Genetic studies on Gujarati people

The study of the genetics and archaeogenetics of the Gujarati people of India aims at uncovering these people's genetic history. Gujarati people chiefly live in Gujarat state of India. They are an Indo-Aryan ethnolinguistic group that traditionally speaks Gujarati, an Indo-Iranian language. They had spread in other major cities of India like Mumbai and neighbouring states for business, trade and employment. They are one of the largest diaspora community of India spread across the world.[1]

They have some genetic commonalities as well as differences with other ethnic groups of India.

Autosomal DNA components

The International HapMap Project (HapMap) had collected 98 samples of Gujarati people living in Houston, Texas, United States. The data of these samples was processed by Zack Ajmal of the Harappa Ancestry Project (Harappa) in 2011. The project analyses dataset with the admixture model-based clustering package. Admixture takes specific number of populations, i.e. K, and assigns quantity to individuals.[2] These populations have their own proportions to recognise patterns of relationships across individuals.[3]

The Harappa Ancestry Project found that the autosomal DNA among the samples is mostly originated in South Asia with small amount of autosomal DNA originated from Europe, West Asia and South East Asia. Very small amount of DNA among the samples is originated from Southeast Asia and Austronesia. Some samples have larger component originated in West Asia and Europe. There was two clusters found in studies; one close-cluster and one scattered later tagged Gujarati-A and Gujarati-B respectively.[4]

The origin of the autosomal DNA components and their statistics:[4]

K=8 Population Range Mean Median
C1 South Asian 64-89% 81.9% 85.8%
C2 West Asian 0-13% 2.3% 1.6%
C3 European 2-22% 7.6% 5.0%
C4 Southeast Asian 0-9% 4.9% 5.0%
C5 Austronesian 1-6% 2.8% 2.9%
C6 Northeast Asian 0-3% 0.4% 0.0%
C7 West African 0-1% 0.0% 0.0%
C8 East African 0-0% 0.0% 0.0%

The Harappa Ancestry Project further expanded its dataset and analysed against K=16.[2] These are not 'real' populations but defines in which region these components are modal. Here S Indian means that the component peaks in south India; Balochthe in Baloch people of southeast Iran and southwest Pakistan; NE Euro in east Balts; Caucasian in Caucasus; SE Asian, Siberian and NE Asian are other component of Asians. The analysis is as follows:[2]

Ethnicity Dataset Number of samples C1 C2 C3 C4 C5 C6 C7 C8 C9 C10 C11 C12 C13 C14 C15 C16
K=16 S Indian Baloch Caucasian NE Euro SE Asian Siberian NE Asian Papuan American Beringian Mediterranean SW Asian San E African Pygmy W African
Gujarati Harappa 4 46% 37% 4% 5% 0% 0% 1% 1% 1% 1% 1% 1% 0% 0% 0% 0%
Gujarati-A 1000 Genomes 5 53% 41% 1% 1% 0% 0% 0% 0% 0% 0% 1% 1% 0% 0% 0% 0%
Gujarati-A HapMap 63 54% 42% 0% 1% 0% 0% 0% 0% 0% 0% 1% 0% 0% 0% 0% 0%
Gujarati-B HapMap 34 44% 39% 5% 7% 0% 0% 0% 0% 1% 0% 1% 1% 0% 0% 0% 0%
Gujarati-Muslim Harappa 3 33% 36% 13% 5% 1% 0% 1% 1% 1% 1% 2% 4% 0% 1% 0% 0%
Gujarati-Patel Harappa 2 55% 41% 0% 0% 0% 0% 1% 1% 0% 0% 2% 0% 0% 0% 0% 0%

mtDNA

Haplogroup R

Sub-haplogroup U

Over 33% of all genetic markers of the population of Gujarat originates from West Eurasia. The mitochondrial DNA (mtDNA) sub-haplogroup U7 is common in Gujarat. It found in over 12% of the population, higher than in Punjab (9%), Pakistan, Iran, Afghanistan, or anywhere else. U7 is only found in frequencies between 0% and 0.9% in other populations of India. So it is concluded that U7 first originated in Gujarat rather than West Asia or Central Asia. The study by Quintana-Murci et al. (2004) of 34 Gujaratis found the presence of U2a and U7 sub-haplogroups (8.8%) followed by U2b (5.9%) and U2c (2.9%).[5][6][7]

Other sub-haplogroups of R

The study by Quintana-Murci et al. (2004) of Gujaratis found the presence of R* (8.8%), H (5.9%), J1(2.9%).[6][7]

Other minor haplogroups of N

The study by Quintana-Murci et al. (2004) found presence of haplogroup W (8.8%) in Gujaratis as well as other northwestern states like Punjab and Kashmir. Haplogroup W is descended from the haplogroup N2. They also found N* (2.9%) in Gujaratis.[6][8][7]

The mtDNA haplogroup HV is found in at least one Patel Gujarati family which is also found in some Tamil Brahmins.[8]

Y chromosome

The Y chromosome DNA (Y-DNA) of some Gujarati males has haplogroup R1a, specifically R-L657 (the L657 subclade). Other has R-Y874 (the Y874 subclade of R1a1a1) which also found in Telugu people. Other common finding is haplogroup J2b2 (J-M241). The SNP mutation referred to as Y951 is also found in Gujarati people as well as Punjabis. The haplogroup C-M356 (C1b, previously called C5a, within which C-P92 is a subclade defined by the P92 mutation) is also found among some Gujarati people.[8][9]

A set of 48 bi-allelic markers on the non-recombining region of Y chromosome (NRY) were analysed in 284 males; representing nine Indo-European speaking tribal populations of South Gujarat. The genetic structure of the populations revealed that none of these groups was overtly admixed or completely isolated. However, elevated haplogroup diversity and FST value point towards greater diversity and differentiation which suggests the possibility of early demographic expansion of the study groups. The phylogenetic analysis revealed 13 paternal lineages, of which six haplogroups: C5, H1a*, H2, J2, R1a1* and R2 accounted for a major portion of the Y chromosome diversity. The higher frequency of the six haplogroups and the pattern of clustering in the populations indicated overlapping of haplogroups with West and Central Asian populations. Other analyses undertaken on the population affiliations revealed that the Indo-European speaking populations along with the Dravidian speaking groups of southern India have an influence on the tribal groups of Gujarat. The vital role of geography in determining the distribution of Y lineages was also noticed. This implies that although language plays a vital role in determining the distribution of Y lineages, the present day linguistic affiliation of any population in India for reconstructing the demographic history of the country should be considered with caution.[10]

Genetics and archaeogenetics of Gujarati groups

Genetics

Inverted Y chromosome polymorphism in Gujarati Muslims of South Africa

The pericentric inversion of the Y-chromosome (inv(Y)) is a rare chromosomal heteromorphism which is hereditary. It has no clinical significance or reproductive disadvantage.[11] It is studied in Gujarati Muslims of South Africa, 8 inv(Y) men opposed to 9 normal men. The p49a/TaqI and p49a/PvuII haplotypes were determined and found that 8 inv(Y) possessed identical TaqI and PvuII where as 7 different TaqI and 8 different PvuII haplotypes observed in the 9 normal men. So It is concluded that inv(Y) has common genetic origin in Gujarati Muslims of South Africa. The origin is traced to Kholvad, a small village near Surat, and some neighbouring villages. It is probably originated through random genetic drift in reproductively isolated community, maintained by strict endogamy based on religious and linguistic affiliations.[12][13]

Vitiligo in Gujaratis

Vitiligo is a long term skin condition characterized by patches of the skin losing their pigment. It affects 1—2% of the population of world while 0.5—2.5% population of India. But Gujarat and Rajasthan has the highest prevalence (~8.8%).[14] Rasheedunnisa Begum et al. conducted genetic studies of over 1500 patients from Gujarat and found an SNP variation in the autosomal DNA of Gujaratis which make them more prone to Vitiligo.[15][16]

Deletion β° thalassaemia

A study suggested the Indian deletion β° type (600 bp deletion involving the 3’ end) thalassaemia has single origin as all 23 patients of it in study were from either Sindh or Gujarat who had identical haplotypes.[17]

Archeogenetics

Impact of cultural marriage practices on genetic variation

In India, caste is a form of social stratification characterized by endogamy. Within caste, there are endogamous groups known as gol (marriage circle) by Gujarati people. In it, there are small number of exogamous lineages known as gotra. A person can not marry within gotra as well as outside gol. Gujarati Patels practice this "exogamic endogamy" which is also found elsewhere in India. One such gol known as Chha Gaam Patels (CGP) include people from six villages of Charotar region of Gujarat. A study found their genetic similarities as well as confirms their patrilocal and patrilineal practices within the group. It also confirms low-level of female gene inflow within the group. The study illustrates impact of culture marriage practice on genetic variation in Indian population.[18]

