Page 3 of 3 FirstFirst 123
Results 21 to 29 of 29

Thread: Genetically isolated populations & Endogamy

  1. #21
    Registered Users
    Posts
    657
    Sex
    Location
    US
    Ethnicity
    India Andhra Kamma Telugu
    Nationality
    US
    Y-DNA
    HM82 Z5888+CTS8144+
    mtDNA
    U2a1a

    United States of America India
    Some PCA clustering in the study "Population Stratification and Underrepresentation of Indian Subcontinent Genetic Diversity in the 1000 Genomes Project Dataset " at https://academic.oup.com/gbe/article/8/11/3460/2680038 clearly shows the endogamy levels captured by the PCA when used with ethnic groups

    From Moorjani study there were 5 standard telugu populations & when added to cluster of ITU (Indian Telugu in UK) it shows up in 2 (almost 3) groups, first one corresponding to Velama & Naidu, the second one far off from other 2 with Vysya, third with Mala & Madiga. As per study it might show Telugu Vysya have significant endogamy for long time. There might be other castes not part of ITU with such Endogamy levels.



    Among GIH population there is clearly two groups 1 that clusters with Gujarati Brahmin (BRG) population and other that clusters with ITU (indian Telugu in UK) & STU (Singapore Tamils) & PJL (punjabi lahore pakistan). This shows Gujarati Brahmin have strict endogamy levels compared to other Gujarati population in the GIH study group.

    nMonte3 current
    Velamas Gujarati_D Muslim_UP Tharus Punjabi_1000genomes
    1.859005 3.210341 4.491247 4.998440 6.040323

    G25 Ancients Dist 0.99 Shahr_I_Sokhta_BA3:S8728.E1.L1 65.2 Saidu_Sharif_IA_o:S7722.E1.L1 17.8 Udegram_IA:I1985 7.8 Jordanian:S_Jordanian-1 4.4 Barikot_IA:I6545 2.2 Scotland_N:I26602 Narva_Lithuania: Donkalnis6

    mtDNA mutation 309.1C 315.1C 522.1A 522.2C G8572A G8860A T11368C T16093a T16154C C16519T
    C195T

  2. The Following User Says Thank You to tipirneni For This Useful Post:

     bmoney (12-07-2018)

  3. #22
    Gold Member Class
    Posts
    2,425
    Sex
    Location
    Canada
    Ethnicity
    Punjabi Sikh Ramgarhia
    Nationality
    Canadian
    Y-DNA
    R1a-Y2568*
    mtDNA
    M3a2

    India Punjab Canada Azad Baluchistan Sikh Empire Nishan Sahib
    Finally a study that divided PJL into at least two groups.
    Deg Teg Fateh - Victory to Charity and Arms

    Punjab, Punjabi, Fateh.

  4. The Following User Says Thank You to MonkeyDLuffy For This Useful Post:

     tipirneni (12-08-2018)

  5. #23
    Registered Users
    Posts
    341
    Sex
    Ethnicity
    Telugu
    Y-DNA
    L1a1
    mtDNA
    J1

    India United States of America
    Dammit Reddy ancestors

  6. #24
    Registered Users
    Posts
    2,122
    Location
    Gonur Tepe

    Afghanistan Jammu and Kashmir United States of America Canada
    Quote Originally Posted by MonkeyDLuffy View Post
    Finally a study that divided PJL into at least two groups.
    Yeah only problem its from 2 years ago but looks like it could have been published in 2009 or 2010. Though even with that in mind its far more accurate based of the information they had compared to that one Chaubey and his crew came out with.

