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Thread: Korean mtDNA

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    Korean mtDNA

    In Wook Hwang, Kicheol Kim, Eun Ji Choi, and Han Jun Jin, "Association of mitochondrial haplogroup F with physical performance in Korean population." Genomics & Informatics 2019; 17(1): e11. Published online: March 31, 2019. DOI: https://doi.org/10.5808/GI.2019.17.1.e11

    We analyzed a total of 111 athletes (85 males and 26 females) enrolled in College of Sports Science at Dankook University in Cheonan, Korea (Table 1). The athlete group included subjects who participated in basketball, climbing, rugby, soccer, golf, baseball, ssireum, rowing, speed skating, short track, soft ball, tennis, soft tennis, marathon, running, judo, badminton, swimming, horse-riding, weight lifting, aerobics, jazz dance, body building, rhythmic gymnastics, squash, taekwondo, shooting, and futsal. The control group involved a total of randomly selected (therefore, likely to be unrelated) 145 subjects (72 males, 73 females) among students of College of Natural Science at Dankook University; none were regularly trained for athletics or had success in any official competitions.
    Athletes (85 males and 26 females) enrolled in College of Sports Science at Dankook University in Cheonan, Korea
    9/111 = 8.1% A
    15/111 = 13.5% B4
    4/111 = 3.6% B5
    20/111 = 18.1% D4(xD4a, D4b)
    5/111 = 4.5% D4a
    1/111 = 0.9% D4b
    7/111 = 6.3% D5
    14/111 = 12.6% F
    6/111 = 5.4% G
    1/111 = 0.9% M
    11/111 = 9.9% M7
    5/111 = 4.5% M8
    2/111 = 1.8% M9
    3/111 = 2.7% M10
    7/111 = 6.3% N9a
    1/111 = 0.9% Y

    Randomly selected students of College of Natural Science at Dankook University
    17/145 = 11.7% A
    16/145 = 11.0% B4
    7/145 = 4.8% B5
    33/145 = 22.8% D4(xD4a, D4b)
    11/145 = 7.6% D4a
    7/145 = 4.8% D4b
    9/145 = 6.2% D5
    6/145 = 4.1% F
    7/145 = 4.8% G
    13/145 = 9.0% M7
    8/145 = 5.5% M8
    1/145 = 0.7% M9
    1/145 = 0.7% M10
    1/145 = 0.7% M11
    5/145 = 3.4% N9a
    3/145 = 2.1% Y

    Dankook University total
    26/256 = 10.2% A

    31/256 = 12.1% B4
    11/256 = 4.3% B5
    42/256 = 16.4% B total

    53/256 = 20.7% D4(xD4a, D4b)
    16/256 = 6.3% D4a
    8/256 = 3.1% D4b
    77/256 = 30.1% D4 total
    16/256 = 6.3% D5
    93/256 = 36.3% D total

    20/256 = 7.8% F

    13/256 = 5.1% G

    1/256 = 0.4% M(xD, G, M7, M8, M9, M10, M11)
    24/256 = 9.4% M7
    13/256 = 5.1% M8
    3/256 = 1.2% M9
    4/256 = 1.6% M10
    1/256 = 0.4% M11

    12/256 = 4.7% N9a
    4/256 = 1.6% Y

    Bon San Koo, Yoonah Song, Seunghun Lee, Yoon-Kyoung Sung, Kyoung-Jin Shin, Nam H. Cho, and Jae-Bum Jun, "Analysis of Asian Mitochondrial DNA Haplogroups Associated With the Progression of Knee Osteoarthritis in Koreans." Journal of Rheumatic Diseases 2020; 27(3): 168-173. https://doi.org/10.4078/jrd.2020.27.3.168

    As described in our previous study [Koo BS, Song Y, Lee S, Sung YK, Shin KJ, Cho NH, et al. "Association of Asian mitochondrial DNA haplogroup B with new development of knee osteoarthritis in Koreans." Int J Rheum Dis 2019;22:411-6.], we used the Ansung cohort of an ongoing, prospective cohort study that is part of the Korean Genome and Epidemiology Study.
    30/309 = 9.71% A
    49/309 = 15.86% B

    1/309 = 0.32% D(xD4, D5)
    31/309 = 10.03% D4(xD4a, D4b, D4e)
    18/309 = 5.83% D4a
    3/309 = 0.97% D4b(xD4b2)
    20/309 = 6.47% D4b2
    5/309 = 1.62% D4j
    11/309 = 3.56% D4e
    1/309 = 0.32% D4a/D4b
    25/309 = 8.09% D5
    115/309 = 37.2% D total