Parsis

The Parsis has sharp contrast between genetic data obtained from mitochondrial DNA (mtDNA), a maternal component, and Y-chromosome DNA (Y-DNA), a paternal component. According to Y-DNA, they resemble Iranian population which supports historical origin from Iran. But about 60% of their maternal gene pool originates from South Asian haplogroups, which is just 7% in Iranians. Parsis has high frequency of haplogroup M of mtDNA (55%), similar to Indians, which is just 1.7% in combined Iranian sample. Due to high diversity in Y-DNA and mtDNA lineages, the strong drift effect is unlikely even though they had small population. The studies suggest a male-mediated migration of Parsi ancestors from Iran to Gujarat where they admixed with local female population which ultimately resulting in loss of Iranian mtDNA.[7]

Dawoodi Bohras

Dawoodi Bohras of Gujarat shows 47% genetic contribution from West Asia, especially Iran; followed by 30% from Arabia and from 23% closest Hindu parental populations. This shows considerable genetic flow from West Asia in them.[19]

Gujarati tribal

Four tribal populations (Chaudhari, Vasava, Kotwalia and Gamit) of the Surat district in Gujarat were studied for the distribution of 22 polymorphic systems of the blood. The studies suggested that they are considerably hetero-genetic and have small genetic difference among them which is due to genetic variation. It also showed that Vasava and Kotwalia are closely related genetically, and Chaudhari and Gamit are different from them.[20]

