BIOMAT Database Logo BIOMAT Database Logo

A missense single nucleotide polymorphism in the ALDH2 gene, rs671, is associated with hip fracture. 2017

Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-machi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Hip fracture is the most severe bone fragility fracture among osteoporotic injuries. Family history is a known risk factor for fracture and now included among criteria for osteoporosis diagnosis and treatment; however, genetic factors underlying family history favoring fracture remain to be elucidated. Here we demonstrate that a missense SNP in the ALDH2 gene, rs671 (ALDH2*2), is significantly associated with hip fracture (odds ratio = 2.48, 95% confidence interval: 1.20-5.10, p = 0.021). The rs671 SNP was also significantly associated with osteoporosis development (odds ratio = 2.04, 95% confidence interval: 1.07-3.88, p = 0.040). For analysis we enrolled 92 hip fracture patients plus 48 control subjects without bone fragility fractures with higher than -2.5 SD bone mineral density. We also recruited 156 osteoporosis patients diagnosed as below -2.5 SD in terms of bone mineral density but without hip fracture. Association of rs671 with hip fracture and osteoporosis was significant even after adjustment for age and body mass index. Our results provide new insight into the pathogenesis of hip fracture.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D005260 Female Females
D006620 Hip Fractures Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES). Femoral Trochlear Fractures,Intertrochanteric Fractures,Subtrochanteric Fractures,Trochanteric Fractures,Trochlear Fractures, Femur,Femoral Trochlear Fracture,Femur Trochlear Fracture,Femur Trochlear Fractures,Fracture, Femoral Trochlear,Fracture, Femur Trochlear,Fractures, Femoral Trochlear,Fractures, Femur Trochlear,Fractures, Hip,Fractures, Intertrochanteric,Fractures, Subtrochanteric,Fractures, Trochanteric,Trochlear Fracture, Femoral,Trochlear Fracture, Femur,Trochlear Fractures, Femoral
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071396 Aldehyde Dehydrogenase, Mitochondrial An aldehyde dehydrogenase expressed in the mitochondrial matrix that is essential for the metabolism of ETHANOL. ALDH2 Protein,Dehydrogenase, Mitochondrial Aldehyde,Mitochondrial Aldehyde Dehydrogenase
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D000369 Aged, 80 and over Persons 80 years of age and older. Oldest Old
D020022 Genetic Predisposition to Disease A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic
D020125 Mutation, Missense A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) Missense Mutation,Missense Mutations,Mutations, Missense
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

Related Publications

Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
The ALDH2 gene rs671 polymorphism is not associated with essential hypertension.
January 2017, Clinical and experimental hypertension (New York, N.Y. : 1993),
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
The ALDH2 rs671 polymorphism is associated with athletic status and muscle strength in a Japanese population.
March 2022, Biology of sport,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
The ALDH2 gene rs671 polymorphism is associated with cardiometabolic risk factors in East Asian population: an updated meta-analysis.
January 2024, Frontiers in endocrinology,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
ALDH2 Gene rs671 Polymorphism May Decrease the Risk of Essential Hypertension.
May 2020, International heart journal,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
Cortical thickness is differently associated with ALDH2 rs671 polymorphism according to level of amyloid deposition.
September 2021, Scientific reports,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
Association of a Missense ALDH2 Single Nucleotide Polymorphism (Glu504Lys) With Benign Prostate Hyperplasia in a Korean Population.
December 2013, International neurourology journal,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population.
November 2015, Journal of bone and mineral metabolism,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
August 2004, American journal of human genetics,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
A Novel Missense Single Nucleotide Polymorphism in the GREM1 Gene is Highly Associated with Higher Reproductive Traits in Awassi Sheep.
April 2021, Biochemical genetics,
Kenichiro Takeshima, and Yuji Nishiwaki, and Yasunori Suda, and Yasuo Niki, and Yuiko Sato, and Tami Kobayashi, and Kana Miyamoto, and Hisaya Uchida, and Wataru Inokuchi, and Takashi Tsuji, and Atsushi Funayama, and Masaya Nakamura, and Morio Matsumoto, and Yoshiaki Toyama, and Takeshi Miyamoto
A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.
January 2014, Endocrine journal,
Copied contents to your clipboard!