (wGRS) based on the number of risk alleles and the OR for gout. A model to discriminate between patients with gout and controls was constructed by incorporating the wGRS and clinical factors. C statistics method was applied to evaluate the capability of the model to discriminate gout patients from controls.Results.Seven polymorphisms were shown to be associated with gout. The mean wGRS was significantly higher in patients with gout (15.2 ± 2.01) compared to controls (13.4 ± 2.10; p < 0.0001). The C statistic for the model using genetic information alone was 0.72, while the C statistic was 0.81 for the full model that incorporated all genetic and clinical factors.Conclusion.Accumulation of multiple genetic factors is associated with the development of gout. A prediction model for gout that incorporates genetic and clinical factors may be useful for identifying individuals who are at risk of gout.

Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers

2016 ◽  
Vol 21 (3) ◽  
pp. 457-464 ◽  
Author(s):  
Takahiro Imaizumi ◽  
Masahiko Ando ◽  
Masahiro Nakatochi ◽  
Shoichi Maruyama ◽  
Yoshinari Yasuda ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Genetic Polymorphisms ◽  
Dietary Salt ◽  
Salt Consumption ◽  
Japanese Male ◽  
Male Workers

scholarly journals Polygenic risk score and risk of monoclonal B-cell lymphocytosis in caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans

Leukemia ◽  
2021 ◽  
Author(s):  
Geffen Kleinstern ◽  
J. Brice Weinberg ◽  
Sameer A. Parikh ◽  
Esteban Braggio ◽  
Sara J. Achenbach ◽  
...  
Keyword(s):  
Environmental Factors ◽  
B Cell ◽  
Risk Score ◽  
Genetic Factors ◽  
Strong Predictor ◽  
Lymphocytic Leukemia ◽  
European Ancestry ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
C Statistic

AbstractMonoclonal B-cell lymphocytosis (MBL) is a precursor to CLL. Other than age, sex, and CLL family-history, little is known about factors associated with MBL risk. A polygenic-risk-score (PRS) of 41 CLL-susceptibility variants has been found to be associated with CLL risk among individuals of European-ancestry(EA). Here, we evaluate these variants, the PRS, and environmental factors for MBL risk. We also evaluate these variants and the CLL-PRS among African-American (AA) and EA-CLL cases and controls. Our study included 560 EA MBLs, 869 CLLs (696 EA/173 AA), and 2866 controls (2631 EA/235 AA). We used logistic regression, adjusting for age and sex, to estimate odds ratios (OR) and 95% confidence intervals within each race. We found significant associations with MBL risk among 21 of 41 variants and with the CLL-PRS (OR = 1.86, P = 1.9 × 10−29, c-statistic = 0.72). Little evidence of any association between MBL risk and environmental factors was observed. We observed significant associations of the CLL-PRS with EA-CLL risk (OR = 2.53, P = 4.0 × 10−63, c-statistic = 0.77) and AA-CLL risk (OR = 1.76, P = 5.1 × 10−5, c-statistic = 0.62). Inherited genetic factors and not environmental are associated with MBL risk. In particular, the CLL-PRS is a strong predictor for both risk of MBL and EA-CLL, but less so for AA-CLL supporting the need for further work in this population.

Analysis of clinical factors and reasons that influence the disposition of cryopreserved embryos in Japanese patients with infertility treated in our clinic

2021 ◽  
Vol 47 (4) ◽  
pp. 1425-1432
Author(s):  
Yuko Nakagawa ◽  
Sachie Onogi ◽  
Shi‐Qing Zhang ◽  
Seiko Nishihara ◽  
Masanori Ito ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Clinical Factors ◽  
Cryopreserved Embryos

scholarly journals Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients

2013 ◽  
pp. 143 ◽  
Author(s):  
Takaaki Hayashi ◽  
Yasuhiro Ohkuma ◽  
Tsutomu Sakai ◽  
Akira Watanabe ◽  
Hisashi Yamada ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Japanese Patients ◽  
Retinal Angiomatous Proliferation ◽  
Risk Alleles

Primary or Redo Posterior Sagittal Anorectoplasty without a Stoma: To Feed or Not to Feed?

