Genetic Studies On Sinhalese
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Genetic studies on the Sinhalese is part of
population genetics Population genetics is a subfield of genetics that deals with genetic differences within and between populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as adaptation, speciation, and pop ...
investigating the origins of the
Sinhalese Sinhala may refer to: * Something of or related to the Sinhalese people of Sri Lanka * Sinhalese people * Sinhala language, one of the three official languages used in Sri Lanka * Sinhala script, a writing system for the Sinhala language ** Sinha ...
population. All studies agree that there is a significant relationship between the Sinhalese and the Bengalis and South Indian Tamils, and that there is a significant genetic relationship between Sri Lankan Tamils and Sinhalese. This is also supported by a genetic distance study, which showed low differences in genetic distance between the Sinhalese and the
Bengali Bengali or Bengalee, or Bengalese may refer to: *something of, from, or related to Bengal, a large region in South Asia * Bengalis, an ethnic and linguistic group of the region * Bengali language, the language they speak ** Bengali alphabet, the w ...
,
Tamil Tamil may refer to: * Tamils, an ethnic group native to India and some other parts of Asia ** Sri Lankan Tamils, Tamil people native to Sri Lanka also called ilankai tamils **Tamil Malaysians, Tamil people native to Malaysia * Tamil language, nati ...
, and Keralite volunteers.


Relationship to Bengalis

An Alu polymorphism analysis by Mastana S (2007) using Sinhalese, Tamil, Bengali,
Gujarati Gujarati may refer to: * something of, from, or related to Gujarat, a state of India * Gujarati people, the major ethnic group of Gujarat * Gujarati language, the Indo-Aryan language spoken by them * Gujarati languages, the Western Indo-Aryan sub- ...
(
Patel The Patel is an Indian surname or title, predominantly found in the state of Gujarat representing the community of land-owning farmers and later (with the British East India Company) businessmen, agriculturalists and merchants. Traditionally th ...
), and Punjabi as parental populations found the following proportions of genetic contribution: Analysis of X chromosome STRs by Perera et al. (2021) found the Sinhalese (as well as
Sri Lankan Tamils Sri Lankan Tamils ( or ), also known as Ceylon Tamils or Eelam Tamils, are Tamils native to the South Asian island state of Sri Lanka. Today, they constitute a majority in the Northern Province, live in significant numbers in the Eastern Pro ...
and
Sri Lankan Muslims Islam is the third largest religion in Sri Lanka with about 9.7 percent of the total population. The main Muslim concentrations occur in Eastern Province. In other areas, such as in the cities of the western, north western and central Sri Lan ...
) to be more closely related to Bengalis, than to the
Indian Tamils of Sri Lanka Indian Tamils of Sri Lanka are Tamil people of Indian origin in Sri Lanka. They are also known as Malayaga Tamilar, Hill Country Tamils, Up-Country Tamils or simply Indian Tamils. They are partly descended from workers sent from South India to Sr ...
.Perera, N., Galhena, G. and Ranawaka, G., 2021. X-chromosomal STR based genetic polymorphisms and demographic history of Sri Lankan ethnicities and their relationship with global populations. Scientific reports, 11(1), pp.1-12. Genetic distance analysis by Kirk (1976) found the Sinhalese to be closer to the Bengal than they are to populations in Gujarat or the Panjab. D1S80 allele frequency (a popular allele for genetic fingerprinting) is also similar between the Sinhalese and Bengalis, suggesting the two groups are closely related. The Sinhalese also have similar frequencies of the allele MTHFR 677T (13%) to West Bengalis (17%). The most common y-DNA Haplogroups among the Sinhalese include
Haplogroup R2 Haplogroup R2, or R-M479, is a Y-chromosome haplogroup characterized by genetic marker M479. It is one of two primary descendants of Haplogroup R (R-M207), the other being R1 (R-M173). R-M479 has been concentrated geographically in South Asia a ...
(38.5%) and
Haplogroup R1a Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to southern Siberia and South Asia. While R1a originated c. 22,000 to 2 ...
(12.8%).
Haplogroup R2 Haplogroup R2, or R-M479, is a Y-chromosome haplogroup characterized by genetic marker M479. It is one of two primary descendants of Haplogroup R (R-M207), the other being R1 (R-M173). R-M479 has been concentrated geographically in South Asia a ...
also has a significant presence among West Bengalis (22.6%), whereas
Haplogroup R1a Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to southern Siberia and South Asia. While R1a originated c. 22,000 to 2 ...
peaks in the higher caste groups of
North India North India is a loosely defined region consisting of the northern part of India. The dominant geographical features of North India are the Indo-Gangetic Plain and the Himalayas, which demarcate the region from the Tibetan Plateau and Central ...
. The total
Haplogroup R2 Haplogroup R2, or R-M479, is a Y-chromosome haplogroup characterized by genetic marker M479. It is one of two primary descendants of Haplogroup R (R-M207), the other being R1 (R-M173). R-M479 has been concentrated geographically in South Asia a ...
and
Haplogroup R1a Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to southern Siberia and South Asia. While R1a originated c. 22,000 to 2 ...
presence among Sinhalese is over 50%.


