| Title |
Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms
|
|---|---|
| Published in |
Human Genetics, February 2007
|
| DOI | 10.1007/s00439-007-0333-3 |
| Pubmed ID | |
| Authors |
Hiroyuki Akagawa, Akira Narita, Haruhiko Yamada, Atsushi Tajima, Boris Krischek, Hidetoshi Kasuya, Tomokatsu Hori, Motoo Kubota, Naokatsu Saeki, Akira Hata, Tohru Mizutani, Ituro Inoue |
| Abstract |
Four lysyl oxidase family genes (LOXL1, LOXL2, LOXL3, and LOXL4), which catalyze cross-linking of collagen and elastin, were considered to be functional candidates for intracranial aneurysms (IA) and were extensively screened for genetic susceptibility in Japanese IA patients. Total RNA was isolated from four paired ruptured IA and superficial temporal artery (STA) tissue and examined by real-time RT-PCR. The expression of LOXL2 in the paired IA and STA tissues was elevated in the IA tissue. A total of 55 single nucleotide polymorphisms (SNPs) of LOXL1-4 were genotyped for an allelic association study in 402 Japanese IA patients and 462 Japanese non-IA controls. Allelic associations were evaluated with the chi-square test and the permutation test especially designed for adjustment of multiple testing. SNPs of LOXL1 and LOXL4 were not significantly associated with IA, while several SNPs of LOXL2 and LOXL3 showed nominally significant associations in IA patients. We detected an empirically significant association with one SNP of LOXL2 in familial IA patients after adjustment for multiple testing [chi(2) = 10.23, empirical P = 0.023, OR (95% CI) = 1.49 (1.17, 1.90)]. Furthermore, multilocus interaction was evaluated by multifactor dimensionality reduction analysis. We found that the SNPs of LOXL2 have an interactive effect with elastin (ELN) and LIM kinase 1 (LIMK1) that have been previously found to be associated with IA. In conclusion, one SNP of LOXL2 showed a significant association with IA individually, and we also detected a gene-gene interaction of LOXL2 with ELN/LIMK1, which may play an important role in susceptibility to IA. |
Mendeley readers
The data shown below were compiled from readership statistics for 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 3% |
| United States | 1 | 3% |
| Unknown | 34 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 22% |
| Student > Ph. D. Student | 6 | 17% |
| Researcher | 4 | 11% |
| Professor | 3 | 8% |
| Student > Bachelor | 2 | 6% |
| Other | 7 | 19% |
| Unknown | 6 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 9 | 25% |
| Medicine and Dentistry | 9 | 25% |
| Biochemistry, Genetics and Molecular Biology | 7 | 19% |
| Nursing and Health Professions | 1 | 3% |
| Unspecified | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 8 | 22% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 April 2008.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from Human Genetics
#933
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Outputs of similar age
#43,706
of 160,555 outputs
Outputs of similar age from Human Genetics
#6
of 17 outputs
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