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Genetics of Ossification of the Posterior Longitudinal Ligament of the Spine: A Mini Review
Shiro Ikegawa 대한골대사학회 2014 대한골대사학회지 Vol.21 No.2
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common dis-ease in aging populations and sometimes results in serious neurological problems dueto compression of the spinal cord and nerve roots. OPLL is a multi-factorial (polygenic)disease controlled by genetic and environmental factors. Studies searching for the ge-netic component of OPLL, using linkage and association analyses, are in progress andseveral susceptibility genes have been reported. This paper reviews the recent progressin the genetic study of OPLL and comments on its future task.
A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going
Ikegawa, Shiro Korea Genome Organization 2012 Genomics & informatics Vol.10 No.4
Recent rapid advances in genetic research are ushering us into the genome sequence era, where an individual's genome information is utilized for clinical practice. The most spectacular results of the human genome study have been provided by genome-wide association studies (GWASs). This is a review of the history of GWASs as related to my work. Further efforts are necessary to make full use of its potential power to medicine.
A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going
Shiro Ikegawa 한국유전체학회 2012 Genomics & informatics Vol.10 No.4
Recent rapid advances in genetic research are ushering us into the genome sequence era, where an individual’s genome information is utilized for clinical practice. The most spectacular results of the human genome study have been provided by genome-wide association studies (GWASs). This is a review of the history of GWASs as related to my work. Further efforts are necessary to make full use of its potential power to medicine.
Replication of Caucasian Loci Associated with Osteoporosis-related Traits in East Asians
김범준,안성희,김현목,Shiro Ikegawa,Tie-Lin Yang,Yan Guo,Hong-Wen Deng,고정민,이승훈 대한골대사학회 2016 대한골대사학회지 Vol.23 No.4
Background: Most reported genome-wide association studies (GWAS) seeking to identify the loci of osteoporosis-related traits have involved Caucasian populations. We aimed to identify the single nucleotide polymorphisms (SNPs) of osteoporosis-related traits among East Asian populations from the bone mineral density (BMD)-related loci of an earlier GWAS meta-analysis. Methods: A total of 95 SNPs, identified at the discovery stage of the largest GWAS meta-analysis of BMD, were tested to determine associations with osteoporosis-related traits (BMD, osteoporosis, or fracture) in Korean subjects (n=1,269). The identified SNPs of osteoporosis-related traits in Korean subjects were included in the replication analysis using Chinese (n=2,327) and Japanese (n=768) cohorts. Results: A total of 17 SNPs were associated with low BMD in Korean subjects. Specifically, 9, 6, 9, and 5 SNPs were associated with the presence of osteoporosis, non-vertebral fractures, vertebral fractures, and any fracture, respectively. Collectively, 35 of the 95 SNPs (36.8%) were associated with one or more osteoporosis-related trait in Korean subjects. Of the 35 SNPs, 19 SNPs (54.3%) were also associated with one or more osteoporosis-related traits in East Asian populations. Twelve SNPs were associated with low BMD in the Chinese and Japanese cohorts. Specifically, 3, 4, and 2 SNPs were associated with the presence of hip fractures, vertebral fractures, and any fracture, respectively. Conclusions: Our results identified the common SNPs of osteoporosis-related traits in both Caucasian and East Asian populations. These SNPs should be further investigated to assess whether they are true genetic markers of osteoporosis.
Meta-analysis identifies a <i>MECOM</i> gene as a novel predisposing factor of osteoporotic fracture
Hwang, Joo-Yeon,Lee, Seung Hun,Go, Min Jin,Kim, Beom-Jun,Kou, Ikuyo,Ikegawa, Shiro,Guo, Yan,Deng, Hong-Wen,Raychaudhuri, Soumya,Kim, Young Jin,Oh, Ji Hee,Kim, Youngdoe,Moon, Sanghoon,Kim, Dong-Joon,Ko BMJ Publishing Group Ltd 2013 Journal of medical genetics Vol.50 No.4
<P><B>Background</B></P><P>Osteoporotic fracture (OF) as a clinical endpoint is a major complication of osteoporosis. To screen for OF susceptibility genes, we performed a genome-wide association study and carried out de novo replication analysis of an East Asian population.</P><P><B>Methods</B></P><P>Association was tested using a logistic regression analysis. A meta-analysis was performed on the combined results using effect size and standard errors estimated for each study.</P><P><B>Results</B></P><P>In a combined meta-analysis of a discovery cohort (288 cases and 1139 controls), three hospital based sets in replication stage I (462 cases and 1745 controls), and an independent ethnic group in replication stage II (369 cases and 560 for controls), we identified a new locus associated with OF (<I>rs784288</I> in the <I>MECOM</I> gene) that showed genome-wide significance (p=3.59×10<SUP>−8</SUP>; OR 1.39). RNA interference revealed that a <I>MECOM</I> knockdown suppresses osteoclastogenesis.</P><P><B>Conclusions</B></P><P>Our findings provide new insights into the genetic architecture underlying OF in East Asians.</P>
Kim, Ok‐,Hwa,Park, Hyunwoong,Seong, Moon‐,Woo,Cho, Tae‐,Joon,Nishimura, Gen,Superti‐,Furga, Andrea,Unger, Sheila,Ikegawa, Shiro,Choi, In Ho,Song, Hae‐,Ryong,Kim, Hyun Woo Wiley Subscription Services, Inc., A Wiley Company 2011 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Vol.a155 No.11
<P><B>Abstract</B></P><P>Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous group of diseases characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. The purpose of this study was to investigate the frequency of mutations in individuals with a clinical and radiographic diagnosis of MED and to test the hypothesis that characteristic radiological findings may be helpful in predicting the gene responsible. The radiographs of 74 Korean patients were evaluated by a panel of skeletal dysplasia experts. Six genes known to be associated with MED (<I>COMP</I>, <I>MATN3</I>, <I>COL9A1</I>, <I>COL9A2</I>, <I>COL9A3</I>, and <I>DTDST</I>) were screened by sequencing. Mutations were found in 55 of the 63 patients (87%). <I>MATN3</I> mutations were found in 30 patients (55%), followed by <I>COMP</I> mutations in 23 (41%), and <I>COL9A2</I> and <I>DTDST</I> mutations in one patient (2%) each. Comparisons of radiographic findings in patients with <I>COMP</I> and <I>MATN3</I> mutations showed that albeit marked abnormalities in hip and knee joints were observed in both groups, the degree of involvement and the morphology of dysplastic epiphyses differed markedly. The contour of the pelvic acetabulum, the presence of metaphyseal vertical striations, and/or the brachydactyly of the hand were also found to be highly correlated with the genotypes. The study confirms that <I>MATN3</I> and <I>COMP</I> are the genes most frequently responsible for MED and that subtle radiographic signs may give precious indications on which gene(s) should be prioritized for mutational screening in a given individual. © 2011 Wiley Periodicals, Inc.</P>
Kim, Ok-Hwa,Nishimura, Gen,Song, Hae-Ryong,Matsui, Yoshito,Sakazume, Satoru,Yamada, Masanobu,Narumi, Yoko,Alanay, Yasemin,Unger, Sheila,Cho, Tae-Joon,Park, Sung Sup,Ikegawa, Shiro,Meinecke, Peter,Supe Wiley Subscription Services, Inc., A Wiley Company 2010 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Vol.a152 No.4
<P>We present the clinical and radiological findings of seven patients with a seemingly new variant of Desbuquois dysplasia (DBQD) and emphasize the radiographic findings in the hand. All cases showed remarkably accelerated carpal bone ages in childhood, but none of the patients had an accessory ossification center distal to the second metacarpal, or thumb anomalies, instead, there was shortness of one or all metacarpals, with elongated appearance of phalanges, resulting in nearly equal length of the second to fifth fingers. The two sibs followed for 20 years showed narrowing and fusion of the intercarpal joints with age and ultimately, precocious degenerative arthritis. The changes in the feet were similar to those of the hands, with advanced tarsal bone ages, shortness of the metatarsals and elongation of the second and third toes. Other radiographic findings were narrowness of the intervertebral disc spaces resulting in precocious degenerative spondylosis and progressive scoliosis. The femoral neck was short and thick and showed a persistent enlargement of the lesser trochanter with a high-riding, bulbous greater trochanter that became more prominent with age. Molecular testing of the diastrophic dysplasia sulfate transporter (DTDST) gene was performed on six patients and no mutations were detected. This radiographic and clinical observation further adds to the evidence that there may be subtypes of DBQD. Long-term follow-up showed that severe precocious osteoarthritis of the hand and spine is a major manifestation of this specific variant. © 2010 Wiley-Liss, Inc.</P>