    28/309 = 9.06% F
    19/309 = 6.15% G
    3/309 = 0.97% M(xD, G, M7, M8, M9, M10)
    21/309 = 6.80% M7
    19/309 = 6.15% M8
    5/309 = 1.62% M9
    2/309 = 0.65% M10
    18/309 = 5.83% N9

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    cf. Jungeun Kim, Sungwon Jeon, Jae-Pil Choi, et al., "The Origin and Composition of Korean Ethnicity Analyzed by Ancient and Present-Day Genome Sequences." Genome Biol Evol. 2020 May; 12(5): 553–565. Published online 2020 Mar 27. doi: 10.1093/gbe/evaa062

    High-resolution mtDNA haplogroup assignments of 88 Korean samples from the KoVariome database

    1/88 A
    1/88 A+152+16362
    2/88 A+152+16362+200
    1/88 A3
    1/88 A5a
    1/88 A5a1
    1/88 A5a1a1b
    1/88 B4a1c3a
    1/88 B4a1c3b
    1/88 B4b1a2
    1/88 B4c1b1
    1/88 B4d3a1
    1/88 B5a2a1b
    1/88 B5b1
    1/88 [email protected]
    1/88 B5b3a
    1/88 C4a1a
    1/88 C4a1a+195
    1/88 C4a2a1
    1/88 C4a2b
    1/88 C7
    2/88 C7a1c
    1/88 D4
    1/88 D4a
    2/88 D4a1
    1/88 D4a1b
    1/88 D4a2
    1/88 D4b1a
    1/88 D4b1a1a
    1/88 D4b2b
    2/88 D4b2b6
    1/88 D4b2d
    1/88 D4d
    1/88 D4e
    1/88 D4e1a2a
    1/88 D4e2a
    2/88 D4f1
    1/88 D4g1
    1/88 D4j
    1/88 D4j3a
    2/88 D4k
    1/88 D5a2a1
    3/88 D5b1a1
    1/88 D5b1b
    1/88 D5b1b2
    1/88 D6a1
    3/88 F1a1
    1/88 F1b1a
    1/88 F1b1a1a1
    1/88 F1b1d
    2/88 G1a1a
    2/88 G2a1+16189
    1/88 G2a1e
    1/88 G2a5
    2/88 G3a2a
    1/88 M7a1a
    2/88 M7a1a7
    1/88 M7b1a1a
    1/88 M7b1a1a1
    2/88 M7b1a1a1b
    1/88 M9a4b
    1/88 M10a1b
    1/88 M11a
    1/88 N9a1
    1/88 N9a2a
    1/88 N9a2a2
    1/88 N9a5
    2/88 R11b
    2/88 Y1
    2/88 Z3

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    Quote Originally Posted by Ebizur View Post
    In Wook Hwang, Kicheol Kim, Eun Ji Choi, and Han Jun Jin, "Association of mitochondrial haplogroup F with physical performance in Korean population." Genomics & Informatics 2019; 17(1): e11. Published online: March 31, 2019. DOI: https://doi.org/10.5808/GI.2019.17.1.e11

    Athletes (85 males and 26 females) enrolled in College of Sports Science at Dankook University in Cheonan, Korea
    9/111 = 8.1% A
    15/111 = 13.5% B4
    4/111 = 3.6% B5
    20/111 = 18.1% D4(xD4a, D4b)
    5/111 = 4.5% D4a
    1/111 = 0.9% D4b
    7/111 = 6.3% D5
    14/111 = 12.6% F
    6/111 = 5.4% G
    1/111 = 0.9% M
    11/111 = 9.9% M7
    5/111 = 4.5% M8
    2/111 = 1.8% M9
    3/111 = 2.7% M10
    7/111 = 6.3% N9a
    1/111 = 0.9% Y

