The Impact of<i>LEP</i>G-2548A and<i>LEPR</i>Gln223Arg Polymorphisms on Adiposity, Leptin, and Leptin-Receptor Serum Levels in a Mexican Mestizo Population

Chavarria-Ávila, Efraín; Mercado, Mónica Vázquez-Del; Gómez-Bañuelos, Eduardo; Ruiz-Quezada, Sandra Luz; Castro-Albarrán, Jorge; Sánchez-López, Lizeth; Martín-Márquez, Beatriz Teresita; Navarro-Hernández, Rosa Elena

doi:10.1155/2015/539408

Cited by 25 publications

(19 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This polymorphism had no effect on breast cancer risk in our study. There are inconsistent reports on its effect on leptin levels with the AA genotype in Indians [36] and the G allele in Mexicans having higher leptin levels [37]. Despite a reduced leptin signaling implicated for the LEPR Q223R/Gln223Arg A>G (rs1137101) [38] polymorphism, it has shown inconsistent results on breast cancer risk.…”

Section: Discussionmentioning

confidence: 99%

Circulating leptin, soluble leptin receptor, free leptin index, visfatin and selected leptin and leptin receptor gene polymorphisms in sporadic breast cancer

et al. 2017

View full text Add to dashboard Cite

BREAST CANCER is the commonest cancer and second leading cause of cancer death in women worldwide [1]. Currently it is the commonest cancer in Sri Lankan women with a cumulative incidence rate of 2.558 % and age standardised incidence rate (ASR) of 23 per 100,000 women [2]. Multiple factors including genetic, hormonal and environmental factors are associated with breast cancer.Obesity is a well-known risk factor for breast cancer [3]. In obesity adipokine secretion by the subcu-

show abstract

Section: Discussionmentioning

confidence: 99%

Circulating leptin, soluble leptin receptor, free leptin index, visfatin and selected leptin and leptin receptor gene polymorphisms in sporadic breast cancer

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Boumaiza et al (2012) also showed that G2548A has significant association with obesity 33 . Zayani et al 2018 were also found a significant association between Q223R and G2548A SNPs and obesity 39. S u r ya p ro m et a l 2 0 1 4 l i kew i s e demonstrated that there was a relationship between LEPR Gln223Arg polymorphism and Leptin Level and metabolic disorder 34,35 . Farooq et al similarly demonstrated that leptin assumes a basic role in particularly, ovulation and spermatogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…There are a couple of studies dealing with the connection between LEP G2548A and LEPR Gln223Arg polymorphisms, obesity and daily energy intake. Significantly more important, these linked are showing up in a racial dependent design [32][33][34] . Likewise, the relationship of G2548A and Gln223Arg gene polymorphism with unexplained infertility among Indian has not been examined till date.…”

Section: Association Of Lep G2548a and Lepr Gln223arg Gene Polymorphimentioning

confidence: 99%

Association of LEP G2548A and LEPR Gln223Arg Gene Polymorphism with Unexplained Infertility in North Indian Population

Kumari¹,

Shankhwar²,

Deo³

et al. 2019

J Pure Appl Microbiol

View full text Add to dashboard Cite

To investigate whether LEP G2548A and LEPR Gln223Arg gene polymorphism associated with the pathogenesis of unexplained infertility in north Indian population. This investigation randomly selected 229 female subjects of age group between 18 to 40 years (120 cases and 109 controls). At first, the members were classified into fertile and infertile. Further, they are separated based on BMI, non-obese (BMI: 18.5 to 24.5) and obese (BMI ≥ 25). The selected gene polymorphisms LEP G2548A and LEPR Gln223Arg were analyzed by polymerase chain response (PCR) followed by restriction fragment length polymorphism (RFLP). The univariate analysis reveals that Leptin, LEP G2548A and LEPR Gln223Arg genotypes, the most significant predictor of unexplained infertility (all p<0.05). The logistic regression analysis found that these three variables significant in multivariate analysis (all p<0.05) suggesting these as significant and independent predictors of unexplained infertility. The allele frequency of both LEP G2548A and LEPR Gln223Arg was found significantly different and higher in unexplained infertile than fertile. Moreover, the phenotype frequency of both LEP G2548A and LEPR Gln223Arg was also found significantly different and higher in unexplained infertile than fertile. G2548A was more frequent than LEPR Gln223Arg. This study suggested that high Leptin level and risk genotype increases the risk of infertility. Further investigations in other geographical region of India are to substantiate our finding.