  7. The Following 3 Users Say Thank You to pegasus For This Useful Post:

     bmoney (12-08-2018),  MonkeyDLuffy (12-08-2018),  tipirneni (12-08-2018)

  8. #25
    Registered Users
    Posts
    657
    Sex
    Location
    US
    Ethnicity
    India Andhra Kamma Telugu
    Nationality
    US
    Y-DNA
    HM82 Z5888+CTS8144+
    mtDNA
    U2a1a

    United States of America India
    Quote Originally Posted by pegasus View Post
    Yeah only problem its from 2 years ago but looks like it could have been published in 2009 or 2010. Though even with that in mind its far more accurate based of the information they had compared to that one Chaubey and his crew came out with.
    There are groupings of GIH into A,B,C,D etc,,, but no one talked caste & endogamy in papers as this one did. There may be more scientific ways such as TMCA & generations etc.. which might come in newer papers
    nMonte3 current
    Velamas Gujarati_D Muslim_UP Tharus Punjabi_1000genomes
    1.859005 3.210341 4.491247 4.998440 6.040323

    G25 Ancients Dist 0.99 Shahr_I_Sokhta_BA3:S8728.E1.L1 65.2 Saidu_Sharif_IA_o:S7722.E1.L1 17.8 Udegram_IA:I1985 7.8 Jordanian:S_Jordanian-1 4.4 Barikot_IA:I6545 2.2 Scotland_N:I26602 Narva_Lithuania: Donkalnis6

    mtDNA mutation 309.1C 315.1C 522.1A 522.2C G8572A G8860A T11368C T16093a T16154C C16519T
    C195T

  9. #26
    Registered Users
    Posts
    657
    Sex
    Location
    US
    Ethnicity
    India Andhra Kamma Telugu
    Nationality
    US
    Y-DNA
    HM82 Z5888+CTS8144+
    mtDNA
    U2a1a

    United States of America India
    Quote Originally Posted by kush View Post
    Dammit Reddy ancestors
    I bet if the Reddy caste can be subdivided into sub castes of Reddys are Ayodhi Reddys (in Tamil Nadu), Motati Reddys, Neravati reddy, Pedakanti Reddy, Chowdary Reddy(saudary Reddy), Gudati Reddy, Reddy Gandla, Pakanati Reddys, Velanati Reddys, Namadarlu, Vadde Reddys, Panta Reddys,Gandla reddy, Ganjam Reddy (in Tamil Nadu, Kerala and Orissa), Pokanati Reddys, Nanugonda Reddys, Gone Kapu, Palle Reddy and Konda Reddy. Hyderabad and Rangareddy are dominated by Gudati, Gone Kapu and Reddy kapu sub castes. Adilabad and Karimnagar have Reddy Gandla, gudati and Motati in majority. Then you will see the effect of Endogamy showing up clearly. Many richer Reddies have mobility & village headmen power that the ones on the move & poorer ones don't have which might show up in clusters
    nMonte3 current
    Velamas Gujarati_D Muslim_UP Tharus Punjabi_1000genomes
    1.859005 3.210341 4.491247 4.998440 6.040323

    G25 Ancients Dist 0.99 Shahr_I_Sokhta_BA3:S8728.E1.L1 65.2 Saidu_Sharif_IA_o:S7722.E1.L1 17.8 Udegram_IA:I1985 7.8 Jordanian:S_Jordanian-1 4.4 Barikot_IA:I6545 2.2 Scotland_N:I26602 Narva_Lithuania: Donkalnis6

    mtDNA mutation 309.1C 315.1C 522.1A 522.2C G8572A G8860A T11368C T16093a T16154C C16519T
    C195T

  10. The Following User Says Thank You to tipirneni For This Useful Post:

     kush (12-08-2018)

  11. #27
    Registered Users
    Posts
    657
    Sex
    Location
    US
    Ethnicity
    India Andhra Kamma Telugu
    Nationality
    US
    Y-DNA
    HM82 Z5888+CTS8144+
    mtDNA
    U2a1a

    United States of America India
    http://www.bloodjournal.org/content/130/Suppl_1/930

    Chuvash Polycythemia Patients from Afghanistan and Southern India Share a Common VHL Gene Haplotype. Support for Its Origin before Asians and Europeans Diverged
    Christine Min, Jihyun Song, Joachim R. Goethert, Soo Jin Kim, Victor R. Gordeuk, Josef T. Prchal and Alan Lubin
    Blood 2017 130:930;


    Chuvash polycythemia is a rare autosomal recessive hereditary disease, with affected homozygotes having decreased survival mainly because of increased incidence of stroke and other thrombotic complications. Intriguingly this risk may be augmented, rather than ameliorated, by phlebotomies (Sergueeva et al, Blood, 2015, and Haematologica 2017).