    Randomly selected students of College of Natural Science at Dankook University
    17/145 = 11.7% A
    16/145 = 11.0% B4
    7/145 = 4.8% B5
    33/145 = 22.8% D4(xD4a, D4b)
    11/145 = 7.6% D4a
    7/145 = 4.8% D4b
    9/145 = 6.2% D5
    6/145 = 4.1% F
    7/145 = 4.8% G
    13/145 = 9.0% M7
    8/145 = 5.5% M8
    1/145 = 0.7% M9
    1/145 = 0.7% M10
    1/145 = 0.7% M11
    5/145 = 3.4% N9a
    3/145 = 2.1% Y
    According to Wikipedia, Dankook University's College of Natural Science is located on their Jukjeon Campus in Yongin, Gyeonggi Province, South Korea. Therefore, these two samples from Dankook University probably have been collected at two different sampling locations. However, the municipalities in which the two campuses of Dankook University are located (Cheonan, South Chungcheong Province and Yongin, Gyeonggi Province) are separated only by the city of Anseong (Ansung), so they are quite close to each other, and the sampled individuals likely have originated from various locations in South Korea.

    The following is a new sample of Koreans collected in Seoul:

    cf. Yeonmi Lee, Sun-Mi Lee, Jiwan Choi, et al., "Mitochondrial DNA Haplogroup Related to the Prevalence of Helicobacter pylori." Cells 2021, 10, 2482. https://doi.org/10.3390/cells10092482.

    2. Materials and Methods
    2.1. Subjects and Sample Collection
    All subjects were recruited from Asan Medical Center, Seoul, Korea. Written informed
    consent was obtained from each subject. Two mucosal biopsy specimens from 43 subjects,
    45–78-year-old of Korean people, were obtained from the gastric antrum and corpus greater
    curvature using standard-sized biopsy forceps during endoscopy. The H. pylori test was
    performed on both the antrum and body because the H. pylori positivity rate in the antrum
    and body may be different depending on the patient’s gastric acid secretion level. The
    positive or negative of H. pylori in mucosal biopsy specimens were confirmed by culturing
    on Brucella broth agar. This study was approved by the Institutional Review Board for
    Human Research at Asan Medical Center (IRB number: 2020-0108).
    1/43 A
    1/43 B4a
    1/43 B4b
    2/43 B4c
    2/43 B5a
    3/43 B5b
    1/43 C
    2/43 D4a
    2/43 D4b
    1/43 D4f
    1/43 D4g
    1/43 D4h
    2/43 D4i
    2/43 D4j
    1/43 D5a
    2/43 F1a
    1/43 F1b
    1/43 G1a
    1/43 G2a
    2/43 G3a
    4/43 M7b
    2/43 M7c
    1/43 M8a
    1/43 M9a
    2/43 M10a
    3/43 N9a

    South_Chungcheong-Cheonan annotated.png

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    cf. In Wook Hwang, Bit Na Kwon, Hyung Jun Kim, Seung Hun Han, Noo Ri Lee, Myung Ho Lim, Ho Jang Kwon, and Han Jun Jin, "Assessment of associations between mitochondrial DNA haplogroups and attention deficit and hyperactivity disorder in Korean children." Mitochondrion 47:174-178 (2019 Jul). doi: 10.1016/j.mito.2018.11.003. Epub 2018 Nov 10.

    28/472 = 5.93% A
    51/472 = 10.81% B4
    18/472 = 3.81% B5
    41/472 = 8.69% F

    27/472 = 5.72% N9a
    12/472 = 2.54% Y
    1/472 = 0.21% N9(xN9a, Y)
    2/472 = 0.42% N*

    180/472 = 38.14% N total

    40/472 = 8.47% D4a
    26/472 = 5.51% D4b
    76/472 = 16.10% D4(xD4a, D4b)
    24/472 = 5.08% D5
    166/472 = 35.17% D total

    40/472 = 8.47% G
    42/472 = 8.90% M7
    23/472 = 4.87% M8'CZ
    9/472 = 1.91% M9
    7/472 = 1.48% M10
    2/472 = 0.42% M11
    3/472 = 0.64% M*

