No Association of LOXL1 Gene Polymorphisms with Alzheimer’s Disease

Abramsson, Alexandra; Landgren, Sara; Zetterberg, Madeleine; Palmér, Mona Seibt; Minthon, Lennart; Gustafson, Deborah; Skoog, Ingmar; Blennow, Kaj; Zetterberg, Henrik

doi:10.1007/s12017-011-8144-z

Cited by 16 publications

(10 citation statements)

References 42 publications

(40 reference statements)

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“…27,30 These associations also provide justification for the SIFT and PolyPhen-2 results predicting disease-causing amino acid substitutions based on sequence and structural changes. Similar to our results, other studies of LOXL1 SNPs found no significant association with Alzheimer's disease 31 or adolescent idiopathic scoliosis, 32 despite suggestive evidence from studies of animal models. 33,34 LOXL1's cross-linking elastin has been suggested to be a mechanism for vessel stability and therefore protective during development of vascular disease such as abdominal aortic aneurysm.…”

Section: Discussionsupporting

confidence: 89%

Mutation Screen of LOXL1 in Patients With Female Pelvic Organ Prolapse

Neupane¹,

Sadeghi²,

Fu³

et al. 2014

Female Pelvic Medicine &Amp; Reconstructive Surgery

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Objectives The LOXL1 (lysyl oxidase-like 1) gene encodes a copper-dependent monoamine oxidase that catalyzes the deamination of a lysine residue in the crosslinking of tropoelastin monomers to form elastin. LOXL1-KO mice do not deposit normal elastic fibers in their genitourinary tract resulting in post-partum pelvic organ prolapse and lower urinary tract dysfunction with decreased bladder capacity and lower voiding pressure. We sought to identify which single nucleotide polymorphisms (SNPs) in the LOXL1 coding sequence play a role in female pelvic organ prolapse (FPOP). Methods A total of 66 patients were screened, 48 in the case group and 18 in the control group. The 7 exons of LOXL1 were evaluated for any polymorphisms. Results Three missense sequence changes (Arg141Leu, Gly153Asp, and Ser159Ala) and three silent mutations (Asp292Asp, Ala320Ala, and Ile521Ile) were identified. None of these polymorphisms were found to differ significantly in frequency in the case group compared to the control group. Conclusion Our findings do not support an association of any LOXL1 exonal SNPs with the diagnosis of FPOP.

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Section: Discussionsupporting

confidence: 89%

Mutation Screen of LOXL1 in Patients With Female Pelvic Organ Prolapse

Neupane¹,

Sadeghi²,

Fu³

et al. 2014

Female Pelvic Medicine &Amp; Reconstructive Surgery

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“…In addition, a polymorphism of the LOXL1 gene, which is strongly associated with PEX, is lacking in AD. 31 Therefore, several gene polymorphisms influence a range of diseases of similar groups in different ways, and their effects do not always reflect the molecular mechanisms of the disease.…”

Section: Discussionmentioning

confidence: 99%

Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome

Giannakopoulos

Antonacopoulou

Κοττόρου

et al. 2016

OPTH

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PurposeIn this study we aimed to evaluate the polymorphism at codon 129 (M129V) of the PRNP gene as a secondary risk factor for pseudoexfoliation syndrome (PEX).MethodsTwo hundred and seventy-five unrelated subjects, including 156 patients with PEX and 119 unrelated control subjects, were recruited from the University Hospital of Patras, Greece. All patients and controls were of Caucasian or European ancestry. The PRNP M129V (A/G) single-nucleotide polymorphism was genotyped by real-time polymerase chain reactions. Association of the polymorphism with PEX was assessed using the two-sided Pearson’s chi-squared or Fisher’s exact test.ResultNo significant difference between patients and controls was observed in terms of frequencies of alleles and genotypes of the PRNP gene.ConclusionPolymorphism at M129V of the PRNP gene was evaluated as a secondary risk factor for developing PEX. Our results suggest that this PRNP gene polymorphism is not associated with PEX.

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“…) populations, Alzheimer's disease in a Swedish population (Abramsson et al. ), and cardiovascular disease in a Hungarian population (Hollo et al. ), although none, except for the study of Fuse et al.…”

Section: Discussionmentioning

confidence: 99%

“…) and systemic (Abramsson et al. ; Hollo et al. ) pathologies to determine an association between EX and these pathologies, some suggesting that LOXL1 variants may be disease markers for EX.…”

Section: Introductionmentioning

confidence: 99%

Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits

Tanito

Hara

Akahori

et al. 2014

Acta Ophthalmologica

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ABSTRACT.Purpose: A possible association has been reported between exfoliation syndrome (EX) and various ocular and systemic vascular disorders; however, it is unclear if there is an association between EX and central retinal vein occlusion (CRVO). Because latent deposits of exfoliation materials might not be recognized during slit-lamp examination, an ocular biopsy is required to establish a precise diagnosis. We evaluated a possible association between EX and CRVO using lysyl oxidase-like 1 (LOXL1) gene variants as alternative markers for EX. Methods: The allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EXÀ)] and 90 control patients with cataract without EX (CT). Results: The frequencies of the rs1048661 and rs3825942 variants showed borderline difference between the CRVO and CT groups (p = 0.04085 and p = 0.06088, respectively, for allelic frequencies, and p = 0.06838 and p = 0.03482, respectively, for genotypic frequencies). Compared with the CT group, subgroup analysis showed that the CRVO EX+ group had significant differences in the allelic and genotypic frequencies of rs1048661 (p = 0.0006447 and p = 0.0001392, respectively) and had borderline differences in the allelic and genotypic frequencies of rs3825942 (p = 0.03403 and p = 0.07341, respectively), while the CRVO EXÀ group did not (p = 0.1324-0.6306). Subgroup analysis showed that the frequencies of rs2165241 did not differ between the CRVO and CT groups. Conclusions: When the LOXL1 variants were used as disease markers for clinically undetectable EX, there was no association between CRVO and EX. The results suggested that the LOXL1 variants, which are well-established markers for EX, are not likely genetic markers for CRVO in Japanese subjects.

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No Association of LOXL1 Gene Polymorphisms with Alzheimer’s Disease

Cited by 16 publications

References 42 publications

Mutation Screen of LOXL1 in Patients With Female Pelvic Organ Prolapse

Mutation Screen of LOXL1 in Patients With Female Pelvic Organ Prolapse

Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome

Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits

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