Linkage analysis of angiotensin-converting enzyme (ACE) insertion/deletion polymorphism and systemic lupus erythematosus

Kaufman, Kenneth M.; Kelly, Jennifer A.; Gray‐McGuire, Courtney; Asundi, Neeraj; Yu, Haitao; Reid, Jeff; Baird, Tiffany; Hutchings, David; Bruner, Gail R.; Scofield, R. Hal; Moser, Kathy L.; Harley, John B.

doi:10.1016/s0303-7207(01)00424-5

Cited by 47 publications

(70 citation statements)

References 14 publications

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“…Previous studies in LN have been limited to the ACE I/D polymorphism, and have yielded highly discordant results. 14,[28][29][30][31][32][33][34] One of the larger studies with 144 LN cases in a Chinese population demonstrated an increase in the ACE D allele in LN compared to healthy controls and, similar to our study, further increase of the D allele was observed in LN patients with progressive renal insufficiency compared to patients with stable LN. 28 In a study of Korean patients (83 with LN), no association with LN was found.…”

Section: Discussionsupporting

confidence: 82%

“…Finally, despite the highly significant variation in previous studies of the ACE D allele, the three studies most similar to ours (focusing on progression and/or using SLE subjects without LN as controls) yielded results consistent with our findings. 28,31,32 In conclusion, we found significant genetic associations of two chromosomally independent RAS genes with the specific phenotype of progressive LN. Our results demonstrate strong associations of two ACE variants with low GFR among Asian LN patients.…”

Section: Ras Gene Polymorphisms and Lupus Nephritismentioning

confidence: 63%

“…In a linkage analysis of the ACE I/D in SLE, although no significant association with SLE was observed, the LOD score did increase in the Caucasian LN subgroup, and a significant increase in the DD genotype was observed in the African-American LN subgroup. 32 A study of Croatian SLE patients (34 with LN) 33 and an Israeli study of SLE patients (24 with LN) did not find an association of the D allele with LN. 34 Careful review of these previous studies in SLE suggests that much of the discordance may be secondary to heterogeneous study designs, power, disease state, phenotype definition and ethnic variability.…”

Section: Ras Gene Polymorphisms and Lupus Nephritismentioning

confidence: 94%

“…Of interest, three studies that used a measure of renal insufficiency and/or non-LN SLE controls, analogous to our study, found significant or suggestive associations of the ACE D allele with LN or decreased GFR in LN. 28,31,32 We are not aware of any previous studies that have analyzed Atg variants in LN or SLE.…”

Section: Ras Gene Polymorphisms and Lupus Nephritismentioning

confidence: 99%

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Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

et al. 2005

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The renin-angiotensin system (RAS) is a strong candidate as a mediator for the development and progression of lupus nephritis (LN). We performed an ethnically stratified analysis of 642 systemic lupus erythematosus (SLE) patients to determine whether various functional RAS gene polymorphisms are associated with SLE renal outcomes. Patients were genotyped for two angiotensin-converting enzyme (ACE) gene polymorphisms: Alu insertion/deletion (I/D) and 23 949 (CT) 2/3 , and for two angiotensinogen (Atg) gene polymorphisms: M235T and C-532T. Multivariate analyses demonstrated associations between the ACE I/D, ACE (CT) 2/3 and Atg C-532T functional polymorphisms and LN among Asians. In stratified analyses among LN cases according to high vs low glomerular filtration rate (GFR), associations remained significant for the ACE D (odds ratio (OR) 5.9, P ¼ 0.001) and (CT) 2 (OR 6.2, P ¼ 0.001) alleles among Asian subjects with low GFR. Lastly, we found allelic dosedependent associations between the ACE I/D (P ¼ 0.003), ACE (CT) 2/3 (P ¼ 0.005) and Atg M235T (P ¼ 0.04) polymorphisms, and GFR analyzed as a continuous variable among Asians. These findings suggest a significant role for ACE and Atg gene sequence variation and severity of LN among Asians with SLE.

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Section: Discussionsupporting

confidence: 82%

Section: Ras Gene Polymorphisms and Lupus Nephritismentioning

confidence: 63%

Section: Ras Gene Polymorphisms and Lupus Nephritismentioning

confidence: 94%

Section: Ras Gene Polymorphisms and Lupus Nephritismentioning

confidence: 99%

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Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

et al. 2005

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“…The results of studies examining the association of the I/D polymorphism of the ACE gene with susceptibility to lupus are conflicting. Some (75,76) have shown an increased, whereas another (77) has demonstrated a decreased, frequency of the D/D genotype in SLE; 1 study (78) showed an increased frequency of the I/I genotype, whereas others (79)(80)(81)(82) demonstrated no difference at all.…”

Section: Possible Biomarkers In Sle: Genetic Markers Of Susceptibilitmentioning

confidence: 99%

Biomarkers in systemic lupus erythematosus: I. General overview of biomarkers and their applicability

Illei¹,

Tackey²,

Lapteva³

et al. 2004

Arthritis & Rheumatism

109

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A meta-analysis of the association between cytokine gene polymorphisms and systemic sclerosis

et al. 2011

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We conducted a comprehensive meta-analysis to quantitatively evaluate the association of cytokine gene polymorphisms with systemic sclerosis (SSc) susceptibility. Electronic databases were used to identify published studies before July 2011. In total, 23 case-control studies including 3524 SSc cases and 6086 healthy controls were included in the meta-analysis. We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc. The combined odds ratio (OR) with 95% confidence interval (95% CI) was calculated to estimate the strength of the association in a fixed or random effect model. Heterogeneity and publication bias were also assessed. We found a significant association between SSc and STAT rs7574865 (TT vs. GG: OR 0.44, 95% CI 0.36-0.54; TT vs. TG + GG: OR 0.48, 95% CI 0.39-0.59; TT + TG vs. GG: OR 0.74, 95% CI 0.66-0.83; T vs. G: OR 0.72, 95% CI 0.66-0.79), but there were no other statistically significant associations with other gene polymorphisms. Our study suggested that SSc is associated with STAT gene rs7574865 polymorphism.

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Linkage analysis of angiotensin-converting enzyme (ACE) insertion/deletion polymorphism and systemic lupus erythematosus

Cited by 47 publications

References 14 publications

Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

Renin–angiotensin system gene polymorphisms predict the progression to renal insufficiency among Asians with lupus nephritis

Biomarkers in systemic lupus erythematosus: I. General overview of biomarkers and their applicability

A meta-analysis of the association between cytokine gene polymorphisms and systemic sclerosis

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