show abstract

“…In particular, the original study reporting the European ancestral association between rs1137101 and OSA was conducted in a population from Poland with PSG-confirmed cases and controls matched for age, gender and BMI 66 . Given the strong relationship between OSA and obesity, it is interesting to note that these LEPR SNPs are reported in more than one study to be unassociated with risk for obesity 67–69 , suggesting variation in the LEPR gene may have effects on expression of OSA that are independent of obesity. It is unclear what are the functional consequences of these two missense mutations in LEPR ; however, both are reported in ClinVar as benign (https://www.ncbi.nlm.nih.gov/clinvar/).…”

Section: Discussionmentioning

confidence: 99%

Characterization of Genetic and Phenotypic Heterogeneity of Obstructive Sleep Apnea Using Electronic Health Records

Veatch

Bauer

Josyula

et al. 2019

Preprint

View full text Add to dashboard Cite

38Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete 39 cessation of airflow during sleep and is linked to negative health outcomes. Understanding the 40 genetic factors influencing expression of OSA may lead to new treatment strategies. Electronic 41 health records can be leveraged to both validate previously reported OSA-associated genomic 42 variation and detect novel relationships between these variants and comorbidities. We identified 43 candidate single nucleotide polymorphisms (SNPs) via systematic literature review of existing 44 research. Using datasets available at Geisinger (n=39,407) and Vanderbilt University Medical 45Center (n=24,084), we evaluated associations between 48 SNPs and OSA diagnosis, defined 46 using clinical codes. We also evaluated associations between these SNPs and OSA severity 47 measures obtained from sleep reports at Geisinger (n=6,571). Finally, we used a phenome-wide 48 approach to perform discovery and replication analyses testing associations between OSA 49 candidate SNPs and other clinical codes and laboratory values. Ten SNPs were associated with 50 OSA diagnosis in at least one dataset, and one additional SNP was associated following meta-51 analysis across all datasets. Three other SNPs were solely associated in subgroups defined by 52 established risk factors (i.e., age, sex, and BMI). Five OSA diagnosis-associated SNPs, and 16 53 additional SNPs, were associated with OSA severity measures. SNPs associated with OSA 54 diagnosis were also associated with codes reflecting cardiovascular disease, diabetes, celiac 55 disease, peripheral nerve disorders and genitourinary symptoms. Results highlight robust OSA-56 associated SNPs, and provide evidence of convergent mechanisms influencing risk for co-57 occurring conditions. This knowledge can lead to more personalized treatments for OSA and 58 related comorbidities. 59 60In the United States (US), 50-70 million individuals suffer from a disorder of sleep and 62 wakefulness 1 . Among the most common sleep disorders is obstructive sleep apnea (OSA). OSA 63 is defined by frequent episodes of reduced (hypopnea) or complete cessation (apnea) of airflow 64 that occur as a consequence of upper airway obstruction during sleep. Approximately 34% of 65 men and 17% of women aged 30-70 exhibit mild OSA, and 13% and 6%, respectively, suffer 66 from moderate to severe OSA 2 . Notably, prevalence rates substantially increase by the age of 67 50 years old 2 . When left untreated, OSA represents a significant public health burden carrying a 68 higher risk of serious comorbidities such as cardiovascular disease 3-11 , cancer incidence 12 and 69 mortality, all causes 13; 14 , cognitive impairment 15 , and rate of progression of 70 neurodegeneration 16 . As such, identifying more effective diagnosis and management of OSA 71 are important areas of research. 72OSA is a complex, phenotypically heterogeneous disorder driven by both obesity-related 73 factors and other mechanisms [17][18][19] . A number of studies have ...

show abstract

The Impact ofLEPG-2548A andLEPRGln223Arg Polymorphisms on Adiposity, Leptin, and Leptin-Receptor Serum Levels in a Mexican Mestizo Population

Cited by 25 publications

References 44 publications

Circulating leptin, soluble leptin receptor, free leptin index, visfatin and selected leptin and leptin receptor gene polymorphisms in sporadic breast cancer

Circulating leptin, soluble leptin receptor, free leptin index, visfatin and selected leptin and leptin receptor gene polymorphisms in sporadic breast cancer

Association of LEP G2548A and LEPR Gln223Arg Gene Polymorphism with Unexplained Infertility in North Indian Population

Characterization of Genetic and Phenotypic Heterogeneity of Obstructive Sleep Apnea Using Electronic Health Records

Contact Info

Product

Resources

About