    292/472 = 61.86% M total

    We analyzed a total of 472 children who were collected from the Children’s
    Health and Environmental Research (CHEER) cohort study (Ha et al., 2009)
    and the study of Kwon et al. (2014). Of these, 120 Children with ADHD and
    322 controls were recruited from the CHEER cohort study and 30 Children with
    ADHD were recruited from a subset of Kwon et al.’s study (2014). The CHEER
    study was conducted from 2005 to 2010. The participants in the survey included
    elementary school children from 10 cities in Korea, and they were followed up
    biennially. An interview was randomly conducted with children using the
    Korean version of the Dupaul Attention Deficit Hyperactivity Disorder Rating
    Scales (K-ARS) (Kim et al., 2002), including 18 items based on the DSM-IV
    diagnostic criteria for ADHD.
    Ha, M., Kwon, H.J., Lim, M.H., Jee, Y.K., Hong, Y.C., Leem, J.H., Sakong, J.,
    Bae, J.M., Hong, S.J., Roh, Y.M., Jo, S.J., 2009. Low blood levels of lead
    and mercury and symptoms of attention deficit hyperactivity in children: a
    report of the children's health and environment research (CHEER).
    Neurotoxicology. 30, 31-6.
    Kwon, H.J., Jin, H.J., Lim, M.H., 2014. Association between monoamine
    oxidase gene polymorphisms and attention deficit hyperactivity disorder in
    Korean children. Genet. Test. Mol. Biomarkers. 18, 505-509.

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    cf. Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski, Galina Denisova, Irina Dambueva, Maria Perkova, Choduraa Dorzhu, Faina Luzina, Hong Kyu Lee, Tomas Vanecek, Richard Villems, and Ilia Zakharov, "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations." Am. J. Hum. Genet. 2007; 81:1025–1041. DOI: 10.1086/522933

    Koreans from South Korea
    3/103 = 2.9% A4
    4/103 = 3.9% A5
    13/103 = 12.6% B4
    8/103 = 7.8% B5
    1/103 = 1.0% C(xC1, C4, C5)
    33/103 = 32.0% D4
    8/103 = 7.8% D5
    5/103 = 4.9% F1
    2/103 = 1.9% G1
    3/103 = 2.9% G2a
    2/103 = 1.9% G3
    10/103 = 9.7% M7
    5/103 = 4.9% M8a2
    2/103 = 1.9% M9a
    1/103 = 1.0% Y
    3/103 = 2.9% N9a

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    cf. Wook Kim, Tag-Keun Yoo, Dong-Jik Shin, Hyun-Wook Rho, Han-Jun Jin, Eun-Tak Kim, and Yoon-Sun Bae (2008), "Mitochondrial DNA Haplogroup Analysis Reveals no Association between the Common Genetic Lineages and Prostate Cancer in the Korean Population." PLoS ONE 3(5): e2211. doi:10.1371/journal.pone.0002211

    Patients and controls
    We analyzed a total of 139 Korean prostate cancer patients, who were recruited for the study from the urology department of the Eulji University School of Medicine in Seoul and Daejeon, Korea. The DNA samples included subsets of the samples examined by Kim et al. [16]. Histological classification of prostate cancer was determined according to the World Health Organization (WHO) recommendations and the Gleason pattern (Table 1). Prostate cancer tissue specimens from all of the patients were collected from frozen samples. In addition, a total of 122 Korean men who had been diagnosed as free of prostate cancer by the Eulji University hospital in Seoul and Daejeon, Korea were recruited as normal controls. These subjects were selected at random (and therefore likely to be unrelated) from the same geographical area as the cases. This study was approved by the Ethics Committee and institutional review boards of Eulji Medical Center of the Eulji University School of Medicine in Seoul, and separate written informed consent was obtained for screening and for enrollment from all participants.
    7/261 = 2.7% D-5178A(xD4-3010A, D5-10397A)
    18/261 = 6.9% D4a-14979C
    20/261 = 7.7% D4b-8020A
    36/261 = 13.8% D4-3010A(xD4a-14979C, D4b-8020A)
    14/261 = 5.4% D5 (-10394DdeI/-10397AluI)
    11/261 = 4.2% G-4833G(xG2a-7600A)
    5/261 = 1.9% G2a-7600A
    8/261 = 3.1% M7-6455T(xM7a-4386C, M7b1a1-12811C)
    2/261 = 0.8% M7a-4386C
    5/261 = 1.9% M7b1a1-12811C
    2/261 = 0.8% C-13263G
    4/261 = 1.5% M8-15487T(xC-13263G, M8a-8684T)
    22/261 = 8.4% M8a-8684T
    6/261 = 2.3% M*
    2/261 = 0.8% N*
    13/261 = 5.0% N9-5417A(xY-14178C)
    1/261 = 0.4% Y-14178C
    20/261 = 7.7% A-1736G
    32/261 = 12.3% B-9bpd(xB5-10398G)
    15/261 = 5.7% B5-10398G
    6/261 = 2.3% R9-3970T(xF1-12410G)
    12/261 = 4.6% F1-12410G (-12406HpaI/HincII)

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