    Chuvash polycythemia is characterized by a C to T missense mutation of the von Hippel Lindau (VHL) gene at nucleotide 589 (VHL C589T, encoding VHLR200W). VHL is a negative regulator of hypoxia-inducible factor (HIF) α subunits. Homozygosity for VHL C589T upregulates hypoxic responses through constitutively augmented HIF signaling even in normoxia, resulting in an increase of erythropoiesis. Heterozygosity leads to only mild augmentation of hypoxia sensing.

    Chuvash polycythemia was first identified in people of the Chuvash region in Russia, where it has estimated heterozygosity frequency of 1.7%, likely due to a founder effect. The incidence of Chuvash polycythemia elsewhere is sporadic, and the condition is found in other ethnic groups, including northern Indians of Indo-European ethnicity and northern Europeans. Another hot spot of gene frequency was found among Italians on the island of Ischia. We previously published that VHL C589Thomozygotes from various parts of the world share a common VHL haplotype, and from the size of the shared haplotype, we could calculate that it originated from the same founder about 30-50,000 years ago (Liu, et al, Blood 2004). The same shared haplotype was also identified in Ischia in VHL C589Thomozygotes (Perrotta et al, Blood 2006).


    the Chuvash haplotype is also present in VHL C589T homozygotes in Afghanistan and Southern India, suggesting that the VHL C589T mutation in these areas arose from the same common founder. The data support the notion that the Chuvash polycythemia VHL mutation originated relatively early in modern human evolution- possibly after humans moved from Africa- as it is present in different ethnic and racial groups (Europeans and Asians). This observation is compatible with the notion that VHL C589T heterozygosity provides some evolutionary advantage (present in various ethnic groups and did not disappear, i.e., absence of negative selection because of increased mortality of homozygotes). It has been shown that heterozygosity for VHL C589T provides some protection from anemia; it is likely that other evolutionary benefits remain to be identified (Miasnikova et al, Haematologica 2011). Yet, such an advantage is very mild (very low gene frequency worldwide of this mutation). These data provide additional evidence that support a VHL C589T origin before Asians and European diverged.


  12. The Following User Says Thank You to tipirneni For This Useful Post:

     poi (01-08-2019)

  13. #28
    Registered Users
    Posts
    228
    Sex
    Location
    Stone Mountain GA
    Nationality
    Gondwanan
    Y-DNA
    my baby daddy's
    mtDNA
    U1a1c1d

    India United States of America
    I have the allele for cardiomyopathy, it's found in 5% of the indian pop. An Indian engineer at 23andme wrote an article about how he inherited it as well. My parents village is in southern Kerala and although christian, its fairly isolated/endogamous.

    Diseases like this exist not only because of endogamy but because they affect people at a later stage in life after reproduction. Both my grandfather and uncle died of sudden heart attacks in their 30s.
    I've always had heart arrythmia and difficulty breathing as a kid due to rough/enlarged heart muscle.

    By Arnab Chowdry, Senior Scientific Software Engineer at 23andMe

    Having been young and healthy for the majority of my life, I haven’t had many opportunities to interact with our health care system. Not too long ago I was a sedentary, slightly-overweight, South Asian man entering my thirties. I had some ambiguous family history of diabetes but, like everyone I know, I felt that the less I saw my doctor, the better. Most importantly, by medical standards, I had no reason to consider myself predisposed to heart disease.


    Then, not long ago, my 23andMe data and a paper in Nature Genetics changed my story. Ironically, I work for 23andMe as a scientist and engineer; I analyze genetic data for a living, but until then my work had been abstract. I knew we were helping people but never expected any particularly life-altering information to come out of my personal genetics.

    It turns out that I carry a mutation in the MYBPC3 gene that is associated with familial hypertrophic cardiomyopathy (HCM). South Asians that carry this mutation are at greatly increased risk for HCM. Well that’s strange–if I’m a carrier, then one of my parents has to be a carrier, and one of their parents (and so on). But if it is such a significant modifier of risk, shouldn’t I have heard of HCM running in my family, before?

