Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

Keisuke Mori; Kuniko Horie-Inoue; Masakazu Kohda; Izumi Kawasaki; Peter L. Gehlbach; Takuya Awata; Shin Yoneya; Yasushi Okazaki; Satoshi Inoue

doi:10.1007/s10038-007-0162-1

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

Keisuke Mori, Kuniko Horie-Inoue, Masakazu Kohda, Izumi Kawasaki, Peter L. Gehlbach, Takuya Awata, Shin Yoneya, Yasushi Okazaki, Satoshi Inoue

School of Medicine

Research output: Contribution to journal › Article › peer-review

44 Scopus citations

Abstract

The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75×10 ^-6). The results were more significant in subtype analyses with wet AMD (p=5.96×10^-7). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.

Original language	English (US)
Pages (from-to)	636-641
Number of pages	6
Journal	Journal of Human Genetics
Volume	52
Issue number	7
DOIs	https://doi.org/10.1007/s10038-007-0162-1
State	Published - Jun 2007

Keywords

Age-related macular degeneration
High-temperature requirement A-1 (HTRA1)
Japanese population
Single-nucleotide polymorphism
Smoking

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1007/s10038-007-0162-1

Cite this

@article{5fd85601972848e897ef3cfbb294d1f2,

title = "Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population",

abstract = "The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75×10 -6). The results were more significant in subtype analyses with wet AMD (p=5.96×10-7). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.",

keywords = "Age-related macular degeneration, High-temperature requirement A-1 (HTRA1), Japanese population, Single-nucleotide polymorphism, Smoking",

author = "Keisuke Mori and Kuniko Horie-Inoue and Masakazu Kohda and Izumi Kawasaki and Gehlbach, {Peter L.} and Takuya Awata and Shin Yoneya and Yasushi Okazaki and Satoshi Inoue",

year = "2007",

month = jun,

doi = "10.1007/s10038-007-0162-1",

language = "English (US)",

volume = "52",

pages = "636--641",

journal = "Journal of Human Genetics",

issn = "1434-5161",

publisher = "Nature Publishing Group",

number = "7",

}

TY - JOUR

T1 - Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

AU - Mori, Keisuke

AU - Horie-Inoue, Kuniko

AU - Kohda, Masakazu

AU - Kawasaki, Izumi

AU - Gehlbach, Peter L.

AU - Awata, Takuya

AU - Yoneya, Shin

AU - Okazaki, Yasushi

AU - Inoue, Satoshi

PY - 2007/6

Y1 - 2007/6

N2 - The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75×10 -6). The results were more significant in subtype analyses with wet AMD (p=5.96×10-7). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.

AB - The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75×10 -6). The results were more significant in subtype analyses with wet AMD (p=5.96×10-7). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.

KW - Age-related macular degeneration

KW - High-temperature requirement A-1 (HTRA1)

KW - Japanese population

KW - Single-nucleotide polymorphism

KW - Smoking

UR - http://www.scopus.com/inward/record.url?scp=34347326088&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34347326088&partnerID=8YFLogxK

U2 - 10.1007/s10038-007-0162-1

DO - 10.1007/s10038-007-0162-1

M3 - Article

C2 - 17568988

AN - SCOPUS:34347326088

SN - 1434-5161

VL - 52

SP - 636

EP - 641

JO - Journal of Human Genetics

JF - Journal of Human Genetics

IS - 7

ER -

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this