Relationship to Indian Tamils

A genetic admixture study by Kshatriya (1995) found the Sinhalese to have a higher contribution from Indian Tamils (69.86% +/- 0.61), compared with the Bengalis (25.41% +/- 0.51). Genetic distance analysis by Roychoudhury AK et al. (1985) suggested the Sinhalese are more closely related to South and West Indian populations, than the Bengalis. Genetic distance analysis by Kirk (1976) suggested the Sinhalese are closer to the Tamils and Keralites of South India, than they are to the populations in Gujarat or the Panjab. A 2023 study by Singh et al using higher resolution markers than previous studies found that there was higher gene flow from South India to the Sinhalese than from North India, with the Sinhalese sharing the highest
Identity by descent A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common an ...
with the
Piramalai Kallar Piramalai Kallars is a sub caste of the Kallars and thus are part of the Mukkulathor community that also includes the Maravar and Agamudayar castes.They belong to Most backward class/Denotified class in Tamil nadu. History Copper plate inscr ...
of
Tamil Nadu Tamil Nadu (; , TN) is a States and union territories of India, state in southern India. It is the List of states and union territories of India by area, tenth largest Indian state by area and the List of states and union territories of India ...
compared to the other Indian populations studied. The study also found heightened sharing with the
Maratha The Marathi people (Marathi: मराठी लोक) or Marathis are an Indo-Aryan ethnolinguistic group who are indigenous to Maharashtra in western India. They natively speak Marathi, an Indo-Aryan language. Maharashtra was formed as a M ...
of north western India which was lacking in Tamil and other South Indian populations, consistent with a trace of North Indian affiliation to the Sinhalese population.


Relationship to North West Indians

An Alu polymorphism analysis by Mastana S (2007) found a minor North West Indian contribution (20-23%). Analysis of X chromosome STRs by Perera et al., (2011) showed that the Sinhalese, Sri Lankan Tamil, Moor and Indian Tamils of Sri Lanka, share affinities with the
Bhil Bhil or Bheel is an ethnic group in western India. They speak the Bhil languages, a subgroup of the Western Zone of the Indo-Aryan languages. As of 2013, Bhils were the largest tribal group in India. Bhils are listed as tribal people of the s ...
(an Indigenous group) of North West India.