    With some research, I learned that HCM is not commonly screened for, in the United States or India, but is a leading cause of sudden cardiac death in athletes. So it’s reasonable that I may not have heard of HCM in my family, because it may never have been diagnosed. But I called my mother anyway and started asking questions: do we have any heart disease in our family?

    I was surprised to learn that the answer was an emphatic: yes. Though we had never discussed it, my mother was similarly surprised that I didn’t know that the majority of deaths in my family were related to heart disease. My grandmother, who I thought had died of diabetes, actually suffered from angina and died of heart failure. My grandfather on my father’s side had early-onset heart attacks and died from a blood clot. Their brothers and sisters? Cardiac arrest. I even had a middle-aged cousin I never met who died the month before due to sudden cardiac death. And all this time, at the doctor’s office, I never checked any box related to heart disease in my family history. This information wasn’t recorded, anywhere, except the notepad I was using.

    Given the surprising prevalence of heart issues on both sides of my family, it was hard to pin down which of my parents was likely to carry my mutation, so I got them both genotyped by 23andMe. From there, it was easy to determine that the mutation came from my father’s side, which had more of the early-onset heart attacks. I explained the research paper and its caveats to him and told him to talk to his doctor, then hung up the phone and realized: “Wait, shouldn’t I talk to my doctor?”

    How do I even bring it up? I’m a member of an HMO (Kaiser), and I like my primary care physician. He’s always taken me seriously and referred me to the appropriate specialists, but he’s not a geneticist and I’m sure he’s never heard of this mutation, this gene, or this paper. I was afraid he would laugh at me if I tried to explain that I bought a test online and found a mutation that suggests I should be screened for HCM. But that’s what I did, in a nutshell, and to my surprise, he called up cardiology right away.

    The cardiologist had never heard of this mutation, either, and went so far as to claim that there aren’t any such dominant mutations in MYBPC3. All right, the paper came out in 2009 and, living in North America, I didn’t expect a South Asian variant to be well-known, but I didn’t expect the cardiologist to speak so authoritatively on something he was clearly wrong about. My physician, to his credit, referred me to the genetics department and sent me home.
    Last edited by Mandoos; 01-08-2019 at 06:11 PM.

  14. The Following 2 Users Say Thank You to Mandoos For This Useful Post:

     poi (01-08-2019),  tipirneni (01-08-2019)

  15. #29
    Registered Users
    Posts
    499
    Sex
    Location
    US/ India
    Ethnicity
    Punjabi Khatri/J&K/Multan
    Nationality
    India
    Y-DNA
    J2b2
    mtDNA
    U2b

    India United States of America India Punjab Jammu and Kashmir
    Quote Originally Posted by Mandoos View Post
    I have the allele for cardiomyopathy, it's found in 5% of the indian pop. An Indian engineer at 23andme wrote an article about how he inherited it as well. My parents village is in southern Kerala and although christian, its fairly isolated/endogamous.

    Diseases like this exist not only because of endogamy but because they affect people at a later stage in life after reproduction. Both my grandfather and uncle died of sudden heart attacks in their 30s.
    I've always had heart arrythmia and difficulty breathing as a kid due to rough/enlarged heart muscle.
    You should consider the Apple watch.
    https://www.self.com/story/cardiolog...oring-features

  16. The Following 4 Users Say Thank You to agent_lime For This Useful Post:

     FrostAssassin0701 (01-10-2019),  Kart (01-10-2019),  poi (01-09-2019),  tipirneni (01-10-2019)

Page 3 of 3 FirstFirst 123

Similar Threads

  1. Replies: 2
    Last Post: 12-12-2017, 12:46 PM
  2. Replies: 1
    Last Post: 04-14-2016, 09:04 PM
  3. U6a - isolated or just really rare
    By SwedeLover in forum U
    Replies: 1
    Last Post: 10-03-2015, 01:12 PM
  4. Replies: 0
    Last Post: 03-14-2015, 06:44 AM
  5. Huguenot endogamy?
    By AJL in forum Autosomal (auDNA)
    Replies: 9
    Last Post: 05-24-2013, 01:21 AM

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •