Molecular Scanning of the Human Peroxisome Proliferator Activated Receptor γ (hPPARγ) Gene in Diabetic Caucasians: Identification of a Pro12Ala PPARγ2 Missense Mutation

Yen, Chung–Jen; Beamer, Brock A.; Negri, Carlo; Silver, Kristi; Brown, Kimberly; Yarnall, David P.; Burns, Daniel K.; Roth, Jesse; Shuldiner, Alan R.

doi:10.1006/bbrc.1997.7798

Cited by 473 publications

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“…The genotypes of the PPARG2 Pro12Ala missense mutation were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using primers and conditions described previously 1415. PCR reactions were performed with 10 pmol each of sense primer (5’-GCCAATTCAAGCCCAGTC-3’) and an antisense (primer 5’-GATATGTTTGCAGACAGTGT ATCAGTGAAGGAATCGCTTTCCG-3’) that flank the region containing the 12-amino acid site of PPARG2 16. By using these primers, a PCR product of 270 bp was obtained.…”

Section: Methodsmentioning

confidence: 99%

Prevalence of the Pro12Ala missense mutation in the PPARG2 gene in Kuwaiti patients with primary knee osteoarthritis

Al-Jarallah

Shehab

Haider

2011

Annals of Saudi Medicine

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BACKGROUND AND OBJECTIVES:Peroxisome proliferator–activated receptors (PPARs) play an important role in a number of cellular and metabolic functions. This study was carried out to determine the prevalence of a missense mutation (Pro12Ala) in the PPARG2 gene in Kuwaiti Arab patients with primary knee osteoarthritis (OA) and healthy controls with the aim of identifying a possible association.DESIGN AND SETTING:A prospective cross-sectional study carried out at three major teaching hospitals (referral centers) in the country over a one-year period.PATIENTS AND METHODS:The prevalence of PPARG2 gene Pro12Ala missense mutation was determined in 104 Kuwaiti Arab patients with primary knee OA and 111 ethnically matched healthy controls. The prevalence of this Pro12Ala missense mutation was also determined in clinical subgroups of OA patients divided on the basis of age at onset, function and radiologic grading.RESULTSThe Pro-Pro genotype of the PPARG2 gene Pro12Ala missense mutation was detected in 95/104 (91.3%) cases compared to 111/111 (100%) in the control subjects. The heterozygous Pro-Ala genotype was detected in 9/104 (8.7%) of the OA patients, while it was not detected in any of the controls. The Ala-Ala genotype was not detected in any of the OA patients or the controls. No significant differences were detected in the PPARG2 gene Pro12Ala genotypes in the subgroups of patients classified on the basis of age at onset, functional assessment using Lequesne’s functional index, and radiological grading using Kellgren-Lawrence (K-L) grading.CONCLUSIONSThis study found no significant association between the PPARG2 gene Pro12Ala missense mutation and knee OA. However, the presence of the Pro-Pro genotype of the PPARG2 gene mutation has a protective effect against development of OA.

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Section: Methodsmentioning

confidence: 99%

Prevalence of the Pro12Ala missense mutation in the PPARG2 gene in Kuwaiti patients with primary knee osteoarthritis

Al-Jarallah

Shehab

Haider

2011

Annals of Saudi Medicine

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“…The Pro 12 Ala variant was detected by restriction fragment length polymorphism with BstU-1 using primers designed by Yen et al [35]. The PCR conditions for this experiment were optimised as follows: initial denaturation at 95°C for 5 min, followed by 30 cycles of denaturation at 95°C for 1 min, annealing at 59°C for 1 min and extension at 72°C for 1 min, with a final extension of 10 min at 72°C.…”

Section: Methodsmentioning

confidence: 99%

Influence of Pro12Ala peroxisome proliferator-activated receptor γ2 polymorphism on glucose response to exercise training in type 2 diabetes

et al. 2005

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“…PPAR γ exists as two isoforms, γ1 and γ2, generated by alternative promoters and differential splicing of at least three different transcripts from the PPAR γ gene on chromosome 3p25. Several polymorphisms in PPAR γ2 have been identified so far and one of the common structural polymorphism in the PPAR γ2 gene was identified as CCA-to-GCA (Pro12Ala) missense mutation in codon 12 of exon B (Yen et al, 1997). This substitution possibly results in a conformational change in protein structure and reduced function of the PPAR γ2 gene.…”

Section: Introductionmentioning

confidence: 99%

PPAR-Gamma Pro12Ala Polymorphism and Gastric Cancer Risk in a Turkish Population

Canbay

Kurnaz²,

Canbay³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Background: Peroxisome proliferator-activated receptor gamma (PPARγ) is a ligand dependent transcription factor involved in various processes, including carcinogenesis. We aimed to investigate any possible association of the PPARγ Pro12Ala (rs1801282) polymorphism with risk of developing gastric cancer (GC). Patients and Methods: A hospital based case control study was designed covering 50 patients with GC and 120 healthy controls. The frequencies of PPARγ Pro12Ala (rs1801282) were determined using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: The Ala12 allele of the PPARγ Pro12Ala G gene was associated with a 1.95 fold increased risk of GC development (p: 0.022; 95% CI: 1.58-2.40). Subgroup analyses showed that the same allele was also associated with metastasis (p: 0.000; OR:4.09; 95%CI:2.273-7.368) and differentiation (p: 0.004; OR:1.95; 95%CI:1.335-2.875) in patients with GC. Conclusion: This study suggests that the PPARγ Pro12Ala G (Ala12) allele might be associated with development, differentiation and metastatic process of GC in the Turkish population. Further studies conducted in larger study groups and in different ethnic populations will be needed to clarify the exact role of the PPARγ Pro12Ala polymorphism in GC.

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Molecular Scanning of the Human Peroxisome Proliferator Activated Receptor γ (hPPARγ) Gene in Diabetic Caucasians: Identification of a Pro12Ala PPARγ2 Missense Mutation

Cited by 473 publications

References 0 publications

Prevalence of the Pro12Ala missense mutation in the PPARG2 gene in Kuwaiti patients with primary knee osteoarthritis

Prevalence of the Pro12Ala missense mutation in the PPARG2 gene in Kuwaiti patients with primary knee osteoarthritis

Influence of Pro12Ala peroxisome proliferator-activated receptor γ2 polymorphism on glucose response to exercise training in type 2 diabetes

PPAR-Gamma Pro12Ala Polymorphism and Gastric Cancer Risk in a Turkish Population

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