Relationship to other major ethnic groups in Sri Lanka

A study looking at genetic variation of the
FUT2 Galactoside 2-alpha-L-fucosyltransferase 2 is an enzyme that in humans is encoded by the ''FUT2'' gene. It affects the secretor status of ABO antigens. Approximately 20% of Caucasians are non-secretors due to the G428A (rs601338) and C571T (rs49 ...
gene in the Sinhalese and Sri Lankan Tamil population, found similar genetic backgrounds for both ethnic groups, with little genetic flow from other neighbouring Asian population groups. Studies have also found no significant difference with regards to
blood group A blood type (also known as a blood group) is a classification of blood, based on the presence and absence of antibodies and inherited antigenic substances on the surface of red blood cells (RBCs). These antigens may be proteins, carbohydrates ...
, blood genetic markers (Saha, 1988) and
single-nucleotide polymorphism In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently lar ...
between the Sinhalese and other ethnic groups in Sri Lanka. Another study has also found "no significant genetic variation among the major ethnic groups in Sri Lanka". This is further supported by a study which found very similar frequencies of alleles MTHFR 677T, F2 20210A & F5 1691A in Indian Tamil, Sinhalese, Sri Lankan Tamil, and Sri Lankan Moor populations.


Relationship to East and Southeast Asians

Genetic studies show that the Sinhalese have received some genetic flow from neighboring populations in
East Asia East Asia is the eastern region of Asia, which is defined in both geographical and ethno-cultural terms. The modern states of East Asia include China, Japan, Mongolia, North Korea, South Korea, and Taiwan. China, North Korea, South Korea and ...
and
Southeast Asia Southeast Asia, also spelled South East Asia and South-East Asia, and also known as Southeastern Asia, South-eastern Asia or SEA, is the geographical United Nations geoscheme for Asia#South-eastern Asia, south-eastern region of Asia, consistin ...
, such as from the ethnically diverse and disparate Tibeto-Burman peoples and Austro-Asiatic peoples, which is due to their close genetic links to Northeast India. A 1985 study conducted by Roychoudhury AK and Nei M, indicated the values of genetic distance showed that the Sinhalese people were slightly closer to
Mongoloid Mongoloid () is an obsolete racial grouping of various peoples indigenous to large parts of Asia, the Americas, and some regions in Europe and Oceania. The term is derived from a now-disproven theory of biological race. In the past, other terms ...
populations due to gene exchange in the past. In regards to comparisons of root and canal morphology of Sri Lankan mandibular molars, it showed that they were further away from Mongoloid populations. Among haplogroups found in
East Asian East Asia is the eastern region of Asia, which is defined in both geographical and ethno-cultural terms. The modern states of East Asia include China, Japan, Mongolia, North Korea, South Korea, and Taiwan. China, North Korea, South Korea a ...
populations, a lower frequency of East Asian
mtDNA haplogroup In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolu ...
, G has been found among the populations of Sri Lanka alongside haplogroup D in conjunction with the main mtDNA haplogroup of Sri Lanka's ethnic groups, haplogroup M. In regards to
Y-DNA The Y chromosome is one of two sex chromosomes (allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or abse ...
,
Haplogroup C-M130 Haplogroup C is a major Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, P184, P255, and P260, which are all SNP mutations. It is one of two primary branches of Haplogroup CF alongside Haplogroup F. Haplogroup C is found in ancient po ...
is found at low to moderate frequencies in Sri Lanka. Genetic markers of
immunoglobulin An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the ...
among the Sinhalese show high frequencies of afb1b3 which has its origins in the
Yunnan Yunnan , () is a landlocked Provinces of China, province in Southwest China, the southwest of the People's Republic of China. The province spans approximately and has a population of 48.3 million (as of 2018). The capital of the province is ...
and
Guangxi Guangxi (; ; Chinese postal romanization, alternately romanized as Kwanghsi; ; za, Gvangjsih, italics=yes), officially the Guangxi Zhuang Autonomous Region (GZAR), is an Autonomous regions of China, autonomous region of the People's Republic ...
provinces of southern China. It is also found at high frequencies among Odias, certain Nepali and Northeast Indian, southern Han Chinese, Southeast Asian and certain Austronesian populations of the
Pacific Islands Collectively called the Pacific Islands, the islands in the Pacific Ocean are further categorized into three major island groups: Melanesia, Micronesia, and Polynesia. Depending on the context, the term ''Pacific Islands'' may refer to one of se ...
. At a lower frequency, ab3st is also found among the Sinhalese and is generally found at higher frequencies among northern Han Chinese, Tibetan, Mongolian, Korean and Japanese populations. The
Transferrin Transferrins are glycoproteins found in vertebrates which bind to and consequently mediate the transport of iron (Fe) through blood plasma. They are produced in the liver and contain binding sites for two Fe3+ ions. Human transferrin is encode ...
TF*Dchi allele which is common among East Asian and Native American populations is also found among the Sinhalese. HumDN1*4 and HumDN1*5 are the predominant
DNase I Deoxyribonuclease I (usually called DNase I), is an endonuclease of the DNase family coded by the human gene DNASE1. DNase I is a nuclease that cleaves DNA preferentially at phosphodiester linkages adjacent to a pyrimidine nucleotide, yielding ...
genes among the Sinhalese and are also the predominant genes among southern Chinese ethnic groups and the
Tamang people The Tamang (; Devanagari: तामाङ; ''tāmāṅ'') are an Tibeto-Burmese ethnic group of Nepal. In Nepal Tamang/Moormi people constitute 5.6% of the Nepalese population at over 1.3 million in 2001, increasing to 1,539,830 as of the 2011 c ...
of Nepal. A 1988 study conducted by N. Saha, showed the high GC*1F and low GC*1S frequencies among the Sinhalese are comparable to those of the Chinese, Japanese, Koreans, Thais, Malays, Vietnamese, Laotians and Tibetans. A 1998 study conducted by D.E. Hawkey showed dental morphology of the Sinhalese is closely related to those of the Austro-Asiatic populations of East and Northeast India.
Hemoglobin E Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northea ...
a variant of normal hemoglobin, which originated in and is prevalent among populations in
Southeast Asia Southeast Asia, also spelled South East Asia and South-East Asia, and also known as Southeastern Asia, South-eastern Asia or SEA, is the geographical United Nations geoscheme for Asia#South-eastern Asia, south-eastern region of Asia, consistin ...
, is also common among the Sinhalese and can reach up to 40% in Sri Lanka.


