scholarly journals Polymorphisms of Leptin (-2548 G/A) and Leptin Receptor (Q223R) Genes in Iranian Women with Breast Cancer

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Reza Mahmoudi ◽  
Bahareh Noori Alavicheh ◽  
Mohammad Amin Nazer Mozaffari ◽  
Mohammad Fararouei ◽  
Mohsen Nikseresht

Recent studies have shown that polymorphisms in leptin and leptin receptor genes are associated with increased risk for breast cancer. This study aimed at investigating -2548 G/A polymorphism in leptin gene and Q223R polymorphism in leptin receptor gene in patients with breast cancer. The study included 45 women with breast cancer and 41 healthy women. PCR-RFLP was used to determine the genotype of the subjects in terms of -2548 G/A polymorphism in leptin gene and Q223R polymorphism in leptin receptor gene. Serum levels of leptin were also measured by ELISA. For -2548 G/A polymorphism, the genotypes were homozygous AA (OR = 1.13;p=0.8) and heterozygous GA (OR = 0.41;p=0.2) and for Q223R polymorphism, the genotypes were homozygous RR (OR = 6.7;p=0.09) and heterozygous QR (OR = 8.3;p=0.06). The mean serum level of leptin was 33.22 ± 21.35 ng/mL in patients and 29.49 ± 23.27 ng/mL in the normal participants (p=0.3). Although, despite the magnitude of the associations, the results suggested no statistically significant contribution of -2548 G/A polymorphism (in leptin gene), Q223R polymorphism (in leptin receptor gene), and serum leptin levels in predicting the risk of breast cancer, further studies with larger sample size are suggested.

2006 ◽  
Vol 237 (1) ◽  
pp. 137-142 ◽  
Author(s):  
Hee-Yeon Woo ◽  
Hyosoon Park ◽  
Chang-Seok Ki ◽  
Yong Lai Park ◽  
Won Gil Bae

Oncology ◽  
2007 ◽  
Vol 72 (1-2) ◽  
pp. 75-81 ◽  
Author(s):  
Chien-Liang Liu ◽  
Yuan-Ching Chang ◽  
Shih-Ping Cheng ◽  
Schu-Rern Chern ◽  
Tsen-Long Yang ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Anil Kumar Verma ◽  
Vineet Ahuja ◽  
Jaishree Paul

Host genetic susceptibility is an important risk factor in infectious diseases. We explored the distribution of Q223R mutation in leptin receptor gene of amoebic liver abscess (ALA) patients of North India. A total of 55 ALA samples along with 102 controls were subjected to PCR-RFLP analysis. The frequency of allele “G” (coding for arginine) was in general high in Indian population irrespective of the disease. Our results of Fisher exact test shows that heterozygous mutant (QQ versus QR,P=0.049) and homozygous mutant (QQ versus RR,P=0.004) were significantly associated with amoebic liver abscess when compared with homozygous wild (QQ).


2020 ◽  
Vol 39 (11) ◽  
pp. 3465-3472
Author(s):  
Abd EL-Moaty Ali Afifi ◽  
Reham M. Shaat ◽  
Ola Mohamed Gharbia ◽  
M. Elhanafy ◽  
Al Shimaa Goda Hasan

2006 ◽  
Vol 91 (4) ◽  
pp. 1513-1519 ◽  
Author(s):  
Annika Vaclavicek ◽  
Kari Hemminki ◽  
Claus R. Bartram ◽  
Kerstin Wagner ◽  
Barbara Wappenschmidt ◽  
...  

Context: The contribution of prolactin (PRL) through its receptor (PRLR) to the pathogenesis and progression of human mammary tumors has received recent attention. Objective: We investigated whether genetic variation in the PRL and PRLR genes is associated with the risk of breast cancer (BC). Design: We conducted a case-control study with a total of seven single nucleotide polymorphisms (SNPs). Setting: The study was conducted at an academic research laboratory and university clinics. Patients and Other Participants: A total of 441 German familial, unrelated BC cases and 552 controls matched by age, ethnicity, and geographical region participated in the study. Intervention(s): There were no interventions. Main Outcome Measures(s): SNP genotype and haplotype distributions and haplotype interactions were correlated with the risk of BC. Results: Two SNPs (rs1341239 and rs12210179) within the PRL promoter regions were significantly associated with increased risk in homozygotes for the variant alleles [odds ratio (OR), 1.67 and 95% confidence interval (CI), 1.11–2.50; and OR, 2.09 and 95% CI, 1.23–3.52, respectively]. The PRL haplotype containing the variant alleles of the promoter SNPs increased significantly the risk of BC (OR 1.42, 95%CI 1.07–1.90). A PRLR haplotype was associated with a significant decrease in BC risk (OR 0.69, 95% CI 0.54–0.89). An increasing number of PRL and PRLR risk haplotypes led to a significant trend of increasing risk for BC (χ2 = 12.15; P = 0.007). Conclusions: Genetic variation in the PRL and PRLR genes was shown to influence BC risk. Additional studies are needed to further clarify the role of the PRL and PRLR genes in the risk of BC.


2016 ◽  
Vol 19 (2) ◽  
pp. 51-60 ◽  
Author(s):  
J Krsteski ◽  
S Jurgec ◽  
M Pakiž ◽  
I But ◽  
U Potočnik

AbstractUterine leiomyomas (ULM) are a common cause of solid pelvic tumors in women. Their etiopathogenesis remains unclear. Interleukins (ILs) and their receptors can influence tumor biology of ULM. The aim of this study was to evaluate single nucleotide polymorphisms (SNPs) exhibited in the genes IL4 (rs2070874), IL4R (rs1801275), IL12RB1 (rs11575934), IL12B (rs6887695), IL13 (rs20541) and IL23R (rs7517847) as risk factors for ULM in Slovenian women and to identify associations between corresponding clinical parameters and the analyzed SNPs. In addition, solitary and multiple ULM were compared to identify clinical and/or genetic parameters influencing their occurrence. We conducted a case-control study that included 181 women with leiomyomas and 133 control subjects. Genotyping of selected SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and high resolution melting (HRM) techniques. The TT genotype of rs20541 (IL13) was significantly associated with decreased risk of ULM compared to both the CC and CT genotypes [p = 0.018; odds ratio (OR) = 0.184; 95% confidence interval (95% CI) = 0.048-0.7121. Using genetic and clinical data to develop a predictive model with logistic regression, we found that adenomyosis, higher age at diagnosis, family history of ULM occurrence, earlier menarche, lower number of pregnancies and lower age at first sexual intercourse, the G allele and genotypes AG and GG of rs1801275 (IL4R) were associated with an increased risk of multiple ULM occurrence. We also found an association between rs20541 (IL13) and 17ß-estradiol serum levels in patients with multiple ULM (p 0.003). Our study showed, for the first time, that rs20541 (IL13) may contribute to susceptibility of ULM development and that rs1801275 (IL4R) can predispose patients to develop multiple ULM.


2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Efraín Chavarria-Avila ◽  
Mónica Vázquez-Del Mercado ◽  
Eduardo Gomez-Bañuelos ◽  
Sandra-Luz Ruiz-Quezada ◽  
Jorge Castro-Albarran ◽  
...  

The polymorphisms in leptin (LEPG-2548A) and leptin-receptor (LEPRGln223Arg) seem to influence obesity and lipid metabolism among others. The aim of this study was to investigate the effect of these polymorphisms on adiposity, leptin (sLeptin), and leptin-receptor (sLeptin-receptor) serum concentrations as well as inflammation markers. We included 382 adults originally from Western Mexico. They were genotyped by PCR-RFLP. Obese individuals showed higher sLeptin (58.2±31.35 ng/mL) but lower sLeptin-receptor (12.6±3.74 ng/mL) levels than normal weight ones (17.6±14.62 ng/mL,17.4±4.62 ng/mL, resp.),P<0.001. Obese subjects carriers of Arg/Arg genotype had more (P=0.016) sLeptin-receptor (14.7±4.96 ng/mL) and less (P=0.004) sLeptin (44.0±28.12 ng/mL) levels than Gln/Gln genotype (11.0±2.92 ng/mL,80.3±33.24 ng/mL, resp.). Body fat mass was lower (Pfrom 0.003 to 0.045) for A/A (36.5%±6.80) or Arg/Arg (36.8%±6.82) genotypes with respect to G/G (41.3%±5.52) and G/A (41.6%±5.61) or Gln/Gln (43.7%±4.74) and Gln/Arg (41.0%±5.52) genotypes carriers. Our results suggest thatLEP-2548A andLEPR223Arg could be genetic markers of less body fat mass accumulation in obese subjects from Western Mexico.


2008 ◽  
Vol 126 (1-3) ◽  
pp. 38-48 ◽  
Author(s):  
Cun-Zhi Han ◽  
Li-Li Du ◽  
Jie-Xian Jing ◽  
Xian-Wen Zhao ◽  
Fu-Guo Tian ◽  
...  

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