See also

References

  1. ↑ PeopleGroups.org. "Gujarati". PeopleGroups.org. Retrieved 10 March 2017.
  2. 1 2 3 "What the Harappa Ancestry Project has resolved - Gene Expression". Gene Expression. 2013-08-04. Retrieved 2017-03-10.
  3. ↑ "What the Harappa Ancestry Project has resolved - Gene Expression". Gene Expression. 2013-08-04. Retrieved 2017-03-17.
  4. 1 2 Zack (7 February 2011). "HapMap Gujaratis". Harappa Ancestry Project. Retrieved 10 March 2017.
  5. ↑ Metspalu, Mait; Kivisild, Toomas; Metspalu, Ene; Parik, Jüri; Hudjashov, Georgi; Kaldma, Katrin; Serk, Piia; Karmin, Monika; Behar, Doron M. (2004-01-01). "Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans". BMC Genetics. 5: 26. ISSN 1471-2156. PMC 516768 Freely accessible. PMID 15339343. doi:10.1186/1471-2156-5-26.
  6. 1 2 3 Maji, Suvendu; Krithika, S.; Vasulu, T. S. (2008). "Distribution of mitochondrial DNA macrohaplogroup N in India with special reference to haplogroup R and its sub-haplogroup U." (PDF). International Journal of Human Genetics. Biological Anthropology Unit, Indian Statistical Institute, Kolkata. 8 (1-2): 85–96.
  7. 1 2 3 4 Quintana-Murci, Lluís; Chaix, Raphaëlle; Wells, R. Spencer; Behar, Doron M.; Sayar, Hamid; Scozzari, Rosaria; Rengo, Chiara; Al-Zahery, Nadia; Semino, Ornella (2004). "Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor". The American Journal of Human Genetics. 74 (5): 827–845. PMC 1181978 Freely accessible. PMID 15077202. doi:10.1086/383236.
  8. 1 2 3 Gress, Priti Chitnis (31 August 2004). "Gujarati Genetics - DNA of Gujaratis of India". Khazaria.com. Retrieved 10 March 2017.
  9. ↑ Rootsi, Siiri; Behar, Doron M.; Järve, Mari; Lin, Alice A.; Myres, Natalie M.; Passarelli, Ben; Poznik, G. David; Tzur, Shay; Sahakyan, Hovhannes (2013-12-17). "Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites". Nature Communications. 4. ISSN 2041-1723. PMC 3905698 Freely accessible. PMID 24346185. doi:10.1038/ncomms3928.
  10. ↑ Khurana, Priyanka; Aggarwal, Aastha; Mitra, Siuli; Italia, Yazdi M.; Saraswathy, Kallur N.; Chandrasekar, Adimoolam; Kshatriya, Gautam K. (2014-03-10). "Y Chromosome Haplogroup Distribution in Indo-European Speaking Tribes of Gujarat, Western India". PLOS ONE. 9 (3): e90414. ISSN 1932-6203. PMC 3948632 Freely accessible. PMID 24614885. doi:10.1371/journal.pone.0090414.
  11. ↑ Verma, Ram S.; Rodriguez, Jorge; Dosik, Harvey (1982-05-01). "The clinical significance of pericentric inversion of the human Y chromosome: a rare "third" type of heteromorphism". Journal of Heredity. 73 (3): 236–238. ISSN 0022-1503. doi:10.1093/oxfordjournals.jhered.a109627.
  12. ↑ Spurdle, Amanda; Jenkins, Trefor. "The Inverted Y-Chromosome Polymorphism in the Gujarati Muslim Indian Population of South Africa Has a Single Origin". Human Heredity. 42 (5): 330–332. doi:10.1159/000154093.
  13. ↑ Bernstein, R.; Wadee, A.; Rosendorff, J.; Wessels, A.; Jenkins, T. (1986). "Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa". Human Genetics. Springer Nature. 74 (3). doi:10.1007/bf00282538. Retrieved 10 March 2017.
  14. ↑ Laddha, Naresh C.; Dwivedi, Mitesh; Shajil, E.M.; Prajapati, Hiral; Marfatia, Y.S.; Begum, Rasheedunnisa (2008). "Association of PTPN22 1858C/T polymorphism with vitiligo susceptibility in Gujarat population". Journal of Dermatological Science. Elsevier BV. 49 (3): 260–262. doi:10.1016/j.jdermsci.2007.10.002. Retrieved 10 March 2017.
  15. ↑ "DNA variation that makes Gujaratis susceptible to vitiligo identified". The Times of India. 5 December 2014. Retrieved 10 March 2017.
  16. ↑ EM, Shajil; Laddha, Naresh C.; Chatterjee, Sreejatha; Gani, Amina R.; Malek, Reem A.; Shah, Bela J.; Begum, Rasheedunnisa (2007). "Association of catalase T/C exon 9 and glutathione peroxidase codon 200 polymorphisms in relation to their activities and oxidative stress with vitiligo susceptibility in Gujarat population". Pigment Cell Research. Wiley-Blackwell. 20 (5): 405–407. doi:10.1111/j.1600-0749.2007.00406.x. Retrieved 10 March 2017.
  17. ↑ Thein, S. L.; Old, J. M.; Wainscoat, J. S.; Petrou, M.; Modell, B.; Weatherall, D. J. (1984-06-01). "Population and genetic studies suggest a single origin for the Indian deletion β° thalassaemia". British Journal of Haematology. 57 (2): 271–278. ISSN 1365-2141. doi:10.1111/j.1365-2141.1984.tb02896.x.
  18. ↑ Pemberton, Trevor J.; Li, Fang-Yuan; Hanson, Erin K.; Mehta, Niyati U.; Choi, Sunju; Ballantyne, Jack; Belmont, John W.; Rosenberg, Noah A.; Tyler-Smith, Chris; Patel, Pragna I. (2012). "Impact of restricted marital practices on genetic variation in an endogamous Gujarati group". American Journal of Physical Anthropology. Wiley-Blackwell. 149 (1): 92–103. doi:10.1002/ajpa.22101. Retrieved 10 March 2017.
  19. ↑ Eaaswarkhanth, Muthukrishnan; Dubey, Bhawna; Meganathan, Poorlin Ramakodi; Ravesh, Zeinab; Khan, Faizan Ahmed; Singh, Lalji; Thangaraj, Kumarasamy; Haque, Ikramul (2009). "Diverse genetic origin of Indian Muslims: evidence from autosomal STR loci". Journal of Human Genetics. Springer Nature. 54 (6): 340–348. doi:10.1038/jhg.2009.38. Retrieved 10 March 2017.
  20. ↑ Bhasin, M.K.; Singh, Indera P.; Sudhakar, K.; Bhardwaj, Veena; Chahal, S.M.S.; Walter, H.; Dannewitz, Angela (1985). "Genetic studies in four tribal populations of the Surat District, Gujarat (India)". Annals of Human Biology. Informa UK Limited. 12 (1): 27–39. doi:10.1080/03014468500007541. Retrieved 17 March 2017.
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