Paternal Line


Y-DNA of Sinhalese

The most common Y-chromosome DNA haplogroups found in the Sinhalese are
Haplogroup R2 Haplogroup R2, or R-M479, is a Y-chromosome haplogroup characterized by genetic marker M479. It is one of two primary descendants of Haplogroup R (R-M207), the other being R1 (R-M173). R-M479 has been concentrated geographically in South Asia a ...
,
Haplogroup R1a Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to southern Siberia and South Asia. While R1a originated c. 22,000 to 2 ...
and Haplogroup L.
Haplogroup R2 Haplogroup R2, or R-M479, is a Y-chromosome haplogroup characterized by genetic marker M479. It is one of two primary descendants of Haplogroup R (R-M207), the other being R1 (R-M173). R-M479 has been concentrated geographically in South Asia a ...
has a significant presence among West Bengalis (22.6%), whereas
Haplogroup R1a Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to southern Siberia and South Asia. While R1a originated c. 22,000 to 2 ...
peaks in the higher caste groups of
North India North India is a loosely defined region consisting of the northern part of India. The dominant geographical features of North India are the Indo-Gangetic Plain and the Himalayas, which demarcate the region from the Tibetan Plateau and Central ...
. Haplogroup L peaks at 68% among the Koraga people of coastal
Karnataka Karnataka (; ISO: , , also known as Karunāḍu) is a state in the southwestern region of India. It was formed on 1 November 1956, with the passage of the States Reorganisation Act. Originally known as Mysore State , it was renamed ''Karnat ...
and north
Kerala Kerala ( ; ) is a state on the Malabar Coast of India. It was formed on 1 November 1956, following the passage of the States Reorganisation Act, by combining Malayalam-speaking regions of the erstwhile regions of Cochin, Malabar, South ...
. It is also the single largest male lineage (36.8%) among the
Jat people The Jat people ((), ()) are a traditionally agricultural community in Northern India and Pakistan. Originally pastoralists in the lower Indus river-valley of Sindh, Jats migrated north into the Punjab region in late medieval times, and subse ...
of Northern India and is found at 16.33% among the Gujar's of Jammu and Kashmir.