2017 ◽  
Vol 29 (02) ◽  
pp. 150-152 ◽  
Author(s):  
Clare Skerrit ◽  
Alexander Dingemans ◽  
Victoria Lane ◽  
Alejandra Sanchez ◽  
Laura Weaver ◽  
...  
Keyword(s):  
Breast Milk ◽  
Wound Dehiscence ◽  
Anorectal Malformations ◽  
Wound Complication ◽  
Wound Complications ◽  
Age At Surgery ◽  
Significant Difference ◽  
Male Patients ◽  
The Mean ◽  
Picc Line

Introduction Repair of anorectal malformations (ARMs), primarily or with a reoperation, may be performed in certain circumstances without a diverting stoma. Postoperatively, the passage of bulky stool can cause wound dehiscence and anastomotic disruption. To avoid this, some surgeons keep patients NPO (nothing by mouth) for a prolonged period. Here, we report the results of a change to our routine from NPO for 7 days to clear fluids or breast milk. Materials and Methods After primary or redo ARM surgery, patients given clear liquids were compared to those who were kept strictly NPO. Age, indication for surgery, incision type, use of a peripherally inserted central catheter (PICC) line, and wound complications were recorded. Results There were 52 patients, including 15 primary and 37 redo cases. Group 1 comprised 11 female and 15 male patients. The mean age at surgery was 4.9 years (standard deviation [SD]: 2.3). There were 8 primary cases and 18 redo cases. Twelve (46.6%) received a PICC line. The average start of clear liquids was on day 5.3 (SD: 2.2) after examination of the wound, and the diet advanced as tolerated. The first stool passage was recorded on average on day 2.3 (SD: 1.3). Four minor wound complications and no major wound complications occurred.Group 2 comprised 14 females and 12 male patients. The mean age at surgery was 3.5 (SD: 2.4) years. There were 7 primary and 19 redo cases. One (3.8%) patient required a PICC line. A clear liquid diet was started within 24 hours after surgery. A regular diet was started on average on day 5.8 (SD: 1.3). The first stool passage was recorded on an average of day 1.6 (SD: 0.9). Three minor wound complications occurred; however, there was no significant difference between the two groups (SD: 0.71). One major wound complication occurred. However, there was no significant difference in major wound complications between the groups (SD: 0.33). Conclusion No increase in wound problems was noted in children receiving clear liquids or breast milk compared with the strict NPO group, and PICC line use was reduced. We believe this change in practice simplifies postoperative care without increasing the risk of wound complications.

Impact of IGF-I and CYP19 Gene Polymorphisms on the Survival of Patients With Metastatic Prostate Cancer

2006 ◽  
Vol 24 (13) ◽  
pp. 1982-1989 ◽  
Author(s):  
Norihiko Tsuchiya ◽  
Lizhong Wang ◽  
Hiroyoshi Suzuki ◽  
Takehiko Segawa ◽  
Hisami Fukuda ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Bone Metastasis ◽  
Cancer Patients ◽  
Genetic Polymorphisms ◽  
Metastatic Prostate Cancer ◽  
Genetic Factors ◽  
Response To Treatment ◽  
Logrank Test ◽  
Ca Repeat ◽  
Igf I

Purpose The prognosis of metastatic prostate cancer significantly differs among individuals. While various clinical and biochemical prognostic factors for survival have been suggested, the progression and response to treatment of those patients may also be defined by host genetic factors. In this study, we evaluated genetic polymorphisms as prognostic predictors of metastatic prostate cancer. Patients and Methods One hundred eleven prostate cancer patients with bone metastasis at the diagnosis were enrolled in this study. Thirteen genetic polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism or an automated sequencer with a genotyping software. Results Among the polymorphisms, the long allele (over 18 [CA] repeats) of insulin-like growth factor-I (IGF-I) and the long allele (over seven [TTTA] repeats) of cytochrome P450 (CYP) 19 were significantly associated with a worse cancer-specific survival (P = .016 and .025 by logrank test, respectively). The presence of the long allele of either the IGF-I or CYP19 polymorphisms was an independent risk factor for death (P = .019 or .026, respectively). Furthermore, the presence of the long allele of both the IGF-I and CYP19 polymorphisms was a stronger predictor for survival (P = .001). Conclusion The prognosis of metastatic prostate cancer patients is suggested to be influenced by intrinsic genetic factors. The IGF-I (CA) repeat and CYP19 (TTTA) repeat polymorphisms may be novel predictors in prostate cancer patients with bone metastasis at the diagnosis.

Distribution and Heritability of Recurrent Ear Infections

1997 ◽  
Vol 106 (8) ◽  
pp. 624-632 ◽  
Author(s):  
Kari J. Kvaerner ◽  
Jennifer R. Harris ◽  
Kristian Tambs ◽  
Per Magnus
Keyword(s):  
Structural Equation ◽  
Genetic Factors ◽  
Age Of Onset ◽  
Population Based ◽  
Equation Modeling ◽  
Relative Contribution ◽  
Genes And Environment ◽  
Ear Infections ◽  
The Mean ◽  
Familial Environment

The distribution of recurrent ear infections was obtained from a population-based sample of 2,750 pairs of Norwegian twins born between 1967 and 1974. The lifetime prevalence of self-reported recurrent ear infections was 8.9%, with a significant predominance of female cases. The mean age of onset was 4.2 years, with a gradual decrease in occurrence from 2 to 7 years of age. Among monozygotic pairs, the rate of tetrachoric correlation between co-twins was almost identical in males (0.73, SE 0.08) and females (0.74, SE 0.06), but among the dizygotic pairs the correlation was clearly higher in males (0.53, SE 0.12) than in females (0.20, SE 0.12). The value in the unlike-sexed dizygotic twins (0.25, SE 0.05) was intermediate to that of the like-sexed male and female dizygotic pairs. The relative contribution of genes and environment to variability in the predisposition to develop otitis media was estimated by means of structural equation modeling. Variation in liability to ear infections was mainly explained by additive genetic and dominance factors in females, for whom heritability was estimated at 74%. The remaining 26% of the variation in liability was explained by individual environmental factors. In males, 45% of the variation could be accounted for by genetic factors, 29% by common familial environment, and the remaining 26% by individual environmental effects.

scholarly journals Comparison of Clinical Features Between Patients with Positive and Negative Appendectomy

2020 ◽  
Author(s):  
Guner Cakmak ◽  
Baris Mantoglu ◽  
Emre Gonullu ◽  
Kayhan Ozdemir ◽  
Burak Kamburoglu
Keyword(s):  
Acute Appendicitis ◽  
Clinical Features ◽  
Total Bilirubin ◽  
Negative Appendectomy ◽  
C Reactive Protein ◽  
Future Studies ◽  
Female Patients ◽  
Reactive Protein ◽  
Male Patients ◽  
The Mean

Abstract Background: The objective of this study was to retrospectively compare clinical features and prognostic values between the patients who were referred to the general surgery clinic of our hospital with the presumed diagnosis of acute appendicitis and underwent positive or negative appendectomy.Methods: Patients were divided into two groups as positive (PA) (n:362) and negative appendectomy (NA) (n:284) and the data obtained were compared between these two groups.Laboratory investigations were performed in all patients, and white blood cell (WBC), mean platelet volume (MPV), neutrophils count (NEU), neutrophils (%) (NEU%), C-reactive protein (CRP) and total bilirubin (TBIL) values were studied.Results: The mean MPV value was found as 7.88 fl in PA groups and 8.09 fl in NA group, and the mean MPV value was not statistically significantly difference in PA group, compared to NA groups (p=0.012). Laboratory parameters were also compared between genders. Accordingly, the mean MPV value was statistically significantly higher in female patients compared to male patients in PA group (p = 0.04). The mean TBIL value was 0.97 mg/dl in PA group and 0.69 mg/dl in NA group, and the mean TBIL value was statistically significantly higher in PA group (p< 0.001). Finally, TBIL value was statistically significantly lower in female patients compared to male patients in NA and PA group (p < 0.05).Conclusions: According to the results of our study, MPV and T. BIL values differ in PA and NA groups depending on gender. Therefore, these values may not be used as specific biomarkers in predicting positive acute appendicitis. We believe that these results will contribute to the literature and will be guiding for future studies.

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