Lack of association of the G22A polymorphism of the ADA gene in patients with ankylosing spondylitis

Camargo, U.; Cintra, Juliana R.; Nunes, Daniela Prudente Teixeira; Toledo, Ricardo Acayaba de; Mattos, Cinara Cássia Brandão de; Mattos, Luiz Carlos de

doi:10.4238/2012.may.7.3

Cited by 2 publications

(1 citation statement)

References 16 publications

(20 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The ADA1 gene is located on human chromosome 20q13.11 and consists of 12 exons and 11 introns [Khodadadi 2014;Wiginton et al 1986] whereas ADA2 is encoded by the CECR1 gene consisting of 9 exons located on chromosome 22q11.1 and belongs to a new family of adenosine deaminase growth factors [Zavialov et al 2010]. Among the over 1,450 known single nucleotide polymorphisms of ADA1 gene (http://www.genecards.org/), the polymorphism resulting from the substitution of G by A at nucleotide 22 of exon 1 has attracted much more attention [Camargo et al 2012;Dutra et al 2010;Hettinger et al 2008;Napolioni 2010;Napolioni and Predazzi 2010;Nunes et al 2011;Riksen et al 2008]. G22A polymorphism (rs73598374) replaces the Asp amino acid (G allele) with Asn amino acid (A allele) in position 8 of the enzyme protein.…”

Section: Introductionmentioning

confidence: 99%

Association of G22A and A4223C ADA1 gene polymorphisms and ADA activity with PCOS

Salehabadi

Farimani²,

Tavilani

et al. 2016

Systems Biology in Reproductive Medicine

View full text Add to dashboard Cite

Adenosine deaminase-1 (ADA1) regulates the concentration of adenosine as the main modulator of oocyte maturation. There is compelling evidence for the association of ADA1 gene polymorphisms with many diseases but the importance of ADA1 polymorphisms in polycystic ovary syndrome (PCOS) has not been studied before. This study investigates serum total ADA activity (tADA), ADA1 and ADA2 isoenzyme activities, and genotype and allele frequencies of G22A and A4223C polymorphisms in healthy and PCOS women. In this case-control study 200 PCOS patients and 200 healthy women were enrolled. Genomic DNA was extracted from whole blood and the PCR-RFLP technique was used to determine the G22A and A4223C variants. The genotype frequencies were calculated and the association between polymorphic genotypes and enzyme activities were determined. tADA activity was significantly lower in the PCOS group compared with the control group (27.76±6.0 vs. 39.63±7.48, respectively). PCOS patients also showed reduced activity of ADA1 and ADA2. PCOS was not associated with G22A polymorphism whereas AA, AC, and CC genotypes of A4223C polymorphism were found distributed differently between the control and the PCOS women where the C allele showed a strong protective role for PCOS (odds ratio=1.876, p=0.033). The present study for the first time showed that lower ADA activity may be involved in pathogenesis of PCOS by maintaining a higher concentration of adenosine affecting follicular growth. As a novel finding, we also showed great differences in genotype distribution and allele frequencies of A4223C polymorphism between groups indicating a protective role for C allele against PCOS. AbbreviationsADA: adenosine deaminase PCOS: polycystic ovary syndrome PCR-RFLP: polymerase chain reaction-restriction fragment length polymorphism tADA: total adenosine deaminase.

show abstract

Section: Introductionmentioning

confidence: 99%

Association of G22A and A4223C ADA1 gene polymorphisms and ADA activity with PCOS

Salehabadi

Farimani²,

Tavilani

et al. 2016

Systems Biology in Reproductive Medicine

View full text Add to dashboard Cite

show abstract

Protective Role of ADA*2 Allele of the Adenosine Deaminase Gene Against Recurrent Spontaneous Abortions in Iranian Women

Najafi

Ahmadi

Hajihosseini

et al. 2019

Iran Red Crescent Med J

View full text Add to dashboard Cite

Background: Adenosine deaminase (ADA) is involved in recurrent spontaneous abortion (RSA) while normal pregnancy is defined by suppressed cell-mediated immunity.Objectives: This study aimed to determine the connection between single nucleotide polymorphism (SNP) G22A and protection against RSA. Methods: In this analytical case-control study, the allele frequency of ADA G22A gene polymorphism was determined in 113 participants including 50 women with RSA and 63 healthy pregnant women using RFLP-PCR to determine if there is a statistically significant difference in the frequency of ADA genotypes between the patient group and the control group.Results: The frequency of ADA2/ADA2 (AA) genotype was significantly different between RSA patients and controls (P= 0.004) while no significant differences were identified in the genotype frequency of ADA1/ADA1 (GG)(OR= 0.678; P= 0.228) and ADA1/ADA2 (GA)(OR= 0.976; P= 0.943). SNP G22A in the ADA gene was associated with the protection against RSA. The frequency of ADA alleles in RSA patients was compared between the age groups, and the results indicated that the ADA2 (A) allele was associated with protection against RSA in patients aged 35 years or younger (P< 0.0001). Conclusions:The findings showed that women carrying the ADA* 2 allele are protected against RSA.

show abstract

Lack of association of the G22A polymorphism of the ADA gene in patients with ankylosing spondylitis

Cited by 2 publications

References 16 publications

Association of G22A and A4223C ADA1 gene polymorphisms and ADA activity with PCOS

Association of G22A and A4223C ADA1 gene polymorphisms and ADA activity with PCOS

Protective Role of ADA*2 Allele of the Adenosine Deaminase Gene Against Recurrent Spontaneous Abortions in Iranian Women

Contact Info

Product

Resources

About