Maternal Line


MtDNA of Sinhalese

Ranweera et al. (2014) found the most common mtDNA haplogroup in the Sinhalese to be Haplogroup M,
Haplogroup U Haplogroup U is a human mitochondrial DNA haplogroup (mtDNA). The clade arose from haplogroup R, likely during the early Upper Paleolithic. Its various subclades (labelled U1–U9, diverging over the course of the Upper Paleolithic) are found ...
(U7a) and
Haplogroup R Haplogroup R may refer to: * Haplogroup R (mtDNA), a human mitochondrial DNA (mtDNA) haplogroup * Haplogroup R (Y-DNA) Haplogroup R, or R-M207, is a Y-chromosome DNA haplogroup. It is both numerous and widespread amongst modern populations. S ...
(R30b) and Haplogroup G (G3a1′2). Haplogroup M represents the dispersal of modern humans around 60.000 years ago along the southern Asian coastline following a southern coastal route across Arabia and India to reach Australia short after. Haplogroup U7 is considered a West Eurasian–specific mtDNA haplogroup, believed to have originated in the
Black Sea The Black Sea is a marginal mediterranean sea of the Atlantic Ocean lying between Europe and Asia, east of the Balkans, south of the East European Plain, west of the Caucasus, and north of Anatolia. It is bounded by Bulgaria, Georgia, Roma ...
area approximately 30,000 years ago. In South Asia, U7 occurs in about 12% in Gujarat, while for the whole of India its frequency stays around 2%, and 5% in
Pakistan Pakistan ( ur, ), officially the Islamic Republic of Pakistan ( ur, , label=none), is a country in South Asia. It is the world's List of countries and dependencies by population, fifth-most populous country, with a population of almost 24 ...
. In the
Vedda people The Vedda ( si, වැද්දා , ta, வேடர் (''Vēḍar'')), or Wanniyalaeto, are a minority indigenous group of people in Sri Lanka who, among other sub-communities such as Coast Veddas, Anuradhapura Veddas and Bintenne Veddas, ...
of Sri Lanka it reaches its highest frequency of 13.33% (subclade U7a). It is speculated that large-scale immigration carried these mitochondrial haplogroups into India. Chaubey states that "considerable number of maternal lineages of Sri Lanka is shared with India, more precisely with southern part of India."Chaubey, G. Language isolates and their genetic identity: a commentary on mitochondrial DNA history of Sri Lankan ethnic people: their relations within the island and with the Indian subcontinental populations. J Hum Genet 59, 61–63 (2014). https://doi.org/10.1038/jhg.2013.122


References

{{human genetics
Sinhalese Sinhala may refer to: * Something of or related to the Sinhalese people of Sri Lanka * Sinhalese people * Sinhala language, one of the three official languages used in Sri Lanka * Sinhala script, a writing system for the Sinhala language ** Sinha ...
Sinhalese Sinhala may refer to: * Something of or related to the Sinhalese people of Sri Lanka * Sinhalese people * Sinhala language, one of the three official languages used in Sri Lanka * Sinhala script, a writing system for the Sinhala language ** Sinha ...
Sinhalese Sinhala may refer to: * Something of or related to the Sinhalese people of Sri Lanka * Sinhalese people * Sinhala language, one of the three official languages used in Sri Lanka * Sinhala script, a writing system for the Sinhala language ** Sinha ...
Indo-Aryan peoples Sinhalese people